##fileformat=VCFv4.1 ##fileDate=2022-01-09 ##source=ClinVar ##reference=GRCh38 ##ID= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO 1 11109622 1296984 G T . . ALLELEID=1286774;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11109622G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001627|intron_variant;ORIGIN=1 1 11114338 417723 A G . . ALLELEID=404624;CLNDISDB=Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774;CLNDN=Focal_cortical_dysplasia_type_II|Brain_malformation|CEBALID_syndrome;CLNHGVS=NC_000001.11:g.11114338A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601231.0003;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1085307113 1 11122037 858694 C T . . ALLELEID=822515;CLNDISDB=MONDO:MONDO:0100283,MedGen:CN300503|MedGen:CN517202;CLNDN=Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes|not_provided;CLNHGVS=NC_000001.11:g.11122037C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1642555959 1 11124516 156703 G A . . ALLELEID=166563;CLNDISDB=Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MeSH:C538614,MedGen:C1336078|MedGen:C0153574|MedGen:CN517202;CLNDN=Renal_cell_carcinoma,_papillary,_1|Malignant_melanoma_of_skin|Focal_cortical_dysplasia_type_II|Neoplasm_of_uterine_cervix|Neoplasm_of_the_large_intestine|Brain_malformation|Glioblastoma|Papillary_renal_cell_carcinoma,_sporadic|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000001.11:g.11124516G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601231.0008;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=3;RS=587777894 1 11124516 376129 G T . . ALLELEID=363008;CLNDISDB=Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MeSH:C538614,MedGen:C1336078|MedGen:C0153574|MedGen:C1378703;CLNDN=Renal_cell_carcinoma,_papillary,_1|Malignant_melanoma_of_skin|Focal_cortical_dysplasia_type_II|Neoplasm_of_uterine_cervix|Neoplasm_of_the_large_intestine|Brain_malformation|Glioblastoma|Papillary_renal_cell_carcinoma,_sporadic|Malignant_neoplasm_of_body_of_uterus|Kidney_Carcinoma;CLNHGVS=NC_000001.11:g.11124516G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601231.0005;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=3;RS=587777894 1 11126708 1296985 T G . . ALLELEID=1286775;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11126708T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1 1 11128059 833713 T C . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=821812;CLNDISDB=MONDO:MONDO:0100283,MedGen:CN300503|MedGen:CN517202;CLNDN=Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes|not_provided;CLNHGVS=NC_000001.11:g.11128059T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373390383 1 11128107 1296989 G C . . ALLELEID=1286779;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11128107G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1 1 11128107 156702 G T . . ALLELEID=166562;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN517202;CLNDN=Brain_malformation|not_provided;CLNHGVS=NC_000001.11:g.11128107G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587777893 1 11130641 695823 G A . . AF_ESP=0.00054;AF_EXAC=0.00044;AF_TGP=0.00020;ALLELEID=683245;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN517202;CLNDN=Brain_malformation|not_provided;CLNHGVS=NC_000001.11:g.11130641G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142403193 1 11130710 664963 C A . . ALLELEID=626597;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN517202;CLNDN=Brain_malformation|not_provided;CLNHGVS=NC_000001.11:g.11130710C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751393552 1 11139429 1296997 C A . . ALLELEID=1286787;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11139429C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1 1 11157153 1296993 A G . . ALLELEID=1286783;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11157153A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1 1 11157173 376453 C T . . ALLELEID=363332;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774;CLNDN=Breast_neoplasm|Renal_cell_carcinoma,_papillary,_1|Brain_malformation|Glioblastoma|CEBALID_syndrome;CLNHGVS=NC_000001.11:g.11157173C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=3;RS=786205165 1 11157174 374796 A G . . ALLELEID=361700;CLNDISDB=Human_Phenotype_Ontology:HP:0007206,MONDO:MONDO:0020492,MedGen:C0431391,Orphanet:ORPHA99802|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009;CLNDN=Hemimegalencephaly|Breast_neoplasm|Renal_cell_carcinoma,_papillary,_1|Brain_malformation|Glioblastoma;CLNHGVS=NC_000001.11:g.11157174A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1057519914 1 11157239 659938 A G . . AF_EXAC=0.00001;ALLELEID=626609;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN517202;CLNDN=Brain_malformation|not_provided;CLNHGVS=NC_000001.11:g.11157239A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761536364 1 11157242 376130 A G . . ALLELEID=363009;CLNDISDB=Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:ORPHA268994|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:C1378703;CLNDN=Focal_cortical_dysplasia_type_II|Brain_malformation|Kidney_Carcinoma;CLNHGVS=NC_000001.11:g.11157242A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601231.0006;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1057519779 1 11157246 1296994 C A . . ALLELEID=1286784;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11157246C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=1 1 11210822 645465 T C . . AF_EXAC=0.00007;ALLELEID=626617;CLNDISDB=Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN517202;CLNDN=Intellectual_disability|Brain_malformation|not_provided;CLNHGVS=NC_000001.11:g.11210822T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001583|missense_variant;ORIGIN=129;RS=760415071 1 11216114 1276811 C T . . ALLELEID=1266681;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN517202;CLNDN=Brain_malformation|not_provided;CLNHGVS=NC_000001.11:g.11216114C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001627|intron_variant;ORIGIN=1 1 11228694 1296995 G A . . ALLELEID=1286785;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11228694G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001587|nonsense;ORIGIN=1 1 11243277 1296996 T C . . ALLELEID=1286786;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11243277T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1 1 11247938 1296991 G A . . ALLELEID=1286781;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11247938G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1 1 11253991 1296986 G T . . ALLELEID=1286776;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.11253991G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MTOR:2475;MC=SO:0001627|intron_variant;ORIGIN=1 1 11796321 3520 G A . . AF_ESP=0.27057;AF_EXAC=0.30367;AF_TGP=0.24541;ALLELEID=18559;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356,SNOMED_CT:126824007|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MONDO:MONDO:0009353,MedGen:C1856058,OMIM:236250,Orphanet:ORPHA395|MONDO:MONDO:0011120,MedGen:C1866558,OMIM:601634|MedGen:C1856059|MedGen:C4017062|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=methotrexate_response_-_Metabolism/PK|methotrexate_response_-_Toxicity|Neoplasm_of_stomach|Gastrointestinal_stromal_tumor|Thrombophilia_due_to_thrombin_defect|Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency|Neural_tube_defects,_folate-sensitive|MTHFR_deficiency,_thermolabile_type|Homocystinuria_due_to_MTHFR_deficiency|not_specified|none_provided|not_provided;CLNHGVS=NC_000001.11:g.11796321G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607093.0003|PharmGKB:827848365PA450428|PharmGKB:981220481PA448803|PharmGKB_Clinical_Annotation:981204929|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:74380|PharmGKB:981204929|UniProtKB_(protein):P42898#VAR_009528|HGMD:CM950819|PharmGKB:827848365|PharmGKB:981220481|PharmGKB:981204929PA449165|PharmGKB_Clinical_Annotation:981220481;GENEINFO=MTHFR:4524;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1801133 1 40819358 227469 C G . . ALLELEID=228470;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374;CLNDN=Nonsyndromic_hearing_loss_and_deafness|not_specified;CLNHGVS=NC_000001.11:g.40819358C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=KCNQ4:9132;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752131356 1 40819438 208366 TCTC T . . ALLELEID=204595;CLNDISDB=MONDO:MONDO:0010817,MedGen:C2677637,OMIM:600101|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Autosomal_dominant_nonsyndromic_hearing_loss_2A|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000001.11:g.40819441CCT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=KCNQ4:9132;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=797044966 1 40819463 505302 G C . . ALLELEID=496205;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374;CLNDN=Nonsyndromic_hearing_loss_and_deafness|not_specified;CLNHGVS=NC_000001.11:g.40819463G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=KCNQ4:9132;MC=SO:0001583|missense_variant;ORIGIN=1;RS=956666801 1 40819893 6241 G A . . ALLELEID=21280;CLNDISDB=MONDO:MONDO:0010817,MedGen:C2677637,OMIM:600101|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Autosomal_dominant_nonsyndromic_hearing_loss_2A|Nonsyndromic_hearing_loss_and_deafness|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.40819893G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P56696#VAR_001547|OMIM_Allelic_Variant:603537.0001;GENEINFO=KCNQ4:9132;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28937588 1 97079071 635267 C A . . ALLELEID=623098;CLNDISDB=.;CLNDN=fluorouracil_response_-_Other;CLNHGVS=NC_000001.11:g.97079071C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1447989723PA128406956;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1801268 1 97082391 88974 T A . . AF_ESP=0.00392;AF_EXAC=0.00263;AF_TGP=0.00220;ALLELEID=94529;CLNDISDB=.|.|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MeSH:D030342,MedGen:C0950123|MedGen:CN077983|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|tegafur_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|Inborn_genetic_diseases|Fluorouracil_response|not_provided;CLNHGVS=NC_000001.11:g.97082391T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:981203618|PharmGKB:981203618PA128406956|PharmGKB:981203618PA452620|PharmGKB:981203618PA164713220|PharmGKB:981203618|Illumina_Laboratory_Services,Illumina:47417|PharmGKB:981203618PA448771;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=67376798 1 97234991 287480 G T . . AF_ESP=0.00008;AF_EXAC=0.00019;AF_TGP=0.00020;ALLELEID=271717;CLNDISDB=.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN517202;CLNDN=fluorouracil_response_-_Other|Dihydropyrimidine_dehydrogenase_deficiency|not_provided;CLNHGVS=NC_000001.11:g.97234991G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:147532;GENEINFO=DPYD:1806|DPYD-AS1:100873932;MC=SO:0001583|missense_variant;ORIGIN=17;RS=56005131 1 97305364 100080 C T . . AF_ESP=0.04137;AF_EXAC=0.04647;AF_TGP=0.04393;ALLELEID=105957;CLNDISDB=.|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN169374|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_specified|not_provided;CLNHGVS=NC_000001.11:g.97305364C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q12882#VAR_014760|Illumina_Laboratory_Services,Illumina:72907;GENEINFO=DPYD:1806|DPYD-AS1:100873932;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1801160 1 97450058 432 C T . . AF_ESP=0.00415;AF_TGP=0.00300;ALLELEID=15471;CLNDISDB=.|.|.|.|Human_Phenotype_Ontology:HP:0000158,Human_Phenotype_Ontology:HP:0000203,MONDO:MONDO:0015496,MedGen:C0024421,Orphanet:ORPHA156207|Human_Phenotype_Ontology:HP:0000170,Human_Phenotype_Ontology:HP:0000179,MedGen:C1839739|Human_Phenotype_Ontology:HP:0000251,Human_Phenotype_Ontology:HP:0000279,Human_Phenotype_Ontology:HP:0000303,Human_Phenotype_Ontology:HP:0000328,Human_Phenotype_Ontology:HP:0002051,Human_Phenotype_Ontology:HP:0004648,Human_Phenotype_Ontology:HP:0004656,Human_Phenotype_Ontology:HP:0008514,MONDO:MONDO:0008312,MeSH:D008313,MedGen:C0399526,OMIM:176700,Orphanet:ORPHA2964|Human_Phenotype_Ontology:HP:0000254,Human_Phenotype_Ontology:HP:0000333,Human_Phenotype_Ontology:HP:0001358,Human_Phenotype_Ontology:HP:0001359,Human_Phenotype_Ontology:HP:0002007,MedGen:C0221354|Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847|Human_Phenotype_Ontology:HP:0000414,Human_Phenotype_Ontology:HP:0000443,MedGen:C0240543|Human_Phenotype_Ontology:HP:0000687,MedGen:C1844813|Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MedGen:C0004352,OMIM:209850,SNOMED_CT:408856003,SNOMED_CT:43614003|Human_Phenotype_Ontology:HP:0000718,MedGen:C0001807,SNOMED_CT:61372001|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0001767,Human_Phenotype_Ontology:HP:0001781,Human_Phenotype_Ontology:HP:0001831,Human_Phenotype_Ontology:HP:0001855,Human_Phenotype_Ontology:HP:0004701,Human_Phenotype_Ontology:HP:0005889,Human_Phenotype_Ontology:HP:0008099,MedGen:C1836195|Human_Phenotype_Ontology:HP:0001822,Human_Phenotype_Ontology:HP:0004682,MedGen:C0018536|Human_Phenotype_Ontology:HP:0001846,Human_Phenotype_Ontology:HP:0001856,Human_Phenotype_Ontology:HP:0003773,Human_Phenotype_Ontology:HP:0004683,Human_Phenotype_Ontology:HP:0004685,Human_Phenotype_Ontology:HP:0004691,Human_Phenotype_Ontology:HP:0004697,Human_Phenotype_Ontology:HP:0004703,Human_Phenotype_Ontology:HP:0008086,Human_Phenotype_Ontology:HP:0008123,MedGen:C4551570|Human_Phenotype_Ontology:HP:0001864,MedGen:C4025741|Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656|Human_Phenotype_Ontology:HP:0002187,MedGen:C3161330|Human_Phenotype_Ontology:HP:0006919,MedGen:C4024963|Human_Phenotype_Ontology:HP:0008588,MedGen:C1846459|Human_Phenotype_Ontology:HP:0011910,MedGen:C4023133|Human_Phenotype_Ontology:HP:0012736,MedGen:C3553450|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN077983|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|tegafur_response_-_Toxicity|Macroglossia|Thick_lower_lip_vermilion|Mandibular_prognathia|Frontal_bossing|Coarse_facial_features|Bulbous_nose|Widely_spaced_teeth|Autistic_disorder|Aggressive_behavior|Intellectual_disability|Global_developmental_delay|Seizures|Short_toe|Hallux_valgus|2-3_toe_syndactyly|Clinodactyly_of_the_5th_toe|Cognitive_impairment|Intellectual_disability,_profound|Abnormal_aggressive,_impulsive_or_violent_behavior|Slit-like_opening_of_the_exterior_auditory_meatus|Shortening_of_all_phalanges_of_fingers|Profound_global_developmental_delay|Hirschsprung_disease_1|Dihydropyrimidine_dehydrogenase_deficiency|Fluorouracil_response|not_provided;CLNHGVS=NC_000001.11:g.97450058C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:827843617PA448771|PharmGKB:827843617PA128406956|PharmGKB:827843617|Illumina_Laboratory_Services,Illumina:271081|PharmGKB:827843617PA452620|PharmGKB_haplotype:PA165949082|OMIM_Allelic_Variant:612779.0001|PharmGKB_Clinical_Annotation:827843617|PharmGKB:827843617PA164713220;GENEINFO=DPYD:1806;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=3918290 1 97450065 635266 TG T . . ALLELEID=623099;CLNDISDB=.;CLNDN=fluorouracil_response_-_Other;CLNHGVS=NC_000001.11:g.97450067del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=PharmGKB:1447989671PA128406956;GENEINFO=DPYD:1806;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=72549303 1 97450068 100088 A G . . AF_ESP=0.03675;AF_EXAC=0.04685;AF_TGP=0.05212;ALLELEID=105965;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN169374|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_specified|not_provided;CLNHGVS=NC_000001.11:g.97450068A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1830;GENEINFO=DPYD:1806;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17376848 1 97450190 282919 G A . . AF_EXAC=0.00014;AF_TGP=0.00020;ALLELEID=267156;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN517202;CLNDN=fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_provided;CLNHGVS=NC_000001.11:g.97450190G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1385672;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=59086055 1 97515787 88975 A C . . AF_ESP=0.00038;AF_EXAC=0.00035;AF_TGP=0.00020;ALLELEID=94530;CLNDISDB=.|.|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|tegafur_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_provided;CLNHGVS=NC_000001.11:g.97515787A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_haplotype:PA165949095|PharmGKB:1183630664PA164713220|PharmGKB:1183630664|PharmGKB:1183630664PA128406956|PharmGKB:1183630664PA452620|PharmGKB_Clinical_Annotation:1183630664|PharmGKB:1183630664PA448771;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55886062 1 97515839 100092 T C . . AF_ESP=0.18361;AF_EXAC=0.19296;AF_TGP=0.18490;ALLELEID=105969;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN169374|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_specified|not_provided;CLNHGVS=NC_000001.11:g.97515839T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:47352|UniProtKB_(protein):Q12882#VAR_005176;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1801159 1 97515865 100094 C T . . AF_ESP=0.01492;AF_EXAC=0.01416;AF_TGP=0.00958;ALLELEID=105971;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN169374|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_specified|not_provided;CLNHGVS=NC_000001.11:g.97515865C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q12882#VAR_005175|Illumina_Laboratory_Services,Illumina:73112;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1801158 1 97515923 1327419 C T . . ALLELEID=1317931;CLNDISDB=.;CLNDN=fluorouracil_response_-_Other;CLNHGVS=NC_000001.11:g.97515923C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1 1 97573863 100100 C T . . AF_ESP=0.01569;AF_EXAC=0.01535;AF_TGP=0.00958;ALLELEID=105977;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN169374|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_specified|not_provided;CLNHGVS=NC_000001.11:g.97573863C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1851;GENEINFO=DPYD:1806;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=56038477 1 97573943 1032887 C A . . ALLELEID=1019440;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675;CLNDN=fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency;CLNHGVS=NC_000001.11:g.97573943C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=DPYD:1806;MC=SO:0001587|nonsense;ORIGIN=1;RS=78060119 1 97579893 635263 G C . . AF_TGP=0.00958;ALLELEID=623100;CLNDISDB=.|.|.;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity;CLNHGVS=NC_000001.11:g.97579893G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1184986174PA448771|PharmGKB:1184986174PA128406956;GENEINFO=DPYD:1806;MC=SO:0001627|intron_variant;ORIGIN=1;RS=75017182 1 97593343 1327416 C A . . ALLELEID=1317929;CLNDISDB=.;CLNDN=fluorouracil_response_-_Other;CLNHGVS=NC_000001.11:g.97593343C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1 1 97691776 298300 G A . . AF_ESP=0.00008;AF_EXAC=0.00010;ALLELEID=282038;CLNDISDB=.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675;CLNDN=fluorouracil_response_-_Other|Dihydropyrimidine_dehydrogenase_deficiency;CLNHGVS=NC_000001.11:g.97691776G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1447989706PA128406956|UniProtKB_(protein):Q12882#VAR_005174|Illumina_Laboratory_Services,Illumina:625334;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1801266 1 97699474 100113 T C . . AF_ESP=0.00753;AF_EXAC=0.00234;AF_TGP=0.00639;ALLELEID=105990;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN517202;CLNDN=fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_provided;CLNHGVS=NC_000001.11:g.97699474T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:581471|PharmGKB:1183703784PA128406956;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=115232898 1 97699535 100116 T C . . AF_ESP=0.07935;AF_EXAC=0.08637;AF_TGP=0.05651;ALLELEID=105993;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN169374|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_specified|not_provided;CLNHGVS=NC_000001.11:g.97699535T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:981201535|Illumina_Laboratory_Services,Illumina:1848|PharmGKB_Clinical_Annotation:981201535|UniProtKB_(protein):Q12882#VAR_054034;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2297595 1 97883329 435 A G . . ALLELEID=15474;CLNDISDB=.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:ORPHA1675|MedGen:CN517202;CLNDN=capecitabine_response_-_Toxicity|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_provided;CLNHGVS=NC_000001.11:g.97883329A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612779.0004|UniProtKB_(protein):Q12882#VAR_005173;GENEINFO=DPYD:1806;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1801265 1 201060815 17626 C T . . ALLELEID=32665;CLNDISDB=.|.|.|.|.|.|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887|MedGen:CN517202;CLNDN=enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_5|not_provided;CLNHGVS=NC_000001.11:g.201060815C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q13698#VAR_001500|OMIM_Allelic_Variant:114208.0004;GENEINFO=CACNA1S:779;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1800559 1 201091993 575733 G A . . AF_EXAC=0.00003;ALLELEID=557106;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_5|Hypokalemic_periodic_paralysis_1|not_provided;CLNHGVS=NC_000001.11:g.201091993G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449563861PA449461|PharmGKB:1449563861PA450106|PharmGKB:1449563861PA450434|Illumina_Laboratory_Services,Illumina:449409|PharmGKB:1449563861PA164749136|PharmGKB:1449563861PA451341|PharmGKB:1449563861PA449845|PharmGKB:1449563861PA451522;GENEINFO=CACNA1S:779;MC=SO:0001583|missense_variant;ORIGIN=1;RS=772226819 1 215625828 48468 T C . . AF_ESP=0.00254;AF_EXAC=0.01345;AF_TGP=0.02456;ALLELEID=57630;CLNDISDB=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Usher_syndrome,_type_2A|Usher_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000001.11:g.215625828T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:124169|UniProtKB_(protein):O75445#VAR_072067;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=58257972 1 215628839 282144 G C . . AF_ESP=0.00085;AF_TGP=0.00080;ALLELEID=266381;CLNDISDB=MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215628839G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146892520 1 215628900 48464 C T . . AF_ESP=0.00408;AF_EXAC=0.00315;AF_TGP=0.00220;ALLELEID=57626;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome,_type_2A|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215628900C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75445#VAR_072066|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:90056;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033269 1 215634456 48459 T C . . AF_ESP=0.00300;AF_EXAC=0.00094;AF_TGP=0.00379;ALLELEID=57621;CLNDISDB=MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Usher_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000001.11:g.215634456T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:801848;GENEINFO=USH2A:7399;MC=SO:0001627|intron_variant;ORIGIN=1;RS=57754754 1 215648691 198366 C T . . AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=195527;CLNDISDB=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215648691C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=534656527 1 215650659 177913 C T . . AF_ESP=0.00115;AF_EXAC=0.00032;AF_TGP=0.00140;ALLELEID=172375;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215650659C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112459877 1 215650716 429215 G T . . AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=421203;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215650716G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=539192853 1 215674515 48417 G A . . AF_ESP=0.00031;AF_EXAC=0.00027;ALLELEID=57579;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215674515G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138398671 1 215674694 556334 A G . . AF_EXAC=0.00002;ALLELEID=540920;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215674694A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=745693690 1 215675037 48409 T C . . AF_EXAC=0.00002;ALLELEID=57571;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215675037T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517984 1 215675337 281818 G A . . AF_EXAC=0.00002;ALLELEID=266055;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215675337G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=750396156 1 215675406 166435 T C . . AF_ESP=0.00085;AF_EXAC=0.00023;AF_TGP=0.00120;ALLELEID=172743;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215675406T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1840008;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113107803 1 215675619 48395 A T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=57557;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215675619A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111033518 1 215728383 236537 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=237980;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215728383G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368675850 1 215758743 506273 G T . . AF_EXAC=0.00002;ALLELEID=496182;CLNDISDB=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Usher_syndrome,_type_2A|Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.215758743G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001587|nonsense;ORIGIN=1;RS=777465132 1 215798944 226441 A C . . ALLELEID=228240;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome_type_1|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215798944A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057519382 1 215817134 73556 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=84447;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215817134G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267598373 1 215867179 197510 T C . . AF_ESP=0.00008;AF_EXAC=0.00009;ALLELEID=194671;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Retinitis_pigmentosa_39|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215867179T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001627|intron_variant;ORIGIN=1;RS=372347027 1 215877882 48604 T C . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=57766;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.215877882T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001574|splice_acceptor_variant;ORIGIN=5;RS=397518039 1 215879002 48597 C T . . AF_ESP=0.00031;AF_EXAC=0.00054;AF_TGP=0.00060;ALLELEID=57759;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215879002C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033533 1 215888472 179542 C T . . ALLELEID=172902;CLNDISDB=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374;CLNDN=Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified;CLNHGVS=NC_000001.11:g.215888472C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=549796389 1 215900872 48581 G A . . AF_EXAC=0.00090;AF_TGP=0.00080;ALLELEID=57743;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215900872G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41315579 1 215934749 681822 G A . . AF_ESP=0.00008;AF_EXAC=0.00029;AF_TGP=0.00060;ALLELEID=655061;CLNDISDB=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Usher_syndrome,_type_2A|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.215934749G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200243588 1 215993095 166479 C T . . AF_EXAC=0.00058;AF_TGP=0.00120;ALLELEID=172905;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.215993095C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=550772689 1 216000442 224753 G T . . ALLELEID=226519;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome,_type_2A|Usher_syndrome;CLNHGVS=NC_000001.11:g.216000442G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=869312182 1 216046523 166488 G C . . AF_ESP=0.00008;AF_EXAC=0.00016;ALLELEID=172520;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.216046523G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=5;RS=150230450 1 216072887 48544 A G . . ALLELEID=57706;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN239332|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Retinal_dystrophy|Retinitis_pigmentosa_39|Usher_syndrome|USH2A-Related_Disorders|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.216072887A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:739950;GENEINFO=USH2A:7399|USH2A-AS2:102723833;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397518022 1 216073292 48535 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=57697;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.216073292C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75445#VAR_072008;GENEINFO=USH2A:7399|USH2A-AS2:102723833;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375668376 1 216078145 265979 A T . . ALLELEID=260777;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.216078145A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399|USH2A-AS2:102723833;MC=SO:0001583|missense_variant;ORIGIN=5;RS=886039867 1 216084826 166499 T C . . AF_ESP=0.00008;AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=172526;CLNDISDB=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome,_type_2A|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.216084826T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399|USH2A-AS2:102723833;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150982499 1 216084853 179773 C T . . AF_EXAC=0.00006;ALLELEID=172388;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.216084853C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399|USH2A-AS2:102723833;MC=SO:0001583|missense_variant;ORIGIN=5;RS=727505116;CLNDISDBINCL=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009;CLNDNINCL=Retinitis_pigmentosa;CLNSIGINCL=812445:Likely_pathogenic 1 216097127 48521 G A . . AF_ESP=0.00108;AF_EXAC=0.00079;AF_TGP=0.00040;ALLELEID=57683;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000001.11:g.216097127G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:160607|UniProtKB_(protein):O75445#VAR_054582;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=5;RS=111033333;CLNDISDBINCL=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901;CLNDNINCL=Usher_syndrome,_type_2A;CLNSIGINCL=560516:Pathogenic 1 216175368 166504 C CT . . ALLELEID=172390;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.216175371dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4824437;GENEINFO=USH2A:7399;ORIGIN=1;RS=727503731 1 216190279 2353 CAG C . . ALLELEID=17392;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN239332|MedGen:CN517202;CLNDN=Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|USH2A-Related_Disorders|not_provided;CLNHGVS=NC_000001.11:g.216190280AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=OMIM_Allelic_Variant:608400.0003|Illumina_Laboratory_Services,Illumina:776012|Invitae:4824457;GENEINFO=USH2A:7399;MC=SO:0001589|frameshift_variant;ORIGIN=5;RS=111033367 1 216198494 48509 C A . . AF_ESP=0.00008;AF_TGP=0.00080;ALLELEID=57671;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome_type_1|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.216198494C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:214254|Illumina_Laboratory_Services,Illumina:790139|Invitae:2962057;GENEINFO=USH2A:7399|USH2A-AS1:105372918;ORIGIN=5;RS=111033524;CLNDISDBINCL=MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809;CLNDNINCL=Retinitis_pigmentosa_39;CLNSIGINCL=560517:Uncertain_significance 1 216199889 48503 AAT A . . ALLELEID=57665;CLNDISDB=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN239332|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|USH2A-Related_Disorders|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.216199890AT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Illumina_Laboratory_Services,Illumina:624084|Invitae:9565797;GENEINFO=USH2A:7399|USH2A-AS1:105372918;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397518013 1 216200031 133312 C T . . ALLELEID=137049;CLNDISDB=Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:ORPHA1872|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Cone-rod_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.216200031C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399|USH2A-AS1:105372918;MC=SO:0001583|missense_variant;ORIGIN=1;RS=483353055 1 216246872 48487 G T . . AF_ESP=0.00531;AF_EXAC=0.00629;AF_TGP=0.00160;ALLELEID=57649;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:C0271092|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hearing_impairment|Retinitis_pigmentosa|Usher_syndrome,_type_2A|Usher_syndrome|Progressive_cone_dystrophy_(without_rod_involvement)|not_specified|none_provided|not_provided;CLNHGVS=NC_000001.11:g.216246872G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:652750|UniProtKB_(protein):O75445#VAR_025777|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:153389;GENEINFO=USH2A:7399|LOC122152296:122152296;MC=SO:0001583|missense_variant;ORIGIN=5;RS=111033282 1 216247118 2356 C A . . AF_EXAC=0.00078;AF_TGP=0.00020;ALLELEID=17395;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MeSH:D030342,MedGen:C0950123|MedGen:C0339526,SNOMED_CT:232053004|MedGen:CN235283|MedGen:CN239332|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|Inborn_genetic_diseases|Autosomal_recessive_retinitis_pigmentosa|none_provided|USH2A-Related_Disorders|not_provided;CLNHGVS=NC_000001.11:g.216247118C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75445#VAR_025775|Illumina_Laboratory_Services,Illumina:649192|OMIM_Allelic_Variant:608400.0006|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_17299_605|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:989136;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80338902 1 216250989 418533 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=405046;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinal_dystrophy|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.216250989C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137954284 1 216289285 48481 C T . . AF_ESP=0.00123;AF_EXAC=0.00076;AF_TGP=0.00020;ALLELEID=57643;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|Human_Phenotype_Ontology:HP:0000646,MONDO:MONDO:0001020,MedGen:C0002418|Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644|Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301|Human_Phenotype_Ontology:HP:0001321,Human_Phenotype_Ontology:HP:0006806,Human_Phenotype_Ontology:HP:0006910,Human_Phenotype_Ontology:HP:0007038,Human_Phenotype_Ontology:HP:0007053,MONDO:MONDO:0008939,MedGen:C0266470,OMIM:213000,Orphanet:ORPHA1398,SNOMED_CT:16026008|Human_Phenotype_Ontology:HP:0002335,Human_Phenotype_Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:ORPHA475,SNOMED_CT:253175003,SNOMED_CT:716997004|Human_Phenotype_Ontology:HP:0002365,MedGen:C1842688|Human_Phenotype_Ontology:HP:0004455,Human_Phenotype_Ontology:HP:0004457,Human_Phenotype_Ontology:HP:0008520,Human_Phenotype_Ontology:HP:0008521,Human_Phenotype_Ontology:HP:0008527,Human_Phenotype_Ontology:HP:0008540,Human_Phenotype_Ontology:HP:0008543,Human_Phenotype_Ontology:HP:0008545,Human_Phenotype_Ontology:HP:0008546,Human_Phenotype_Ontology:HP:0008556,Human_Phenotype_Ontology:HP:0008558,Human_Phenotype_Ontology:HP:0008561,Human_Phenotype_Ontology:HP:0008571,Human_Phenotype_Ontology:HP:0008603,Human_Phenotype_Ontology:HP:0008612,Human_Phenotype_Ontology:HP:0008620,MedGen:C1865866|Human_Phenotype_Ontology:HP:0100307,MedGen:C4022154|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Amblyopia|Delayed_speech_and_language_development|Motor_delay|Congenital_cerebellar_hypoplasia|Joubert_syndrome|Hypoplasia_of_the_brainstem|Congenital_sensorineural_hearing_impairment|Cerebellar_hemisphere_hypoplasia|Usher_syndrome,_type_2A|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000001.11:g.216289285C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:782596;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146824138 1 216289392 549981 C A . . AF_EXAC=0.00002;ALLELEID=541096;CLNDISDB=MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided;CLNHGVS=NC_000001.11:g.216289392C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=758571672 1 216325412 48347 T G . . AF_ESP=0.00008;AF_EXAC=0.00010;ALLELEID=57509;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Retinitis_pigmentosa|Retinal_dystrophy|Usher_syndrome,_type_2A|Retinitis_pigmentosa_39|Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.216325412T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O75445#VAR_025766;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369522997 1 216325492 2355 C T . . AF_EXAC=0.00008;ALLELEID=17394;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Retinal_dystrophy|Usher_syndrome,_type_2A|Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000001.11:g.216325492C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:608400.0005|UniProtKB_(protein):O75445#VAR_025764;GENEINFO=USH2A:7399;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121912599 1 243552810 1296988 T C . . ALLELEID=1286778;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000001.11:g.243552810T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AKT3:10000;MC=SO:0001583|missense_variant;ORIGIN=1 1 243637668 772362 C T . . AF_EXAC=0.00002;ALLELEID=706415;CLNDISDB=MONDO:MONDO:0100283,MedGen:CN300503|MedGen:CN517202;CLNDN=Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes|not_provided;CLNHGVS=NC_000001.11:g.243637668C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AKT3:10000;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751924257 1 243695714 39816 C T . . ALLELEID=48415;CLNDISDB=MONDO:MONDO:0014407,MedGen:C4014738,OMIM:615937|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_2|Brain_malformation;CLNHGVS=NC_000001.11:g.243695714C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q9Y243#VAR_065830|OMIM_Allelic_Variant:611223.0003;GENEINFO=AKT3:10000;MC=SO:0001583|missense_variant;ORIGIN=3;RS=397514606 2 38985820 177950 G A . . AF_ESP=0.00038;AF_EXAC=0.00023;AF_TGP=0.00020;ALLELEID=173525;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.38985820G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:35465003-8a5c-4ed0-8a54-1f380f7cad30|Illumina_Laboratory_Services,Illumina:63063;GENEINFO=SOS1:6654;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=188849286 2 38986117 45367 G T . . ALLELEID=54534;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.38986117G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:95b1a6fb-b4b5-4f40-b593-6235a54a0739;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371408734 2 38986123 45366 G A . . ALLELEID=54533;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNDN=Rasopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000002.12:g.38986123G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:13b0bac5-f81b-4c52-8860-2a29e5a8c5e5;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517168 2 38986168 448938 C T . . AF_EXAC=0.00008;ALLELEID=442511;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy;CLNHGVS=NC_000002.12:g.38986168C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:6ff7d21d-3c34-4d7d-b6e4-fc68a890a4b0|Illumina_Laboratory_Services,Illumina:1386289;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776814547 2 38986226 40733 G C . . AF_ESP=0.00023;ALLELEID=49203;CLNDISDB=MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.38986226G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9b08e55f-32bb-4cc3-bfff-815c445525b7;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141594736 2 38986274 448939 A C . . AF_EXAC=0.00014;AF_TGP=0.00020;ALLELEID=442512;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.38986274A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b0d402e5-8499-4446-84bb-97ef592e9ba7;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200485215 2 38989263 45362 T C . . AF_ESP=0.00038;AF_EXAC=0.00079;AF_TGP=0.00020;ALLELEID=54529;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.38989263T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:0c2a6fb5-1765-45ef-bae8-c71d38cebdbb|Illumina_Laboratory_Services,Illumina:684380;GENEINFO=SOS1:6654;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201982464 2 38995139 448940 C G . . AF_ESP=0.00015;AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=442513;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.38995139C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ffbc3b95-48ea-412c-a45b-92033d327cb7;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146383828 2 38995147 240197 C T . . AF_TGP=0.00040;ALLELEID=238770;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.38995147C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199856844 2 38995183 477722 A T . . AF_ESP=0.00023;AF_EXAC=0.00010;ALLELEID=451196;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.38995183A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:202295;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376722127 2 38996931 448941 G A . . AF_EXAC=0.00017;AF_TGP=0.00020;ALLELEID=442514;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.38996931G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:8323e22b-23e0-47b4-905a-611c06a49ece;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=558386297 2 38996971 40716 T C . . AF_ESP=0.00223;AF_EXAC=0.00190;AF_TGP=0.00060;ALLELEID=49186;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.38996971T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:226412|UniProtKB_(protein):Q07889#VAR_066056|ClinGen_RASopathy_Variant_Curation_Expert_Panel:8c759015-333c-4286-a49f-d6ca9f266789;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=8192671 2 38997006 40714 A G . . AF_ESP=0.00461;AF_EXAC=0.00248;AF_TGP=0.00719;ALLELEID=49184;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.38997006A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:1ff6e201-6947-4593-9413-423a33954701;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145364368 2 38997015 40713 C T . . AF_ESP=0.00223;AF_EXAC=0.00045;AF_TGP=0.00100;ALLELEID=49183;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.38997015C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2355799|ClinGen_RASopathy_Variant_Curation_Expert_Panel:47edbaff-50ac-42ee-838b-2ac0c4a4054c;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35462677 2 39006443 40708 C T . . AF_ESP=0.00054;AF_EXAC=0.00067;ALLELEID=49178;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.39006443C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:699916|ClinGen_RASopathy_Variant_Curation_Expert_Panel:9b51411c-83ed-490f-93e5-bc8292c26b66;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149092581 2 39006475 290125 C G . . AF_ESP=0.00015;AF_EXAC=0.00003;ALLELEID=274362;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39006475C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:a01f03e9-4192-4c48-86b0-1606208104f6;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=5;RS=369277679 2 39007017 45353 A G . . AF_ESP=0.00277;AF_EXAC=0.00209;AF_TGP=0.00140;ALLELEID=54520;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.39007017A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:780871|Illumina_Laboratory_Services,Illumina:155093|ClinGen_RASopathy_Variant_Curation_Expert_Panel:462195a4-85d8-4f09-bd70-1876d2f7ce13;GENEINFO=SOS1:6654;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183998234 2 39007168 40706 C T . . ALLELEID=49176;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39007168C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q07889#VAR_030441|ClinGen_RASopathy_Variant_Curation_Expert_Panel:f2a2e5e9-f8ba-43a4-9776-40b192ce87cf|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:180870;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397517159 2 39012145 40702 G T . . AF_ESP=0.00085;AF_EXAC=0.00065;AF_TGP=0.00020;ALLELEID=49172;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39012145G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:85745|Illumina_Laboratory_Services,Illumina:620673|ClinGen_RASopathy_Variant_Curation_Expert_Panel:5cdf91d2-4341-4b5c-9657-3a3132543f1a;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142004123 2 39012278 139228 A G . . AF_ESP=0.00146;AF_EXAC=0.00029;AF_TGP=0.00160;ALLELEID=142931;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.39012278A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:e46916ef-098f-4c2a-b597-52e1ae6ba641;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=75877625 2 39013454 45350 A C . . AF_ESP=0.00169;AF_EXAC=0.00149;AF_TGP=0.00419;ALLELEID=54517;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39013454A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:5b21bf7e-ed81-44bc-8bb2-e27420a0d015|Illumina_Laboratory_Services,Illumina:940943;GENEINFO=SOS1:6654;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186640807 2 39013471 40698 C G . . AF_EXAC=0.00031;ALLELEID=49168;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN235283|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Rasopathy|none_provided|not_provided;CLNHGVS=NC_000002.12:g.39013471C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2fa3237d-09e4-4fb5-84b2-9a8bfdc4e2bc;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200794965 2 39013505 40697 C T . . AF_ESP=0.00023;AF_EXAC=0.00536;AF_TGP=0.00419;ALLELEID=49167;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy|Gingival_fibromatosis_1|Joubert_syndrome_3|Noonan_syndrome_4|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.39013505C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:0fc9c039-08e1-4b28-8161-1cb12bd63b04|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:63675|UniProtKB_(protein):Q07889#VAR_066053|Illumina_Laboratory_Services,Illumina:759017;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140811086 2 39013920 448942 C G . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=442515;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000002.12:g.39013920C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:42ea487d-ec44-44f7-a90a-ac98312de0f1;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200712930 2 39013966 40692 G A . . AF_ESP=0.00715;AF_EXAC=0.00793;AF_TGP=0.00319;ALLELEID=49162;CLNDISDB=MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome_4|Arrhythmogenic_right_ventricular_cardiomyopathy|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.39013966G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q07889#VAR_030437|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:73603|Illumina_Laboratory_Services,Illumina:150509|ClinGen_RASopathy_Variant_Curation_Expert_Panel:6a6d042c-678f-4246-a5be-507e028cd2fc|HGMD:CM070277;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56219475 2 39014836 636263 AAA TTC . . ALLELEID=624073;CLNDISDB=MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733;CLNDN=Noonan_syndrome_and_Noonan-related_syndrome;CLNHGVS=NC_000002.12:g.39014836_39014838delinsTTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9b5591dc-771b-40fd-8445-52363c4cd632;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1572823606 2 39014838 636262 A T . . ALLELEID=624074;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_1|Noonan_syndrome_and_Noonan-related_syndrome;CLNHGVS=NC_000002.12:g.39014838A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:e1a27f96-c415-42ee-a544-66d4c7ee7923;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727505093 2 39022656 448943 T C . . AF_EXAC=0.00009;ALLELEID=442516;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.39022656T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:43130945-2556-414b-8804-afafb2608a11;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=757213444 2 39022658 40687 C T . . AF_EXAC=0.00029;AF_TGP=0.00020;ALLELEID=49157;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39022658C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:8284a0ef-b684-4d8c-81b6-a0be0727a5ca;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=553331572 2 39022723 40686 G C . . AF_ESP=0.00015;AF_EXAC=0.00032;ALLELEID=49156;CLNDISDB=MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_1|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39022723G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q07889#VAR_066051|ClinGen_RASopathy_Variant_Curation_Expert_Panel:c7313ee6-151e-4480-8724-8201a7355956;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200786705 2 39022762 561347 C T . . ALLELEID=552522;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39022762C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753909912 2 39022772 40684 C A . . ALLELEID=49154;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39022772C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:191293|UniProtKB_(protein):Q07889#VAR_030436|ClinGen_RASopathy_Variant_Curation_Expert_Panel:b1bb4dae-8f06-4a91-b1c4-ccf1a3d0092f;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607079 2 39022772 12872 C G . . ALLELEID=27911;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_1|Noonan_syndrome_4|Noonan_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39022772C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:7b69757f-5512-4640-93f6-c926e38cf7f9|OMIM_Allelic_Variant:182530.0005|UniProtKB_(protein):Q07889#VAR_030436;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607079 2 39022773 40681 C A . . ALLELEID=49151;CLNDISDB=MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39022773C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b58990d7-5f0e-4d39-bc5c-0202598cfebe;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517154 2 39022773 40682 C G . . ALLELEID=49152;CLNDISDB=Human_Phenotype_Ontology:HP:0001646,MedGen:C3164445|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Abnormal_aortic_valve_morphology|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39022773C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:29f14367-9d8d-4cd9-a97b-74d1d13b0a74|UniProtKB_(protein):Q07889#VAR_066049;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517154 2 39022773 40683 C T . . ALLELEID=49153;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_1|Noonan_syndrome_3|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39022773C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:1065305a-be0c-4399-99c0-352adbd087b7|UniProtKB_(protein):Q07889#VAR_030435;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397517154 2 39022774 372656 T A . . ALLELEID=359443;CLNDISDB=MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MedGen:CN517202;CLNDN=Noonan_syndrome_and_Noonan-related_syndrome|not_provided;CLNHGVS=NC_000002.12:g.39022774T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b80c62b7-b2c8-4d2d-97fd-f9770a74e570;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137852814 2 39022774 12871 T C . . ALLELEID=27910;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39022774T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:16_July_2017|ClinGen_RASopathy_Variant_Curation_Expert_Panel:b5a21ed5-8cbc-465c-8a14-9be1d1d54011|OMIM_Allelic_Variant:182530.0004|UniProtKB_(protein):Q07889#VAR_030434|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:63672|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:SOS1-A1;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=33;RS=137852814 2 39022781 139236 T C . . AF_ESP=0.00023;AF_EXAC=0.00005;ALLELEID=142939;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.39022781T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:145cda70-23c6-4a63-a935-0a89d4d2b4cd|Illumina_Laboratory_Services,Illumina:752842;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139683425 2 39022783 561935 T C . . ALLELEID=552523;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39022783T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1558474335 2 39022786 40678 T G . . ALLELEID=49148;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000002.12:g.39022786T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:940ad8e1-71b4-424b-b085-ae78bed7e9d7|HGMD:CM070280|UniProtKB_(protein):Q07889#VAR_030432;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517149 2 39022938 45348 C T . . AF_ESP=0.00008;AF_EXAC=0.00005;AF_TGP=0.00040;ALLELEID=54515;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39022938C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q07889#VAR_064506|Illumina_Laboratory_Services,Illumina:876645;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371314838 2 39023198 40665 C T . . AF_ESP=0.00023;AF_EXAC=0.00580;AF_TGP=0.00379;ALLELEID=49135;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39023198C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:82300|ClinGen_RASopathy_Variant_Curation_Expert_Panel:dcfb56fe-0b80-4c22-b9fc-d5d834b1bf38|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:43784;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141390073 2 39035207 45343 C G . . AF_ESP=0.00584;AF_EXAC=0.00979;AF_TGP=0.00280;ALLELEID=54510;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39035207C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:254898|ClinGen_RASopathy_Variant_Curation_Expert_Panel:bffcd141-eb92-4fd7-a50d-07a51fe63f32|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:65584;GENEINFO=SOS1:6654;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145155424 2 39035268 40664 G A . . AF_EXAC=0.00012;AF_TGP=0.00040;ALLELEID=49134;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39035268G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:dc725e41-14fe-44e9-9d51-91ac14a1c2d3|Illumina_Laboratory_Services,Illumina:879028;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=190222208 2 39035466 336021 C T . . AF_EXAC=0.00001;ALLELEID=286297;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.39035466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:98d144a7-6bb0-494e-bc96-4a9de9d3930f|Illumina_Laboratory_Services,Illumina:758689;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754374236 2 39051164 830078 A G . . ALLELEID=818439;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39051164A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:166eddf4-01c1-4701-8ae4-097be38ba4c3;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1671004485 2 39051202 40662 A G . . ALLELEID=49132;CLNDISDB=MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Noonan_syndrome_4|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000002.12:g.39051202A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=GenePathDx,_GenePath_diagnostics:GPDx_NS_SOS1_001|ClinGen_RASopathy_Variant_Curation_Expert_Panel:4536a40e-a4fc-474b-b83d-f63fa7e74a4a|UniProtKB_(protein):Q07889#VAR_064504;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137852813 2 39051259 40660 A G . . AF_ESP=0.00046;AF_EXAC=0.00020;AF_TGP=0.00040;ALLELEID=49130;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39051259A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b29f4adc-7b22-4d66-89e7-1538798f3f2a|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:190168|Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:60802;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=9;RS=139290271 2 39054636 197778 T C . . AF_ESP=0.00039;AF_EXAC=0.00007;ALLELEID=194939;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39054636T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:56575|ClinGen_RASopathy_Variant_Curation_Expert_Panel:997bfe08-d211-4276-b0cc-f38b734d1427;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144934321 2 39054691 181547 A G . . AF_EXAC=0.00002;ALLELEID=179038;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39054691A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:272735|ClinGen_RASopathy_Variant_Curation_Expert_Panel:67633f7d-f4db-4fa9-b8be-134fd8b808c2;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730881039 2 39054764 40655 G A . . AF_ESP=0.00346;AF_EXAC=0.00246;AF_TGP=0.00100;ALLELEID=49125;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39054764G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:165120|ClinGen_RASopathy_Variant_Curation_Expert_Panel:b4afa727-6000-4b36-b685-4bcd8c3df504|Illumina_Laboratory_Services,Illumina:157031;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=55980502 2 39054781 45374 T C . . AF_ESP=0.00008;AF_EXAC=0.00034;AF_TGP=0.00060;ALLELEID=54541;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39054781T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:280486|ClinGen_RASopathy_Variant_Curation_Expert_Panel:739972d5-a90d-4c3b-95f9-cf39b58d349c|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:180116;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143962515 2 39054822 45373 A G . . ALLELEID=54540;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MedGen:CN517202;CLNDN=Noonan_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|not_provided;CLNHGVS=NC_000002.12:g.39054822A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:6d026472-974f-4b44-9918-65310c34a46d;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517174 2 39056704 40651 T C . . ALLELEID=49121;CLNDISDB=Human_Phenotype_Ontology:HP:0001319,Human_Phenotype_Ontology:HP:0008976,MedGen:C2267233|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Neonatal_hypotonia|Noonan_syndrome_4|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39056704T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:07b0e3e7-5c67-41c3-a988-3c438dfba738|UniProtKB_(protein):Q07889#VAR_066034|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2192776;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397517172 2 39056862 45364 A C . . AF_EXAC=0.00002;ALLELEID=54531;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.39056862A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:35b65877-4f4e-4afc-b8ac-5e10c6c2f474;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201085754 2 39058696 40649 C T . . ALLELEID=49119;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39058696C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q07889#VAR_030423|ClinGen_RASopathy_Variant_Curation_Expert_Panel:31e0095f-919b-4660-81cd-4f5bf83b5bcb;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517164 2 39058724 448944 C T . . AF_EXAC=0.00007;ALLELEID=442517;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000002.12:g.39058724C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:941717e7-7c04-404f-8bba-f9f7c73a7a6b;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748478952 2 39058738 448945 T C . . AF_ESP=0.00023;AF_EXAC=0.00005;ALLELEID=442518;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39058738T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:906b02c4-507d-4053-a5bb-59b403751a0d|Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:42486;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144757941 2 39058793 448946 T C . . AF_EXAC=0.00014;AF_TGP=0.00080;ALLELEID=442519;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN235283|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|none_provided|not_provided;CLNHGVS=NC_000002.12:g.39058793T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:47bd0e22-7b07-4048-9afc-7fad23a874ad|Illumina_Laboratory_Services,Illumina:1358882;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=560037748 2 39067646 40643 T G . . AF_ESP=0.03975;AF_EXAC=0.01434;AF_TGP=0.04972;ALLELEID=49113;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.39067646T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:102325|ClinGen_RASopathy_Variant_Curation_Expert_Panel:7c7c5faa-dff9-4352-b563-fea9d0af98a6;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=7609455 2 39067700 448947 A G . . AF_EXAC=0.00013;AF_TGP=0.00040;ALLELEID=442520;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000002.12:g.39067700A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:e56ef21d-72b1-4858-b546-98bab809c78d;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201649682 2 39067732 40641 T C . . AF_ESP=0.00015;AF_EXAC=0.00017;ALLELEID=49111;CLNDISDB=MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Gingival_fibromatosis_1|Noonan_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39067732T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b6f58a98-fd4f-42ec-a406-4b49d996c1dd|Illumina_Laboratory_Services,Illumina:819503|UniProtKB_(protein):Q07889#VAR_066031;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150565592 2 39120350 40640 G A . . AF_ESP=0.00115;AF_EXAC=0.00026;AF_TGP=0.00120;ALLELEID=49110;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000002.12:g.39120350G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:64e8b1a2-45eb-49be-932c-fc67eb53aae9;GENEINFO=SOS1:6654;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=139592595 2 39120384 282591 T C . . AF_EXAC=0.00001;ALLELEID=266828;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000002.12:g.39120384T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:995211f5-9d35-4023-be4a-fe5f20bd1206;GENEINFO=SOS1:6654;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=763337946 2 47402759 90490 T G . . AF_TGP=0.14876;ALLELEID=95965;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47402759T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-433T>G;GENEINFO=MSH2:4436;ORIGIN=1;RS=1863332 2 47403074 90485 T C . . AF_TGP=0.10084;ALLELEID=95960;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47403074T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:18030|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-118T>C|Illumina_Laboratory_Services,Illumina:24761;GENEINFO=MSH2:4436;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=2303425 2 47403112 90494 CGT C . . ALLELEID=95969;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403114_47403115del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-78_-77del;GENEINFO=MSH2:4436;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779182 2 47403192 90832 A C . . ALLELEID=96307;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47403192A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1A>C;GENEINFO=MSH2:4436;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607911 2 47403192 90833 A G . . ALLELEID=96308;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47403192A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1A>G_2;GENEINFO=MSH2:4436;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607911 2 47403192 90834 A T . . ALLELEID=96309;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47403192A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1A>T;GENEINFO=MSH2:4436;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607911 2 47403195 41650 G A . . AF_EXAC=0.00039;ALLELEID=50089;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_carcinoma|Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47403195G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:294|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4G>A|UniProtKB_(protein):P43246#VAR_054511|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_765|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2643642|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3115;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750466 2 47403197 91181 G T . . AF_ESP=0.00008;ALLELEID=96656;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47403197G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.6G>T;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=368270856 2 47403198 630046 G T . . ALLELEID=616598;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47403198G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1257347271 2 47403210 90886 GA G . . ALLELEID=96361;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47403211del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.20del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607915 2 47403211 90918 A AG . . ALLELEID=96393;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403212dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.21dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1553348668 2 47403214 90964 C T . . AF_ESP=0.00015;AF_EXAC=0.00360;AF_TGP=0.00519;ALLELEID=96439;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47403214C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.23C>T|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH2-A1|UniProtKB_(protein):P43246#VAR_013171|Illumina_Laboratory_Services,Illumina:159995|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3116;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=17217716 2 47403219 91058 C CA . . ALLELEID=96533;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403220dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.29dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750589 2 47403219 91055 C T . . ALLELEID=96530;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47403219C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.28C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63751099 2 47403223 91068 T TG . . ALLELEID=96543;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47403225dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.34dup|Invitae:1945541;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750614 2 47403261 91187 C CA . . ALLELEID=96662;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403262dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.71dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779175 2 47403264 91193 G GC . . ALLELEID=96668;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403264_47403265insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.73_74insC;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779177 2 47403271 91226 CG C . . ALLELEID=96701;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403273del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.82del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779188 2 47403273 91225 G T . . ALLELEID=96700;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47403273G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.82G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63751246 2 47403283 91257 CCACCACAGTG C . . ALLELEID=96732;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403285_47403294del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.94_103del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750728 2 47403297 90546 CT C . . ALLELEID=96021;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403301del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.110del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751056 2 47403306 90563 CG C . . ALLELEID=96038;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47403310del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.119del_2;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750984 2 47403320 90621 T G . . ALLELEID=96096;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403320T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.129T>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750894 2 47403324 90639 GCGCACGGCGAGGACGCGCTGCTGGCCGCC G . . ALLELEID=96114;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Carcinoma_of_colon|Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403327_47403355del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.136_164del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751482 2 47403329 90654 C G . . AF_ESP=0.00023;AF_EXAC=0.00031;ALLELEID=96129;CLNDISDB=MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Malignant_Colorectal_Neoplasm|Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47403329C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:734732|UniProtKB_(protein):P43246#VAR_004470|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.138C>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=33946261 2 47403333 90662 G T . . ALLELEID=96137;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47403333G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.142G>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:11919;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750615 2 47403334 90673 AG A . . ALLELEID=96148;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403336del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.145del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750644 2 47403335 90672 GGA G . . ALLELEID=96147;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403336_47403337del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.145_146del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750334 2 47403345 90695 C CG . . ALLELEID=96170;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403345_47403346insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.154_155insG;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750352 2 47403351 90712 GC G . . ALLELEID=96187;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47403354del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4828799|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.163del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750337 2 47403354 90742 CG C . . ALLELEID=96217;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403357del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.166del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750087 2 47403355 220448 G A . . AF_EXAC=0.00001;ALLELEID=221202;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47403355G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=748196422 2 47403357 90741 G T . . ALLELEID=96216;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47403357G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.166G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=587779102 2 47403372 90794 C T . . ALLELEID=96269;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47403372C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.181C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:257;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750951 2 47403373 90809 A AG . . ALLELEID=96284;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47403378dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.187dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750160 2 47403373 90806 A AGG . . ALLELEID=96281;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47403377_47403378dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.186_187dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750160 2 47403373 90808 AG A . . ALLELEID=96283;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47403378del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4828807|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.187del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750160 2 47403391 90871 TG T . . ALLELEID=96346;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Breast_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47403395del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1787257|Invitae:4828810|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.204del|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_766;GENEINFO=MSH2:4436;MC=SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant;ORIGIN=1;RS=63750199 2 47403411 36573 C G . . AF_ESP=0.47588;AF_TGP=0.62840;ALLELEID=45235;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47403411C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:272|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3117|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.211+9C>G|Illumina_Laboratory_Services,Illumina:24768;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2303426 2 47403500 90891 T C . . AF_TGP=0.62720;ALLELEID=96366;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47403500T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.211+98T>C;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3815865 2 47407923 90894 T G . . ALLELEID=96369;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47407923T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.212-478T>G;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587779138 2 47408399 90893 A G . . ALLELEID=96368;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47408399A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.212-2A>G;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607917 2 47408400 90892 G A . . ALLELEID=96367;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47408400G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.212-1G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:273;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607914 2 47408402 237382 A G . . ALLELEID=238808;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47408402A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853808 2 47408410 90939 ATC A . . ALLELEID=96414;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47408412_47408413del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.223_224del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750712 2 47408415 90945 C T . . ALLELEID=96420;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47408415C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:276|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.226C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63750042 2 47408415 90953 CAG C . . ALLELEID=96428;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Breast_carcinoma|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47408416AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.229_230del|Invitae:293067|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_769;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749848 2 47408432 90973 TAAAATGAATTTTGAATCTTTTGTAAAAGAT CTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG . . ALLELEID=96448;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47408432_47408462delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.243_273delinsCTGACAAGC;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=1573436369 2 47408433 90975 A T . . ALLELEID=96450;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47408433A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.244A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779145 2 47408440 91002 A AT . . ALLELEID=96477;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47408444dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.255dup;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751158 2 47408443 91001 TTG T . . ALLELEID=96476;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47408444_47408445del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.255_256del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607921 2 47408449 91029 CTT C . . ALLELEID=96504;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN169374;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47408452_47408453del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2269239|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.263_264del|Invitae:4828819;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607920 2 47408456 1761 A AAAAGATCTTCTTCTGGTTCGTC . . ALLELEID=16800;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007;CLNDN=Lynch_syndrome|Muir-Torré_syndrome;CLNHGVS=NC_000002.12:g.47408458_47408479dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.269_290dup|OMIM_Allelic_Variant:609309.0009;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553350126 2 47408461 91050 ATCT A . . ALLELEID=96525;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47408462TCT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.279_281del|Invitae:180695;GENEINFO=MSH2:4436;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=267607919 2 47408466 91044 C T . . ALLELEID=96519;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47408466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_043743|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.277C>T;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751429 2 47408466 91046 CTT C . . ALLELEID=96521;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47408467_47408468del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.278_279del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749872 2 47408476 91053 G A . . AF_EXAC=0.00002;ALLELEID=96528;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47408476G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.287G>A|UniProtKB_(protein):P43246#VAR_004471;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750002 2 47408478 91054 C T . . ALLELEID=96529;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47408478C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.289C>T|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH2-A2;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750970 2 47408485 91060 GAGTTGA G . . ALLELEID=96535;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47408490_47408495del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.301_306del;GENEINFO=MSH2:4436;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=587779157 2 47408490 91059 G T . . ALLELEID=96534;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47408490G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.301G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750318 2 47408493 36575 G A . . AF_EXAC=0.00002;ALLELEID=45237;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47408493G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.304G>A_2|UniProtKB_(protein):P43246#VAR_043745;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922373 2 47408506 91062 G A . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=96537;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47408506G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.317G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:288|UniProtKB_(protein):P43246#VAR_038026|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851175;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41295286 2 47408528 36576 G A . . AF_ESP=0.00431;AF_EXAC=0.00273;AF_TGP=0.00100;ALLELEID=45238;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47408528G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:289|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3118|Illumina_Laboratory_Services,Illumina:291962|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.339G>A;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35898375 2 47408531 91066 GA G . . ALLELEID=96541;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47408533del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.344del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751195 2 47408533 91067 ATGAT A . . ALLELEID=96542;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47408536_47408539del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.347_350del|Invitae:4828832;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750501 2 47408540 91069 G GT . . ALLELEID=96544;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47408541dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:11935874|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.352dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779159 2 47408552 91070 T G . . ALLELEID=96545;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47408552T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.363T>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750458 2 47408556 91071 G T . . ALLELEID=96546;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47408556G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.366+1G>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840661;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607924 2 47409411 91079 TGGAGTGCAGTGGCGCCATCTGGGCTCACTGCAAACTCTGACTCCCTGGTTCAAGCTTTTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCAACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCGTGATCCACCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCATGCTCGGCTTTGATTGTGTCATTTGTATAGGCATGTGGTTTATTATTTAGTTATTTTTTTTTTTTTCTTTGAGGTGGAGTATCACTCTTGGTGCCCAGGCTGGAGTGTAATGGCGTGATCTCAGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCCCAGCAGGAGTAGCTTGGGATTACAGGCATGCCCCACCACACCTGGCCAATTTTGTGTTTTTAGTAGAGACAGGGTTCCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTATAGGCATGAGCCACGGTGCCCAGCATATTTAGATTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCACCCAGGCTA T . . ALLELEID=96554;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47409413_47411458del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.367-681_646-956del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47409613 91078 TGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCGTGATCCACCCACCTG T . . ALLELEID=96553;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47409628_47411030del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.367-480_645+644del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47409628 91077 TTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCGTGATCCACCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCATGCTCGGCTTTGATTGTGTCATTTGTATAGGCATGTGGTTTATTATTTAGTTATTTTTTTTTTTTTCTTTGAGGTGGAGTATCACTCTTGGTGCCCAGGCTGGAGTGTAATGGCGTGATCTCAGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCCCAGCAGGAGTAGCTTGGGATTACAGGCATGCCCCACCACACCTGGCCAATTTTGTGTTTTTAGTAGAGACAGGGTTCCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTATAGGCATGAGCCACGGTGCCCAGCATATTTAGATTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCCACGATCTTGGCTCACTGCAGCCTCCACCTTATGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCACATGCCAACACGCCCGGCTTATTTTTGTATTTTTATAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCTAACTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCATAGTTC T . . ALLELEID=96552;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47409642_47411692del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.367-452_646-722del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47409701 91076 TGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTCACCTCGTGATCCACCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCATGCTCGGCTTTGATTGTGTCATTTGTATAGGCATGTGGTTTATTATTTAGTTATTTTTTTTTTTTTCTTTGAGGTGGAGTATCACTCTTGGTGCCCAGGCTGGAGTGTAATGGCGTGATCTCAGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCCCAGCAGGAGTAGCTTGGGATTACAGGCATGCCCCACCACACCTGGCCAATTTTGTGTTTTTAGTAGAGACAGGGTTCCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTATAGGCATGAGCCACGGTGCCCAGCATATTTAGATTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCCACGATCTTGGCTCACTGCAGCCTCCACCTTATGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCACATGCCAACACGCCCGGCTTATTTTTGTATTTTTATAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCTAACTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCATAGTTCTGGGATTACAGGCATGAGCCACAGCGCCAGGCCTAGATGTTTCTTAAGGTATGTATCTCCCAAAGATTCTTTTTGTGGTCCTCAAGTACCATAAGCACCGCTGGAGATAACACATGTGATGGGCATTTTTAGCATAGATTGTATCTAAGCAACTTTCCACAAGTAATAGTTCTGTTAAGGGTTGTTATTGTGGCCGGGCGC T . . ALLELEID=96551;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47409723_47411901del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.367-371_646-513del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47410093 91075 G A . . ALLELEID=96550;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410093G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.367-1G>A;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607925 2 47410094 91086 GC G . . ALLELEID=96561;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410095del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.368del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750210 2 47410106 91088 AAT A . . ALLELEID=96563;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410107_47410108del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.380_381del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751227 2 47410107 36577 A G . . AF_ESP=0.02637;AF_EXAC=0.00699;AF_TGP=0.02476;ALLELEID=45239;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47410107A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.380A>G|Mayo_Clinic_Laboratories,Mayo_Clinic:291|UniProtKB_(protein):P43246#VAR_019234|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH2-A3|HGMD:CM011415|Illumina_Laboratory_Services,Illumina:546652|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3119;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=17217772 2 47410107 91089 ATC A . . ALLELEID=96564;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47410108TC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1033282|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.387_388del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=63750924 2 47410114 91090 TCA T . . ALLELEID=96565;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47410115_47410116del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.388_389del|OMIM_Allelic_Variant:609309.0026;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750704 2 47410125 91093 AC A . . ALLELEID=96568;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410126del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.399del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751290 2 47410132 91094 CT C . . ALLELEID=96569;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410135del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.408del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750408 2 47410141 91095 CA C . . ALLELEID=96570;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410143del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.416del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750401 2 47410152 91096 C G . . ALLELEID=96571;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47410152C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.425C>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750910 2 47410177 1768 TA T . . ALLELEID=16807;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0030840,MedGen:C5436806,OMIM:619096;CLNDN=Lynch_syndrome|Mismatch_repair_cancer_syndrome_2;CLNHGVS=NC_000002.12:g.47410181del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454del|OMIM_Allelic_Variant:609309.0016;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751449 2 47410198 91101 C A . . AF_EXAC=0.00109;AF_TGP=0.00240;ALLELEID=96576;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47410198C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:644245|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.471C>A;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61756463 2 47410199 91102 C T . . ALLELEID=96577;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer;CLNHGVS=NC_000002.12:g.47410199C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.472C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751226 2 47410205 91103 C T . . ALLELEID=96578;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410205C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.478C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63751426 2 47410209 91104 T A . . ALLELEID=96579;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47410209T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.482T>A|UniProtKB_(protein):P43246#VAR_012936;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750126 2 47410211 91105 G A . . ALLELEID=96580;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47410211G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.484G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852098|UniProtKB_(protein):P43246#VAR_043747;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750624 2 47410215 91107 T A . . ALLELEID=96582;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47410215T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_043748|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.488T>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750214 2 47410215 91108 T G . . AF_EXAC=0.00001;ALLELEID=96583;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47410215T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_022670|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.488T>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750214 2 47410217 91109 G A . . ALLELEID=96584;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410217G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_043749|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.490G>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=3;RS=63750582 2 47410218 188119 G A . . ALLELEID=185977;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410218G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=786204082 2 47410220 91111 T G . . ALLELEID=96586;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410220T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_067284|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.493T>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779163 2 47410226 91112 G C . . AF_ESP=0.00015;AF_EXAC=0.00011;ALLELEID=96587;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221576|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000002.12:g.47410226G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:87560|UniProtKB_(protein):P43246#VAR_004474|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.499G>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750255 2 47410230 91116 CCATA C . . ALLELEID=96591;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410233_47410236del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.506_509del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751013 2 47410232 91115 A G . . AF_EXAC=0.00053;AF_TGP=0.00060;ALLELEID=96590;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47410232A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:636881|UniProtKB_(protein):P43246#VAR_043750|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838846|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.505A>G|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH2-A5;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750716 2 47410235 91117 C T . . ALLELEID=96592;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47410235C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840184|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.508C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750843 2 47410236 91118 A AGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATT . . ALLELEID=96593;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410238_47410310dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.511_583dup;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553350789 2 47410238 91120 AG A . . ALLELEID=96595;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47410240del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.513del_2;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750933 2 47410244 91123 CT C . . ALLELEID=96598;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410245del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.518del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750069 2 47410245 91122 T G . . ALLELEID=96597;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47410245T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.518T>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750070 2 47410250 91126 CTG C . . ALLELEID=96601;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47410251TG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4828876|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.528_529del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779164 2 47410256 91128 G T . . ALLELEID=96603;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410256G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.529G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750382 2 47410256 91129 GAA G . . ALLELEID=96604;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410257_47410258del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.530_531del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750551 2 47410274 91130 C T . . ALLELEID=96605;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47410274C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.547C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750037 2 47410276 91132 GT G . . ALLELEID=96607;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47410278del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.551del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607928 2 47410284 91136 ATCTTGAGGC A . . ALLELEID=96611;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome;CLNHGVS=NC_000002.12:g.47410288_47410296del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.561_569del;GENEINFO=MSH2:4436;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=63750088 2 47410287 91134 T C . . ALLELEID=96609;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410287T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_043753|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.560T>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751444 2 47410287 91135 T G . . ALLELEID=96610;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410287T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_076352|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.560T>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751444 2 47410294 91139 TCTC T . . ALLELEID=96614;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47410295CTC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.571_573del;GENEINFO=MSH2:4436;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=587779165 2 47410300 91140 C T . . AF_ESP=0.01984;AF_TGP=0.01937;ALLELEID=96615;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47410300C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3121|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2686299|Illumina_Laboratory_Services,Illumina:484975|Mayo_Clinic_Laboratories,Mayo_Clinic:297|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.573C>T;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1800151 2 47410304 91141 C T . . ALLELEID=96616;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47410304C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.577C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751326 2 47410312 91142 AC A . . ALLELEID=96617;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47410314del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.587del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750682 2 47410317 91144 A AG . . ALLELEID=96619;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410319dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.592dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750786 2 47410320 91145 A G . . ALLELEID=96620;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47410320A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_054513|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.593A>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750327 2 47410322 91146 T C . . ALLELEID=96621;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410322T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.595T>C|UniProtKB_(protein):P43246#VAR_012937;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751110 2 47410326 91148 T A . . ALLELEID=96623;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410326T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.599T>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779167 2 47410337 91149 G T . . ALLELEID=96624;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410337G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.610G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750574 2 47410340 91150 G T . . ALLELEID=96625;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47410340G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.613G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749984 2 47410342 91151 G GA . . ALLELEID=96626;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410343dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.616dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750995 2 47410364 91152 CTG C . . ALLELEID=96627;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47410365_47410366del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.638_639del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751622 2 47410366 91153 GAGAC G . . ALLELEID=96628;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47410369_47410372del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.642_645del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751695 2 47410370 91154 C T . . ALLELEID=96629;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47410370C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.643C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751274 2 47410373 91155 G A . . ALLELEID=96630;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47410373G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852191|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.645+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607689 2 47410373 91156 G T . . ALLELEID=96631;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47410373G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.645+1G>T;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607689 2 47412408 91163 AAATAGATAATTC A . . ALLELEID=96638;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412411_47412422del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.646-3_654del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607929 2 47412411 91162 T G . . ALLELEID=96637;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47412411T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.646-3T>G;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607930 2 47412412 91161 A G . . ALLELEID=96636;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47412412A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.646-2A>G;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587779169 2 47412415 91172 TAATTC T . . ALLELEID=96647;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47412418_47412422del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.650_654del|Invitae:4828919;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751602 2 47412420 91173 C T . . ALLELEID=96648;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47412420C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.652C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779170 2 47412443 91175 AGAAA TAAT . . ALLELEID=96650;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412443_47412447delinsTAAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.675_679delinsTAAT;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779172 2 47412448 91178 G GA . . ALLELEID=96653;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47412455dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.687dup|Invitae:463937;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749897 2 47412448 91177 GA G . . ALLELEID=96652;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47412455del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1311871|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.687del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749897 2 47412453 91176 A T . . ALLELEID=96651;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412453A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.685A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779173 2 47412458 91179 TG T . . ALLELEID=96654;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412459del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.691del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779174 2 47412461 91180 CTT C . . ALLELEID=96655;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47412464_47412465del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4828928|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.696_697del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750426 2 47412469 91183 CA C . . ALLELEID=96658;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47412473del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.705del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281864944 2 47412469 91182 CAA C . . ALLELEID=96657;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47412472_47412473del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.704_705del|Invitae:4414350;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281864944 2 47412476 91184 CATTT C . . ALLELEID=96659;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412479_47412482del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.711_714del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751288 2 47412483 91185 C T . . ALLELEID=96660;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47412483C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.715C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750488 2 47412485 91186 GGACC TTA . . ALLELEID=96661;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412485_47412489delinsTTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.717_721delinsTTA;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750690 2 47412491 91188 C CA . . ALLELEID=96663;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412493dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.725dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779176 2 47412502 91190 T TG . . ALLELEID=96665;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412503dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.735dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750107 2 47412504 91192 A T . . ALLELEID=96667;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412504A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.736A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750881 2 47412509 91195 CA C . . ALLELEID=96670;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47412514del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4828941|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.746del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749832 2 47412522 91196 C T . . ALLELEID=96671;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47412522C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.754C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750347 2 47412524 91197 GATGA G . . ALLELEID=96672;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412527_47412530del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.759_762del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607931 2 47412526 91198 TG T . . ALLELEID=96673;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412527del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.759del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751160 2 47412527 91199 GA G . . ALLELEID=96674;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412529del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.761del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779179 2 47412531 91201 AGTG TT . . ALLELEID=96676;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412531_47412534delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.763_766delinsTT;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750329 2 47412534 91202 G GCT . . ALLELEID=96677;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412535_47412536dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.767_768dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779181 2 47412555 91204 AAT A . . ALLELEID=96679;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47412556_47412557del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.788_789del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751614 2 47412560 91208 G C . . ALLELEID=96683;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47412560G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.792G>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779183 2 47412561 91205 G A . . ALLELEID=96680;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47412561G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.792+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607934 2 47412567 91207 GGATTATAAATGTGAATTACAATATATATAATGTAAATATGTAATATATAATAAATAATATGTAAACTATAGTGACTTTTTAGAAGGATATTTCTGTCATATTTATCTCAAAACCTAAACTGTGTATCAATGATATTAAGCTTTTTTTTTTTTTTGAGACAGAGTTTCACTTTTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTTGGCTCACCACATCCTCTGCCTCCCAGGTTCAAGTGATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTCATCTTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCTATGTTGGTCAGGCTGGTCTCAAACTCCTGAACCTCAGGTGATCCGCCCGCCTCGGGCTTCCAAAGCGCTGAGATTGCAGGCATGAGCCACTGTGTCTGGCCTATTTTTATAGTTTATGTACTTGGAATTATATAATATATTCTGCCTAGCTTCTTTCATTCAATATTTGTAAGATTTATCCATATTATTGAGTGTAGTTGTGGATTTTTGCATTTATATTTCATAGCACGAGCATGTCAGAATTTATCCATTTTACTTCCCTTCTGCCCGCCACTGCTACTCTCCCCATTTTACCTTTTTTTTTGTTTTTTTGAGATGGAGTCTCAGAATTTCGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCACGGTCTCAGCTCACTGCAACTTCTGCCTCTGGGTTCAGCTGCACGCCACCATGCCTGGCTAATTTTTGTATTTTCAGTAGAGGGGATTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTGCCAGAGTGCTGTGATTACAGGCGTGAACCACCGTGCCCGACCCCCATTCTAATTTTGATGGACATTTGGGTAATTTTCATTTTTGGCTGTTATAAATACTGCTGCAATTACAGTTAATTTTCACAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGTGAGTTTCGCTCTTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTCAGCCCACTGCAACCTTCACCTTCTGGATTCAAGCAATTCTCCTTTCTCATCTCCTAAGTAGCTGGGGTTTACAGGCATGTGCCACCATGCCCAGCTAATTTTTGTATTTTAATTTCACAGTTCTGGAGGCTGGGAAGTTCAGAATTAAGGCACTGGCTGATCTGTTGTCTGGTGAGGGCCCACTTGTTCATAGATAACCATTTTCTCACTCTAACCTCACAAGGTTGAAAGGGCCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTATGTTGGCTAGGCTGGTCTCAAACTCCTAGCCTCGAGTCATCCACCCGCCTCGTCCTCCCGGAGTGCTTGGATTACAGCATGAGCCACTGCGCCCGGCCCCCATTTTAGTTTTGATGGACATTTGGGTAATTTTCTTTTTTGGCTATTCTAAATAATGCTGCAATTACTGTTAATTTTCACCTTGTAAAAACCATTTTCAAATCTCAAGAGATTAACCTTTAGTTTTCTTGGTTTGGATTGGGAAGGAACACCAAGGAAAATGAGGGACTTCAGAATTTATTTTCATTTTGCATTTGTTTTTTAAAATCTTTAGAACTGGATCCAGTGGTATAGAAATCTTCGATTTTTAAATTCTTAATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGTGCCCAGCCTACTTTTTACTTTTTTAGAGACTGGGCTTGGTGGAGTGAAGTGGCAAGATCATAGCTCACTGCAGTATTGAACTCCTGGGCTCAAGCGATCTTCCTGCTTCAACCTCATGAGTAGCTGGGTCTACAGGCACAAGCCACCATGCTTGCCTAATTTTAAAATTTTTGCAGAGTTGGAGTTTCACAGTGTTGCCCAGGATGTTCGCTCACTCCTGACTTCAAGTGATTCTTCTGCCTTAGCCTCTAGAGTGGTAGCTGGGATTACAGGCATGAACCACCATGCTCTGCTATTTTTTTTCAAGGTTTTTTTTTTTTTTTTTTTTTTTGAGAGACTGGTATGACTATGTATGCTCCCTAGGCTGGAGTGCAGTGGCTATTCACAGGAAGTGCCATCAGAGTGTACTACAGCTTCAAACTCCTGGGCTCAAGCACTTCTATCATAGTCTCCAAAGTAGCTGGGACTACGAGTGTGTCTCATTGTGCCTTGCTCTCGAATTGCTTTTTTTTTTTTTTTCTGGTTTCAAGCTATCTATGTGGTATTAGTCCTCACTTTATGAATAATTTTGTATACTACTAATAGCAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTAGCTCACTGCAACCTCTGCCTCTCCGGTTTGGGCAATTAGCTGGGATTAGAGGCGCCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCATCTTGTTGGCTAGGCTGGACTCTAACTCCAGGTGATCTGCCTGCCTCGGCCTCCCAAATTGATGGGATTACAGGTGTAAACCACTGGGCCTGGCCTAGCAATTTAAAATGACATTCTAAGAAGTTTTATGTCTAAATCTGCAGTAAGTGGCTGGGTGACGTGGCTCATGCCTGTAATCCCAACGCTTTGGGAGTCCAGGGTGGGAGGAT G . . ALLELEID=96682;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47412570_47415848del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.792+8_943-450del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47414262 91212 ATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT A . . ALLELEID=96687;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414263_47414868del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.793-6_942+450del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1;RS=1553352366 2 47414267 91210 A C . . ALLELEID=96685;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414267A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.793-2A>C;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607933 2 47414269 91219 GT G . . ALLELEID=96694;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414271del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.795del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749902 2 47414283 91222 ACTGT A . . ALLELEID=96697;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47414287_47414290del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:194786|Invitae:1208173|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.811_814del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779185 2 47414284 91221 CTG C . . ALLELEID=96696;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414286_47414287del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.810_811del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751133 2 47414291 41651 C T . . AF_ESP=0.00038;AF_EXAC=0.00024;ALLELEID=50090;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221576|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000002.12:g.47414291C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.815C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2455235|UniProtKB_(protein):P43246#VAR_043756;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34136999 2 47414311 91227 CT C . . ALLELEID=96702;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414312del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.836del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751159 2 47414313 91228 C CT . . ALLELEID=96703;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414315dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.839dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750091 2 47414318 91229 C A . . ALLELEID=96704;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414318C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.842C>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749991 2 47414328 91231 CA C . . ALLELEID=96706;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414330del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.854del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750701 2 47414335 91232 G T . . ALLELEID=96707;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47414335G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.859G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750276 2 47414338 91233 C T . . ALLELEID=96708;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47414338C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.862C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750097 2 47414338 91234 CA C . . ALLELEID=96709;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414339del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.863del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779189 2 47414344 91235 G T . . ALLELEID=96710;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47414344G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.868G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779190 2 47414345 91236 AACTG A . . ALLELEID=96711;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47414349_47414352del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.873_876del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779191 2 47414354 91237 CTT C . . ALLELEID=96712;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414357_47414358del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.881_882del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751115 2 47414363 91238 TC T . . ALLELEID=96713;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414364del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.888del_2;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779192 2 47414368 91239 C T . . ALLELEID=96714;CLNDISDB=MONDO:MONDO:0001464,MedGen:C0153436|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Malignant_tumor_of_sigmoid_colon|Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47414368C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.892C>T_1;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750934 2 47414370 91240 G GTA . . ALLELEID=96715;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47414372AT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.898_899dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750885 2 47414377 91241 A T . . ALLELEID=96716;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414377A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.901A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749915 2 47414381 91242 T A . . ALLELEID=96717;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47414381T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.905T>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749914 2 47414390 91244 C CAGCAGTCA . . ALLELEID=96719;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47414391_47414398dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.915_922dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750046 2 47414405 91245 T C . . ALLELEID=96720;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47414405T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.929T>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750640 2 47414418 91251 G A . . ALLELEID=96726;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414418G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.942G>A;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587779197 2 47414419 91247 G T . . ALLELEID=96722;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47414419G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.942+1G>T;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779193 2 47414419 91250 GT G . . ALLELEID=96725;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47414420del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.942+2del;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779194 2 47414420 91249 T G . . ALLELEID=96724;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47414420T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.942+2T>G;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779195 2 47414421 36580 A T . . ALLELEID=45242;CLNDISDB=.|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Breast_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47414421A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_786|OMIM_Allelic_Variant:609309.0011|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.942+3A>T|HGMD:CS941511|OMIM_Allelic_Variant:609309.0021|Mayo_Clinic_Laboratories,Mayo_Clinic:302|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2437517;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=3;RS=193922376 2 47416294 91254 A G . . ALLELEID=96729;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47416294A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.943-2A>G;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587779198 2 47416295 91252 G A . . ALLELEID=96727;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47416295G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.943-1G>A;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=12476364 2 47416295 91253 G C . . ALLELEID=96728;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47416295G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.943-1G>C;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=12476364 2 47416297 41652 G T . . ALLELEID=50091;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47416297G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202026056 2 47416310 91258 T TA . . ALLELEID=96733;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416311dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.958dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749852 2 47416318 1762 G A . . AF_TGP=0.00619;ALLELEID=16801;CLNDISDB=.|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=MSH2_POLYMORPHISM|Breast_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47416318G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3130|OMIM_Allelic_Variant:609309.0010|Illumina_Laboratory_Services,Illumina:24780|UniProtKB_(protein):P43246#VAR_004477|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.965G>A|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_760|Mayo_Clinic_Laboratories,Mayo_Clinic:304;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4987188 2 47416322 91262 TCA T . . ALLELEID=96737;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47416323_47416324del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.970_971del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751044 2 47416323 91261 C T . . ALLELEID=96736;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47416323C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.970C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:305;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750502 2 47416325 91264 G A . . AF_EXAC=0.00010;AF_TGP=0.00040;ALLELEID=96739;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47416325G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.972G>A|Illumina_Laboratory_Services,Illumina:1299469|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851537;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63750505 2 47416325 91266 G GT . . ALLELEID=96741;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416326dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.973dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749945 2 47416337 91269 C T . . AF_ESP=0.00115;AF_EXAC=0.00543;AF_TGP=0.00779;ALLELEID=96744;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47416337C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:69925|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:9657|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.984C>T;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=4987189 2 47416342 91270 T C . . ALLELEID=96745;CLNDISDB=Human_Phenotype_Ontology:HP:0002253,Human_Phenotype_Ontology:HP:0005860,MedGen:C0012819|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Colonic_diverticula|Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416342T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.989T>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750630 2 47416344 91271 A G . . AF_EXAC=0.00001;ALLELEID=96746;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47416344A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.991A>G|UniProtKB_(protein):P43246#VAR_054514;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607938 2 47416351 91273 G A . . ALLELEID=96748;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47416351G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.998G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2856036|UniProtKB_(protein):P43246#VAR_043759|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_17300_605;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750828 2 47416353 90498 A T . . ALLELEID=95973;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416353A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1000A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779063 2 47416356 90501 AC A . . ALLELEID=95976;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416360del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1007del_2;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779064 2 47416362 90502 C T . . ALLELEID=95977;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47416362C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1009C>T|HGMD:CM010345;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750778 2 47416366 90504 G A . . ALLELEID=95979;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch-like_syndrome|Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416366G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1013G>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=3;RS=587779065 2 47416368 90506 C CA . . ALLELEID=95981;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Carcinoma_of_colon|Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416371dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1018dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750703 2 47416368 90505 CAA C . . ALLELEID=95980;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416370_47416371del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1017_1018del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750703 2 47416375 90507 T C . . ALLELEID=95982;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47416375T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1022T>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751147 2 47416383 36561 C T . . ALLELEID=45223;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47416383C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1030C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841706;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750245 2 47416387 90509 G A . . ALLELEID=95984;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47416387G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1034G>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63751027 2 47416388 90510 G A . . ALLELEID=95985;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|not_provided;CLNHGVS=NC_000002.12:g.47416388G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1035G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:224;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750396 2 47416389 90511 A ATT . . ALLELEID=95986;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416390_47416391dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1037_1038dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751483 2 47416399 90513 C G . . ALLELEID=95988;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47416399C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1046C>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779067 2 47416399 90514 C T . . ALLELEID=95989;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47416399C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1046C>T|UniProtKB_(protein):P43246#VAR_043763;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779067 2 47416399 561171 CT GC . . ALLELEID=552275;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47416399_47416400delinsGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1558466685 2 47416411 90515 AG A . . ALLELEID=95990;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416412del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1059del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779068 2 47416428 90517 A T . . ALLELEID=95992;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47416428A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1075A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779070 2 47416430 90519 G A . . ALLELEID=95994;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47416430G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1076+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607940 2 47416430 90520 G T . . ALLELEID=95995;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47416430G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1076+1G>T;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=267607940 2 47419829 90521 C T . . AF_TGP=0.12640;ALLELEID=95996;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47419829C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1076+3400C>T;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4952887 2 47427705 90526 G T . . AF_TGP=0.01837;ALLELEID=96001;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47427705G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-2037G>T;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=13425206 2 47429513 90527 CGGGGTTTCTCCATGTTGGTCAGGCCAGTCTCGAACTCCCTACCTCAGGTGATCTGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTTCAACTCATACAATATATACTTGGCAATGTGCTGTCCTCATAAAGTTGGTGGTGGTGACTCACTCTTAGGACACATTCAGATTTCTTTTTTTTTTTTTTTTGAGAAGGAGTCTTGCTCCGTTGCCAAGGCTAGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTGTACTTTTAGTTTTACCATGTTGGCCAGGTTCGTCTGGAACTCCCAATCTCAGGTGACCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACAGAGCCTGGCCATGTTCAGACTTCTAATAACAGGTTTGTATTGACTCTTAGCCTCATGGCAGAAGCCAAGAGACATGAGACAGCTTAGAAATTTTTGCTTTTTGGAAATGAATGTTAGAGTTACTGGTTTGTGATTAAGGCCTATTGCACTGACAGAGGCAGTGAAAAAGGGTTTGATTGCCAAGGAAGATTCACAGGGCCTAGAATGGCAGTGGTTATGCATCTACAGTTTATTACAGGAGAAGGATACAATCCAGTAGCAGGATTATGGTAAGGATATGCATCACAGTCAAAGGCTGTCATAGCAAGTCATCCAGAGAGTTCGGGTGCAAGTTCCAGTTTTCCTTTGTTGTGTAAAGTCTGTGGTGGGGTGCATTTTCTCTCTCAGAGCAGGATGTGTGCACAGGACACCTTGGAACCTAGGAGCCCAAAATAGAGTCTTCACTGGACTTTTTAATATTTTTCTTGTCAAGCGGACATGTTCCTGTTCTCTAACTAGCCTCTTCAGTGGAGGTCAGAGGAAGAGCCTCATTGAGACCAAGTGCAACTCATCAATCACATGAAACAATGCTGATAAATAAACCACCTAAATATCCCCTGACCCACAAATACAAAACAACACCATTCAATCAGTATTTTTCATGCCTTGATCAGGGGTCATTGCCATGCAGGAACTTTAACAAAACAGTACAGGCTAATAATAGAATTGTTGGAATTAACTCACACAGCACACCTATGAGAGAGAGTTAAGATAGAGGGTCTTGGTGGTCTCTAACAGTTGAATTCAAAGTGAAGTTACCAGAGTAAAGTGAGCAAAGACACATATTAGTACAATATTGGTAGATAAAATCACGTTGCTCTAATAAGCATAGTTTTAAACTTTAACCATGTTTCTCCAGTAATTTTAGTAATTATATTGTTGTTATGTCTAATACATAAAGCATTTTTTACTTTTTTAAAAAATTTTTAGGCAATGTGGGGTCCAAAGTAATTAAAAAAAAATTTTTTTAACATAAAGCATCTTAAAATTTTACTTAATCATGATCACTTAGAACCATTAAAACATACGTTTTGATATTATGGGGAAGCTTCGTTGTTCCTTTGTAGACAGACTTAAAGAAATACAACTTTATGATGACAAGATATAAGATAATTATAGATTTAAATTTTATAGAAACCTTTTCCCTTATCTAGTGCAAGAGGTAGCTAAGTGCTTATTTTCTCAAAGTACTGTGTTATAAAAAGTATTCCTAGTGTAGTCAAAGCTTCTCTTTAGACTGATAAAACTTAGAGCACCTGCATTTACTTCCAACAAAGCAGAATTAAAGAAAATGAGACTTGGCCGGGTACGTTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTTAGGAGATCAAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCTGACATGGTGGTGCGCACCTGTAGTCCCAGCTTCTCAGGTGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCGCTCCAGCTTGGGCAACAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGAGTCTTTACTGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGACGGGCAGATCACCTGAGGTCGGGCATTCGAGACCAGCCTGACCAATATGGAGAAACCCCATTTGTACTAAAAATACAAAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCCTGAACCCGGGAGGCGGAGGTTGCGGTGAGCAGAGATCGTGCCGTTGCACTCCATTCTGGGCAACAAGAGCGAAACTCTCCATCTCAAAAAAAAGAAAATGAGTCTATACTTTGCTGTTTTCATACTCTCTTAGTGTGGTGTAGGCAGCCATGTATCCCCCTTGTGCCTCTATTTCTCCATTCTGTGAATGAGTGTCTTCCACTGCTGTGCTTTTCTGATTCCGTAACCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCACAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAATGAGCGTGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAATCCGTTCAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAATAATTTTTCGTAGTACAGAACAAAATGAAAAGTCTCCCACGTCTACCTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCGTTCTCAATGAGCTGTTGAGTACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTACCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCGGATGGGGTGGCTGGCCGGGTTGGGGGCTGACCCCCCGCACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTGCCTCCAGGACGGGGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACATCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCTCTCCTGGCTGGGCGGCTGGCTGGGCGGGGGGATGACCCCCCCATCTCCCTCCTGGATGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCACCTCCCTTCCGGACGGGGTGGCTGCCGGGCGCAGACGCTCCTCACTTCCCAGACGGAGTGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGTGTGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACATCCCAGACGGGGCGGCAGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCTGGTAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGAGGCTCCTCACATCCCGGACGATGGGCGGCCAGGCAGAGATGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGCGGGGCCAAGGCAGGCAGCTGGGAGGTGGAGGTTGTAGCGAACTGAGATCACGCCACTGCACCCCAGCCTGGGCACCATTGAGCACTGAGTGAACGCGACTCCGTCTGACATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAATACCAAAACCAGTCAGGCGTGGCGGCGCGCACCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGTAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTTGGCTCGGCATCAGGGGGAGACCATGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAACCTTTTGTTTTATTCCAGTAGGACCAGCTAGAAACAGAAGGTGATTGACCAGTATTAGGGATGGAATCAGGGTACAATTATGGAGACAGGCTATCTAAACAATTCACTCTCACCATTTAAATCAGCTGTTTGATCATTTTTTTTCCATATATCTTTACCATCGCATAGTAAATAATATCCTTTTTATTTTCAAGAGGGAGTATTGGCCTTAAGTTAGGAACTCTCTTAATTTTTTTCCCCCATCATCCCACCCGCACTTCTTACTCCTTACTTCCTACTTGCTTTTATTCTTTACTGGCTCTTTACCACTGCGTATTTTTAGGTGCATACATCTATTTTTTAAAAAAGCACCCTTGTTCCTGGGTCCTCTTCCAGTACCATCTATTAATATATCTCTCTCCCTCTTTCCACTCCCAGCTGGGTTTCTGAAAGCGTGCACTTCCCATCTTCCATTCATTCATCTGGTTTCCAGCCCTGACCACAGTACTGAAATGGCATTTGCTAGGTGACCTTTATTTTTTTTTAAATCCAGTGAATGCGGTATAGTCCCCCCGCTTTTTTCTTTCTTTTTTTTTTTTTGTTTTTTGTTTTTTGTTTTTTTGAGACAGAGTTTTGCCCTTGTTGCCCAGGCTGGAGTACAATGGCGTGATATCGGCTCACGGCAACCTATGCCTCCCCAGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGATTACAGGCACCTGCCACCACAGCTGGCTAATTTTGTATTTTTAGTAGAGATGGGTTTTCTCGATGTTGGTCAGGCTGGTTTCGAACTCCCGACCTGAGGTGATCCACACACCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTTGGTATAGTCTTTAACGAAAGTTCACTGATCTTGAAAATTTTGATCTTGAAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAGTAGCTAGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACTACATTGGCCAGGATGGTCTTGAACTCCTGACCTCATGATCCACCCACCTCGGACCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCCAGCCTTGAAACTCTCCTAAGGTTATGTTAAACATTTTTGTATTCTTGGTTTTCTTTTTGTTCCATGGGTTATTTCTCTTTATCCTTCTTTTTAGCTTTCTTAAGTGTTCCTTTACCTTATCAAATTCTATTTTTGGCTCCCATTTCACTTAATAAGAGGAAAAGCTGGGATTTTTTTTTTTCTTTTGTGGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCCAACCTCCGCCTTCTGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCTGTGTAGCTGGGATTGCAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATG C . . ALLELEID=96002;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429522_47436186del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-220_1276+6245del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47429605 90523 G GTGAGCCACTGCGCCCAGCAGATTCAAGCTTTTTAAATGGAATTTTGAGCTGATTTAGTTGAGACTTACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGTAACAAGTGATTTTGTTTTTTTGTTTTCCTTCAACTCATACAATATATACTTGGCAATGTGCTGTCCTCATAAAGTTGGTGGTGGTGACTCACTCTTAGGACACATTCAGATTTCTT . . ALLELEID=95998;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429607_47430060dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-135_1276+119dup;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1;RS=1553356484 2 47429662 36564 G A . . AF_TGP=0.59365;ALLELEID=45226;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47429662G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-80G>A;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2347794 2 47429732 36562 T C . . AF_ESP=0.01334;AF_EXAC=0.01497;AF_TGP=0.00779;ALLELEID=45224;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47429732T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3131|Mayo_Clinic_Laboratories,Mayo_Clinic:225|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-10T>C|Illumina_Laboratory_Services,Illumina:24826;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=17224360 2 47429740 90528 A C . . ALLELEID=96003;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47429740A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-2A>C;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607943 2 47429740 90529 A G . . ALLELEID=96004;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN235283;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|none_provided;CLNHGVS=NC_000002.12:g.47429740A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-2A>G;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607943 2 47429740 90530 A T . . ALLELEID=96005;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429740A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-2A>T;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607943 2 47429741 90524 G C . . ALLELEID=95999;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47429741G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-1G>C;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607944 2 47429741 90525 G T . . ALLELEID=96000;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47429741G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-1G>T;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607944 2 47429742 90539 A T . . ALLELEID=96014;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47429742A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077A>T;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751617 2 47429762 90543 T TA . . ALLELEID=96018;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429762_47429763insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1097_1098insA;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607693 2 47429763 90544 TG T . . ALLELEID=96019;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429764del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1099del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779073 2 47429772 90545 TG T . . ALLELEID=96020;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429773del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1108del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749814 2 47429782 90547 AG A . . ALLELEID=96022;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429784del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1119del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750516 2 47429785 90548 C T . . ALLELEID=96023;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429785C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1120C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750558 2 47429791 90549 T TTA . . ALLELEID=96024;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429792_47429793dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1127_1128dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751219 2 47429794 90550 C T . . ALLELEID=96025;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47429794C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1129C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750267 2 47429801 90551 AT A . . ALLELEID=96026;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429804del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1139del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750039 2 47429808 90552 T TC . . ALLELEID=96027;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429809dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1144dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750496 2 47429812 90554 C T . . ALLELEID=96029;CLNDISDB=.|Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Rhabdomyosarcoma|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429812C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1147C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843817|Mayo_Clinic_Laboratories,Mayo_Clinic:227|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3132;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63749849 2 47429830 90557 C T . . ALLELEID=96032;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429830C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:228|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2628263|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1165C>T_2;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779075 2 47429833 41641 C T . . AF_ESP=0.00008;AF_EXAC=0.00166;AF_TGP=0.00280;ALLELEID=50080;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47429833C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_004478|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1168C>T|Illumina_Laboratory_Services,Illumina:154836|HGMD:CM983445;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=17224367 2 47429848 90558 C T . . ALLELEID=96033;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429848C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1183C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750302 2 47429854 90559 C T . . ALLELEID=96034;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429854C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1189C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750611 2 47429856 90561 A AG . . ALLELEID=96036;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429857dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1192dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751169 2 47429860 90562 G GCA . . ALLELEID=96037;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429861_47429862dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1196_1197dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749850 2 47429867 90564 T TA . . ALLELEID=96039;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47429868dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1203dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750586 2 47429868 90566 AC A . . ALLELEID=96041;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47429869del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1204del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751413 2 47429869 90565 C T . . ALLELEID=96040;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47429869C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1204C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751412 2 47429878 90568 T TACCG . . ALLELEID=96043;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429881_47429884dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1216_1219dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751192 2 47429880 90567 C A . . ALLELEID=96042;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429880C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1215C>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751271 2 47429881 1755 C T . . ALLELEID=16794;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429881C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2636280|Mayo_Clinic_Laboratories,Mayo_Clinic:230|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1216C>T|OMIM_Allelic_Variant:609309.0003;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751108 2 47429883 90572 ACT A . . ALLELEID=96047;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47429884CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1221_1222del|Invitae:4829129;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779076 2 47429886 90573 C CT . . ALLELEID=96048;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429887dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1222dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751142 2 47429890 90577 CAG C . . ALLELEID=96052;CLNDISDB=Human_Phenotype_Ontology:HP:0000138,Human_Phenotype_Ontology:HP:0000146,MONDO:MONDO:0003282,MedGen:C0029927|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Ovarian_cyst|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429891_47429892del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=GenePathDx,_GenePath_diagnostics:GPDx_MSH2_001|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1226_1227del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750086 2 47429904 90580 ACTAC A . . ALLELEID=96055;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429908_47429911del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1243_1246del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751206 2 47429911 90581 AATGTT A . . ALLELEID=96056;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429914_47429918del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1249_1253del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779079 2 47429913 90582 TG T . . ALLELEID=96057;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429914del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1249del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751059 2 47429920 90583 C A . . AF_EXAC=0.00061;AF_TGP=0.00080;ALLELEID=96058;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Hereditary_breast_and_ovarian_cancer_syndrome|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47429920C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_012940|Illumina_Laboratory_Services,Illumina:885669|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1255C>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2602234;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750006 2 47429920 90584 C T . . ALLELEID=96059;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429920C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1255C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:233;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750006 2 47429929 90588 G GA . . ALLELEID=96063;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429934dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1269dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751667 2 47429929 90587 G T . . ALLELEID=96062;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429929G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1264G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751712 2 47429942 90590 G A . . ALLELEID=96065;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47429942G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=MutSpliceDB:_a_database_of_splice_sites_variants_effects_on_splicing,NIH:CA017744|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=267607950 2 47429942 90591 G C . . ALLELEID=96066;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429942G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276+1G>C;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607950 2 47429942 90592 G T . . ALLELEID=96067;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47429942G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276+1G>T;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607950 2 47429943 90595 T A . . ALLELEID=96070;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47429943T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276+2T>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607953 2 47429988 90596 T A . . AF_EXAC=0.00081;AF_TGP=0.00300;ALLELEID=96071;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47429988T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276+47T>A;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148018406 2 47429992 90597 C A . . AF_ESP=0.01970;AF_EXAC=0.00588;AF_TGP=0.01957;ALLELEID=96072;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47429992C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276+51C>A;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=17217961 2 47436706 90598 G A . . AF_TGP=0.59924;ALLELEID=96073;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47436706G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276+6765G>A;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3771274 2 47438558 90608 T G . . AF_TGP=0.05811;ALLELEID=96083;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47438558T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-6990T>G;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=13408008 2 47439699 90607 T C . . AF_TGP=0.08247;ALLELEID=96082;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47439699T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-5849T>C;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=17036577 2 47441469 427611 GAATTACAGGTCCGTGCCACGATGCCCGGCTAATTTTTGTATTTTCAGTAGAGGTGGAGTTTCGCCATGTTGGCCAGGCTGGCCTCAAACTCTTGGCCTGAAGCAATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACGGTGTGAGCCACTGCTCCTGACCCCATATTTTTTCTTTTAATTATAAAGGTAATAATGTAAAAAGAAGTCAACTCCCAGTTTAACTCTAGCAGAGTAACCAGTGTTAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTATTTCCCAGGCTGGAGTGCAGTGATGCCATCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCCATTCTCGTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGCGCCCAGTGCCACGCCTGGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTGTTGAACTCCTGACCTCGTGATCCACCCGCCTCGATGCTGGGATTACAGGCGTGAGCCACTGAGCCTGGCCAATCCATTCCTTTTTATGGCTGAGTAGTATTCCATTGTGTGTGTGTGTATATATACATATATATACACACATATACATATATATACACGTATATATGTATGTATGCGTATATATGTATGTGTGTGTGTATATATACACATATACATATATATACACCTATATATGTGGTATGTGTATATATATGTGGTATGTATATATATGTGGTATATATATGTGGTATGTGTATATATATATGTGGTATGTGTATATATATATGTATATATGTGTGTATATATGTGGTATGTATATATATATGTATATATGTGGTATGTATATATGTATATATGTGTGTCTGCATATATGTATATGTGTGTATATATACACGTATATGTGTATATATATACGTATATATGTGTATATATACATATATACGTATATATATACACACACACATATATATACACATATGCAGGCACACATATATATACATATATATATATACATACCACAGTTTCTTTATCCACTTGTTGATTCATGGGCATTTGGGTTGGTTCCACGTTTTTGCAATTGTGAATTGTGCTGCTATAAACATCCGTGTGCAAGTATCTTTTTTGTATAATGATATCTTTTCCCCTGGGTAGATACCCAGTAGTGGGATTGCTGGATCAACTGGTAGTTCTACTTTTAAGGAATCTCCACACTGTTTTCCTTAGTGGTTATACTGGTTTACATTCCCACCAGAAGTGTAGAAGTGTTCCCTGTTCACTGCATCCACACCAACATCTATTTTTGATTTTTTGATTATGGCCATTCTTGCAGGAGTAAGGTGGTATCGCATTGTGGTTTTGATTTACATTTCCCTGATCATTAGTGATGTTGAGCATTTTTTTATGTTTGTTTGCCATTTGTATATCTTCTTGAGAATTGTCTATTCATGTCCTTAGCCCATTTTTTGATAGGATTGTTTGTTTTTTTTCTTGCTAGTTTGTTTGAGCTTGTTGTAGATTCTGGTTATTAGTCCTTTGTCAGATTTATAGATTGTGAAGATTTTTTTCCCACTCTGTGGGTTGTCTGTTTTTGTCTGTTTCCTTCTGCTGACTGTTCCTTTTGCCATGCAAAAGCTCTTTTTTTTTGAGACAGAATCTCGCTCTGTCGGCCAGGCTGGTAACAAAGACACAGGTACTGGTAATAACTGCCATGGCTTATTGCCTACATTAATGATGAAAGCAAATGCTAAATTTCAGCTAGAGGCTAGAGAAAATAAGCCTGGAATTTTCTTTTATGTTTATATACTGCTATGAATACCAGGAGTCCTTGGGTTAAGACTGTAGGGCTTTCTAAAGCCTGTGATCACTAGTGGAGAATGTAGCTTTACAAAGTCTAGTTGGAAATTGGCAACTGGGGGTTAGTACAAGTTACAAGGAAGGGATGGAATTTAAGATGCTAGTGAAAGCTTGGAGGATAAGGGAGCAGGTGAACTCATAAGGAAGTTTATGAACTGAGAAGGGCTGCAGCAAAGTGGGCTCATGTGCTTGAGGAGCCAGAGGACATGTTGAGGGTGACATAGGTTCTGAAGTTCGTACAGATACTTATGCAGTATGGATTCTTGGAAAACCTTCTTTAGTCATGTGATAGAAAAATAACAGCTTATGGAAAAAACAGGGTTGAGGCAGACCTGAAAATACATGAAATTTTAAAAACCGCTTCTAACAGAAGCATAACAGACTGTAATAAAAACTGTGGCCTTCCTGGCATTTGCACCCAAACAACAGCATTAGCCAACTCTTTGAAGCCTTAGATCTGTGGCTCTTGTTTTCTCCTTTGAGGTGTAGGTCCTTGAGGGCATTTGCTTCTAATAGAGGCTAGTTTCATCAGAATTAAAAATCTGAACCATGGTATGAAATTCAATTCTTTTTTTTTTTTCTTTTTTGAAAACACTGGCAAATGTTTTGTATCCTTGAGCTTTCCCACATATCTTAACATAGTGAGTGGAAAGTACAGTGGCTGTTAAGCCAACTACTCTGAGGTCTTCACTGCTAAGGCTTACTCTTAATTGTGTGAGAGCTTAACCTTGATCCCTTTAAAACATTAATGGGCTAGAAAAAAAACCATTCATAAACCAGTGCCACCTCTGAATTTTGCTACCACAATTCCCTTATTTACCAATAGTGCATGAGCTAATTTGGAATAAAGAACTAGGCATTGTAGCACAACAGACATTATGTGGGCAAAGTGTTGTTTATATTCTGTCTAAATAGTGCTTCACATGTATGTACTATTTTCTAAATATGTATAGATGCTTTTGTGATTAATAATAAAACATGAATTCTTAAAACAATTTTGCTGACTTCATAGTAGCTTTTCACCGTTTTTTCAGTAGCTGCTAAAATTTCTGGAGAAGTTTGGGAACTATTGTTTTGGAGTGAAATGCAGTGTGTTAGATATCACTTGCAGAATTCTTCTAAGGGTATTTATTGGCGATTAGAAAAAAAATCCTTGTGTTATACCAGTAGTAATACAAAGTAATTGTTCAGCTTCTGTTAAGTGTAAAGGACTATACAAGTATTGTGTATAGTTATCTCATTTATTATTTTCTGGGTAGCTATTGTTATTATTACTTCGTACAAAAAGGGAAAAGGAGGCTCAAAGTATCATGCTCCAGATAACAGAGCCAGTAGGTAGCAGAGCTGGGATTGCTACCCAGGTCTCTAGTCCTGCTTTTTCACACTATATACTCATTGCTTCACTTACTCCTTCATACATGATTCCCCAGCATGTACTCTTTTTTTTTTTTTTTTTTTTTTGTTTGAGATAGAATCTCGCTCTCTGTTGCCCAGGCTGGCAGGCAGTAGTGTGATCTTGGGCTAACTGCAACCTCCATCTCCTGCATTCAAGCAGTTCTCCTGCTTCAACCTCCTGAGTAGCTGAGATTATAAGCCTATGCTACCACGCCTGGCTAATTTTTGTATTTTTAGCAGAGATGAGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCTGCCCACCTCAGCCTCCGAAAGTGCTGGGATTATAGGCATGAGCCATCATGTCCGGCCTCCCCATCATGTACCCTTAAATACCATCAAGCACAGTTCCATTGTGTAAAAACTTGGCTTGATTTAACCTGTTAATTGGAACACTGTCATTAATGGAAATTAGGAATATGAGGTAAGCTAGAGGTTTTATTTTAATGACTTTGGGTTATTAAATCTATAAGAAATGAAATTCATTTAGTCATAATTAATGTCATGTTTCTGCATCTATATTACTTGTTGGGTTTACAGACGAGGTAGTGTATTATTAGTGGGAAGCTTTGAGTGCTACATCATCTCCCTTTCTATAAAATAAATTGAGTACGAAACAATTTGAATTAAAACACCTGAGTAAATAGTAACTTTGGAGACCTGCTGTACTATTTGTACCTTTTGGATCAAATGATGCTTGTTTATCTCAGTCAAAATTTTATGATTTGTATTCTGTAAAATGAGATCTTTTTATTTGTTTGTTTTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGGTATGCAATATACTTTTTAATTTAAGCAGTAGTTATTTTTAAAAAGCAAAGGCCACTTTAAGAAAGTTTGTAGATTTTTCTTTTTAGTATCTAATTGTAGCACCTTTGTGGACAGTGGATGTAATATTAAGTGACAGATGGGAAAAGGATTTTTAAAAAAATAGCAACTGTTTCAGTGGATGAAATAAAGATTATTAGCAGAGAAAATGAATATTGGGCATAACTGTCCTGGTGAAAGACAATCTCATAAATGAACAATTTCATAATTTCGTAAATGCAACTGCATTTTATTTTCAAAGAGAAGGAAAATTATAGTCACTGGAAACGGAAAGAGAAGTTAGAGGTAAACATAGGACACACAAGAAAACTTTCATTTTGTTTATTTTCTTGTTTTTCTTTTGAGACAGGGTTTCCCTCTGTTACCCAGGCTTAAGTGCAGTGACACTATCATAGTTCACTAACCCCTCAAATTCCTGGGTTCAAGTAATCCTCCTGCCTTAGCCTTAGTAGGTGTAAATACAGGTGTGTACCACCATGCCTGGCGAATTTTAAAAAAACTTTTTTATAGAGATGAGCTCTCGCCGTGTTGCCCAAGCTGGTCCTAAAACGCTGGCCTCAAGCTATCCTCCGGCCTCAGTCTTAGCCTCCCAAAATGCTGGGGTTTCAGTAGAAGCCACCATGCCGGGCCACTTCTGTTTCTTTTCCATGTAGAGTTCTTTGCAGGAGGAGGTTAGAATAGGTGTGCATCTCCTAAATAGTTGTCGAATATAACTAAAAAGTTAACCAGGACTCTAAATACTATTTACTTCTAAAATTTGTTAATTGGGAACATTTAGGGTTTAACTGATCTATATCTTATGTCTTTAACAATTTTGAATGATAATTATATGTAAAGTAAGAACAGTTTGTGAAATAGTTGAAAATATCCTTACATGAAAGTGAATTTTAAAGCACAGTTTATGTAATGTTAATGTTTTGTTTTGTATCTGTTAAAAATTTGTTTATATGAACAAGTTTACAGGTTTACTGTGGTGAGCCCGTTGAATATAGTGGGTTTTTTTTGTTTGTTTTGTTTTTGTTTTTGAGATGAAGTCTCACTCTTGTCCCGAGGCTGATGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGTCACCAAACCCGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATCTCAGCATGTTGGCCAGGCTGGACTCAGGTGATCCGTCTGCCTCGGCCTCCCAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCGAGCCTGAATATAGTGTTTTTAAGTTGCAGGACTTTAAAAATAATATTTTGAAATTTTTCTAAGTTAAATTCCCTGTTAAAATGGTCATGCAGGAATATACGCTTGCATTATTCATATTAGGGTAACTGTTTGGTTTGCTAGTTGTTAGATTCTTTGCATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGACAAGGCTGGAGTGCAATGGCGCTATCTCGGCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAATACGCCACCAAGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAGTCTCAGGTGATCAGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTAATCCCCCACCCTTTT G . . ALLELEID=416958;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47441472_47447476del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47444603 90609 A C . . AF_TGP=0.60124;ALLELEID=96084;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47444603A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-945A>C;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7607312 2 47444970 90606 AGGTTTCGCCTTGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCTGCCCACCTCAGCCTCCGAAAGTGCTGGGATTATAGGCATGAGCCATCATGTCCGGCCTCCCCATCATGTACCCTTAAATACCATCAAGCACAGTTCCATTGTGTAAAAACTTGGCTTGATTTAACCTGTTAATTGGAACACTGTCATTAATGGAAATTAGGAATATGAGGTAAGCTAGAGGTTTTATTTTAATGACTTTGGGTTATTAAATCTATAAGAAATGAAATTCATTTAGTCATAATTAATGTCATGTTTCTGCATCTATATTACTTGTTGGGTTTACAGACGAGGTAGTGTATTATTAGTGGGAAGCTTTGAGTGCTACATCATCTCCCTTTCTATAAAATAAATTGAGTACGAAACAATTTGAATTAAAACACCTGAGTAAATAGTAACTTTGGAGACCTGCTGTACTATTTGTACCTTTTGGATCAAATGATGCTTGTTTATCTCAGTCAAAATTTTATGATTTGTATTCTGTAAAATGAGATCTTTTTATTTGTTTGTTTTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGGTATGCAATATACTTTTTAATTTAAGCAGTAGTTATTTTTAAAAAGCAAAGGCCACTTTAAGAAAGTTTGTAGATTTTTCTTTTTAGTATCTAATTGTAGCACCTTTGTGGACAGTGGATGTAATATTAAGTGACAGATGGGAAAAGGATTTTTAAAAAAATAGCAACTGTTTCAGTGGATGAAATAAAGATTATTAGCAGAGAAAATGAATATTGGGCATAACTGTCCTGGTGAAAGACAATCTCATAAATGAACAATTTCATAATTTCGTAAATGCAACTGCATTTTATTTTCAAAGAGAAGGAAAATTATAGTCACTGGAAACGGAAAGAGAAGTTAGAGGTAAACATAGGACACACAAGAAAACTTTCATTTTGTTTATTTTCTTGTTTTTCTTTTGAGACAGGGTTTCCCTCTGTTACCCAGGCTTAAGTGCAGTGACACTATCATAGTTCACTAACCCCTCAAATTCCTGGGTTCAAGTAATCCTCCTGCCTTAGCCTTAGTAGGTGTAAATACAGGTGTGTACCACCATGCCTGGCGAATTTTAAAAAAACTTTTTTATAGAGATGAGCTCTCGCCGTGTTGCCCAAGCTGGTCCTAAAACGCTGGCCTCAAGCTATCCTCCGGCCTCAGTCTTAGCCTCCCAAAATGCTGGGGTTTCAGTAGAAGCCACCATGCCGGGCCACTTCTGTTTCTTTTCCATGTAGAGTTCTTTGCAGGAGGAGGTTAGAATAGGTGTGCATCTCCTAAATAGTTGTCGAATATAACTAAAAAGTTAACCAGGACTCTAAATACTATTTACTTCTAAAATTTGTTAATTGGGAACATTTAGGGTTTAACTGATCTATATCTTATGTCTTTAACAATTTTGAATGATAATTATATGTAAAGTAAGAACAGTTTGTGAAATAGTTGAAAATATCCTTACATGAAAGTGAATTTTAAAGCACAGTTTATGTAATGTTAATGTTTTGTTTTGTATCTGTTAAAAATTTGTTTATATGAACAAGTTTACAGGTTTACTGTGGTGAGCCCGTTGAATATAGTGGGTTTTTTTTGTTTGTTTTGTTTTTGTTTTTGAGATGAAGTCTCACTCTTGTCCCGAGGCTGATGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTATAGGCACCTGTCACCAAACCCGGCTAAGTTTTGTATTTTTGGTAGAGATGGGATCTCAGCATGTTGGCCAGGCTGGACTCAGGTGATCCGTCTGCCTCGGCCTCCCAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCGAGCCTGAATATAGTGTTTTTAAGTTGCAGGACTTTAAAAATAATATTTTGAAATTTTTCTAAGTTAAATTCCCTGTTAAAATGGTCATGCAGGAATATACGCTTGCATTATTCATATTAGGGTAACTGTTTGGTTTGCTAGTTGTTAGATTCTTTGCATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGACAAGGCTGGAGTGCAATGGCGCTATCTCGGCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAATACGCCACCAAGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAGTCTCAGGTGATCAGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTAATCCCCCACCCTTTTAAAAAAATGAGACAGAGTTTTATTCTGTCACCCAGGGTGGAGTGCAGTGGTGCGATCATGGTTCACCGCAGCCTTGAATCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGTTGGAACCATAGATGTGCATCACCACACCTGGCTGATTTTTAAATTATTTGTAGAGATGAGGTCTTGCTTGTTGTCTAGGCTGGTCTTAAACTTCTGGGCTTCAGCAGTCCTCCTGCCTCAGCCTCCCAGAGTGCTGAGATGATAGACATGGGCCACTGCCCCTGGCCGCATTTTTCTTTTCTTTTCCTTTCTTTTTTTTTTTTTTTTTTTGAAACGGAGTTTTGCCATTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCCATTCTTCTGCCTCAGCCTTCCAGTTATCTGGGATTACAGTCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAG A . . ALLELEID=96081;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47444977_47447984del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-572_1386+2326del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47445336 90603 T A . . AF_TGP=0.47883;ALLELEID=96078;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47445336T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-212T>A;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1981928 2 47445430 90599 G A . . AF_TGP=0.79473;ALLELEID=96074;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47445430G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-118G>A;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1981929 2 47445534 90600 C G . . ALLELEID=96075;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445534C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-14C>G;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607951 2 47445546 90604 A C . . ALLELEID=96079;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445546A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-2A>C;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607949 2 47445546 90605 A G . . ALLELEID=96080;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47445546A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-2A>G;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607949 2 47445547 90601 G A . . ALLELEID=96076;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445547G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-1G>A;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607948 2 47445547 90602 G C . . ALLELEID=96077;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47445547G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-1G>C;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607948 2 47445556 90616 C T . . ALLELEID=96091;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47445556C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1285C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751693 2 47445557 90617 A AG . . ALLELEID=96092;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445558dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1287dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751626 2 47445559 90618 A T . . ALLELEID=96093;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer;CLNHGVS=NC_000002.12:g.47445559A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1288A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751646 2 47445563 90620 T A . . ALLELEID=96095;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445563T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1292T>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751315 2 47445586 90624 CCT C . . ALLELEID=96099;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47445587CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1318_1319del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779083 2 47445590 90625 T C . . ALLELEID=96100;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47445590T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1319T>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779084 2 47445591 90629 T TA . . ALLELEID=96104;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47445592dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1321dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750807 2 47445611 90631 T TGG . . ALLELEID=96106;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445611_47445612insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1340_1341insGG;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607696 2 47445615 455483 C T . . ALLELEID=451120;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47445615C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1010360604 2 47445615 90633 CAAGT C . . ALLELEID=96108;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445616_47445619del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1345_1348del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607955 2 47445616 90632 A T . . ALLELEID=96107;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47445616A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1345A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749920 2 47445622 90635 CAG C . . ALLELEID=96110;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47445623_47445624del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1352_1353del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750957 2 47445625 90636 G T . . ALLELEID=96111;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47445625G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1354G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=267607954 2 47445629 90638 T A . . ALLELEID=96113;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445629T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1358T>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750697 2 47445644 90640 T G . . ALLELEID=96115;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47445644T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1373T>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750521 2 47445658 90641 G A . . ALLELEID=96116;CLNDISDB=Human_Phenotype_Ontology:HP:0006716,MedGen:C4024989|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Hereditary_nonpolyposis_colorectal_carcinoma|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47445658G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1386+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607957 2 47445658 90642 G C . . ALLELEID=96117;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47445658G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1386+1G>C;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607957 2 47445658 90643 G T . . ALLELEID=96118;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47445658G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1386+1G>T;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607957 2 47462781 90646 G A . . AF_TGP=0.03255;ALLELEID=96121;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47462781G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1387-250G>A;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=6741393 2 47463022 90648 T A . . ALLELEID=96123;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47463022T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1387-9T>A;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587779087 2 47463023 36565 G T . . AF_ESP=0.00161;AF_EXAC=0.00194;AF_TGP=0.00100;ALLELEID=45227;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47463023G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1387-8G>T|Mayo_Clinic_Laboratories,Mayo_Clinic:243|Illumina_Laboratory_Services,Illumina:490327|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3138;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=187525243 2 47463030 90645 G T . . ALLELEID=96120;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463030G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1387-1G>T;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607956 2 47463032 90655 TG T . . ALLELEID=96130;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463034del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1390del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779088 2 47463043 90656 G T . . ALLELEID=96131;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47463043G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1399G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779089 2 47463051 90657 TG T . . ALLELEID=96132;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47463052del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1408del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750384 2 47463062 90659 C G . . ALLELEID=96134;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463062C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1418C>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751403 2 47463074 90663 A ATC . . ALLELEID=96138;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463075TC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1433_1434dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779091 2 47463086 90666 T TA . . ALLELEID=96141;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47463088dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1444dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750068 2 47463086 90665 TA T . . ALLELEID=96140;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463088del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1444del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750068 2 47463086 90667 TAAGAG T . . ALLELEID=96142;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463089_47463093del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1445_1449del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607961 2 47463087 90669 AAG A . . ALLELEID=96144;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47463089GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1447_1448del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750161 2 47463088 90664 A T . . ALLELEID=96139;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463088A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1444A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779092 2 47463091 90668 G T . . ALLELEID=96143;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47463091G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1447G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749947 2 47463095 90670 TAATG T . . ALLELEID=96145;CLNDISDB=Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102,SNOMED_CT:363406005|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Malignant_tumor_of_colon|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47463097ATGA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4829208|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1457_1460del|OMIM_Allelic_Variant:609309.0019;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1114167806 2 47463099 90671 GA G . . ALLELEID=96146;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463101del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1457del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750986 2 47463120 90676 GC CT . . ALLELEID=96151;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463120_47463121delinsCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1476_1477delinsCT;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750583 2 47463121 90677 C T . . ALLELEID=96152;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47463121C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1477C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842071;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750936 2 47463131 90678 T A . . ALLELEID=96153;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463131T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1487T>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779093 2 47463132 90679 A G . . AF_ESP=0.00008;AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=96154;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47463132A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1488A>G|Illumina_Laboratory_Services,Illumina:232268|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2777714;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=267607960 2 47463137 90680 G GT . . ALLELEID=96155;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463138dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1494dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750362 2 47463140 90681 CA C . . ALLELEID=96156;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47463141del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1497del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749963 2 47463142 90683 G GC . . ALLELEID=96158;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN221562;CLNDN=Lynch_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000002.12:g.47463144dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1500dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779094 2 47463154 90685 G C . . ALLELEID=96160;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47463154G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1510G>C_1;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751600 2 47465142 90687 C T . . AF_TGP=0.55671;ALLELEID=96162;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47465142C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1511-1516C>T;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3771281 2 47466567 90689 G T . . AF_TGP=0.48303;ALLELEID=96164;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47466567G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1511-91G>T|Mayo_Clinic_Laboratories,Mayo_Clinic:246;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3732182 2 47466649 36566 A T . . AF_ESP=0.09027;AF_EXAC=0.08855;AF_TGP=0.04054;ALLELEID=45228;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47466649A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:24795|Mayo_Clinic_Laboratories,Mayo_Clinic:247|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3140|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1511-9A>T;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12998837 2 47466656 90688 A G . . AF_EXAC=0.00001;ALLELEID=96163;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47466656A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1511-2A>G;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607962 2 47466675 90693 C T . . ALLELEID=96168;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47466675C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1528C>T_2;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779097 2 47466696 90697 GCA G . . ALLELEID=96172;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47466697CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851853|Invitae:3922238|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1552_1553del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749930 2 47466699 90696 C T . . ALLELEID=96171;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47466699C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1552C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750780 2 47466713 90699 C G . . ALLELEID=96174;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47466713C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1566C>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750224 2 47466718 1759 G C . . ALLELEID=16798;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47466718G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:609309.0007|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844347|UniProtKB_(protein):P43246#VAR_004479|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1571G>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751207 2 47466721 90702 TA T . . ALLELEID=96177;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47466723del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1576del|Invitae:4829234;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750094 2 47466723 90703 AC A . . ALLELEID=96178;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47466725del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1578del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750738 2 47466732 90704 GA G . . ALLELEID=96179;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47466734del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1587del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750845 2 47466740 90706 A AG . . ALLELEID=96181;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47466741dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1594dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750104 2 47466749 90708 T A . . ALLELEID=96183;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47466749T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1602T>A;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=267607965 2 47466773 90710 AG A . . ALLELEID=96185;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47466774del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1627del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750675 2 47466783 90711 A AAG . . ALLELEID=96186;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47466785_47466786dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1638_1639dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750662 2 47466807 90717 A G . . ALLELEID=96192;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47466807A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854087|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1660A>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751656 2 47466807 90718 A T . . ALLELEID=96193;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47466807A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1660A>T;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751656 2 47466808 90724 G C . . ALLELEID=96199;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47466808G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1661G>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750597 2 47466809 90719 G A . . ALLELEID=96194;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47466809G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1661+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607969 2 47466809 90720 G T . . ALLELEID=96195;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47466809G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1661+1G>T;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=267607969 2 47466814 90722 C T . . ALLELEID=96197;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47466814C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1661+6C>T;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607973 2 47466820 36567 G A . . AF_ESP=0.37867;AF_EXAC=0.35015;AF_TGP=0.48343;ALLELEID=45229;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47466820G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:249|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1661+12G>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3143|Illumina_Laboratory_Services,Illumina:24792;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3732183 2 47466898 90723 T C . . AF_TGP=0.01957;ALLELEID=96198;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47466898T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:251|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1661+90T>C;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10183143 2 47470590 90729 ATCCACCCGCCTCAGCCTCCCAAAGTTCTGGGGTTACAGGCGTGAGCCACCACGCCCGGCTGTCTTCAATCTTAAATAAGGATTCCATTTAAATATTTTGTAAAAGGACACAGATCACAGTTTTACTCAGGGGAATATAATTGTTATAGCAGGAATTGTGCCATTGCGCTATTCCAAACAGTGTAAAAGAACATTAATAAATTGAATTCTAACTACATTTGTCCCTAAGGAGTTGTTCGTTTTCCACTTGTATTTCCATTTTAATTATCATTATTTGGATGTTTCATAGGATACTTTGGATATGTTTCACGTAGTACACATTGCTTCTAGTACACATTTTAATATTTTTAATAAAACTGTTATTTCGATTTGCAGCAAATTGACTTCTTTAAATGAAGAGTATACCAAAAATAAAACAGAATATGAAGAAGCCCAGGATGCCATTGTTAAAGAAATTGTCAATATTTCTTCAGGTAAACTTAATAGAACTAATAATGTTCTGAATGTCACCTGGCTTTTGGTAACAGAAGAAAAATCATGATATTTGAAGTGTGTTTTGTTATTTTCGCAAGCCATTACATTCTGACTATTTAATATGTTAGGTTTCCTATATAAAATAAGGCATGGTATGTTACAGTAGGACACATAACTGGAAGTTACTCTTGCACATAGAAACAAAAAATGGCAGAAAAGCACAAAACTTACTATAGTTGTAACAGGGAAAGGAAACACTAGGGCCTACAACGTACTAATGTCTTGGGTCATCTATGGGCTCATGAGGCTCTAGGTTATGGAAGTAAATACCACTGAAAAGCAAATATTAATTACACATGAGGCAAGCCTTTTTGAGTTCTGTATGTCATTTTGTAGATTTTGAGTTCATTCTAGTGGCACCATTTGAGATCATTTTCATGTAATTAAAGGAACACAGCAACCTGGCACTGTGTTATTGCCCTTAGAATGGAATGAATATATGTTTAGCACAAGGTAGGAAGTGATGCGTTAAGTTGGAAGGCTTTGCCGATCATGGTGTGTATGTTGACTAACCTTTATTGTGCCTTTAAAAAATATACTCAAGAACTACCTTAACCAAGTAATTAAAGTCAAGATTACCAGTTGTGGGACAAATGACATGTACTTCCTGGTGTGATATAGAAGGAAGGACACAGTATCACCTATATAGTATTCTTGACCAGAATATTTAACCTGATTTTAAACAAGAAGTAAAAATTCAAATAAATTTAGATTGTGGTGCATTCAAGGCCTGAACTTTAATAAATGTCCATGTCACGGCAGCAAAAAAGAAATCAACAGGTCTTAAAGAGACAGGGCAACCAAACGCAGTAGGCAGTAGTTGATTAGATCCCAATTTAGAGGTTGGAGTTGGGGAATAGCTATAGAGGACACTATTGGGGCGAATTGAGAAAGTTTAATATGAGACAATATGGTGTTAGTGTCAGATTTCTTGTGTGAAATGGTAGTGTTATGATTAGGAGAATGTCCTTGTTCTCAGGATATGCATGCTAAATTATTTAAGGACAAATATTTTTTTAAAAGGTTATGTGCATGAGTAATTCTATAAATTGTGTTGCTATTATGAATTGTCATGGTAAATCAAAAGGAAACATAAAACTCAAAAGGTTTTATTTTAATACACTTTATGTATTGAAATGAATGGAATTGATTTGTAAAGATTACATTTTTGCTTGTTGGTGTCAGATAACTGTGACGTAATAATCTTTTGCTGAATTATGTTTCTTAGGCTAGATTTCATTTTAAAGAACCCTGTAAATACCATTTATTTGAACTGTGGATCTTCCTTAAAAAATAATATTTATTAAGCACCTAGCAGGGTAAAGTTTTTAGATTTTAACATTTAAATTGAAGGTTTTATATTAGAAGTCAACCTGAATTTAAATGAAACTTCTTCTTGGTCTGATATTACATATTATGAGCTATTTTTATTTAAAAATGTAATGGCGGCCAGACATGGTGATTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGCTGGGAGGATTGCTTAAGCCCAGAAGTTTGAGACCAGCCTAGCCAACATAGGGGGACCCCAACTCTACAAAAAAATCCAAAAAATATTAGCCGGCTGTGGTGGTACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTCGAGGGTGTGGTGAGCCATAATTATGCTACTGTACTTCAGCCTGGGCGACAGAGCAAGACTCCCATCTCAAAAAGTGTAATGGATCACTTTAATAATTTTCTATCATACAATTAAGTCATAAAAGGTCATGCTATTAAGAGCCAGTTATGTGACATGCCAAGTATAGACTCTTAATTAAGATGCTTTGGTTTGCTTTTTATTTATTTATTTATTTTTCAGATGGGGTCTTACCATGTTGCCCAGGCTTTAGTGCAGTGATGCGATCATGACTCACTGCAGCCTCAACCTCCTAGGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACATGTTGAAACCCTGTCTTTACTAAAAGTACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATACTGAAACAGAGGAAGATAATTAGGTCTGCTTGGCCATTGTTAAGTTGATTTTTATTTTCAAAACATTTGATCACTGTTGTGGGGAACAAGGGAATAAAAAATAAGTTAAATTTCCAGCCCCTAGATTAAACTAATAATTTTTGGTTTTCCTAGAATTAAATGCTTTTATCTTGAATGTTCTGTGAAGCTTTTGACATGATTGATAGCTGTATGATAGTCTGAATGACATGTGGGTCATGCACCAGCCCCTCCAACCTGTTAACATTTAGAATCTATTCAGAAAAATTTAAGCATTGTTAATTTCCTTTGTTTTTTGTCTAGCATGTGTCAGATTTTTTTAAATGTATTTATTAATAGCTTTTAATGTTAATACTCTAGAACAGTAGAATCTTGAAAATGTTTTAAGTGACAATTAGAGATTTAAATTTATGCTGACATCCTCTGCATGTGATACTGATGAGGAAAGAAAGCCAAACTGTCTTACGGTCAGTTCGTACAATATACCAGGCCTTGATGGTCACATTTCAACTTGCTACCTTTTTGCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTATTCACAATGGGAAAGGATGTAGCAACACATTTTAACCCTATGTTGAGTTTTAGGTGGGTTCCTTTGAAATTTTGTTAAGGCTAACTTTTGTTAATTTTTTTAAAAAAGTGTAAATTAGGAAATGGGTTTTGAATTCCCAAATGGGGGGATTAAATGTATTTTTACGGCTTATATCTGTTTATTATTCAGTATTCCTGTGTACATTTTCTGTTTTTATTTTTATACAGGCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACGTATACTTTGAAAAAGATAAACAGATGTTCCACATCATTACTGGTAAAAAACCTGGTTTTTGGGCTTTGTGGGGGTAACGTTTTGTTTTTTTTTTTTTTTTTTTAATCTTGGAGTAGAAATATATTTAAAATTGATGGAGAAAATTCCCAGTTCTTAACATTAGAAAGGGAATATATTATTCTTACCAGTTAGTAATCTATTCACATTTGGTTTAGAGGGAAGATTTAGAAGGTGAGATAAAAGCTTGTGAGAGAATAGTGTATTCATGTGAAACTTCTTCCATGGGTTCAGAGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATTTTTAAAATTGTCTCTTTAAGTAGACAATTTATAAGCTACTGGTACGAGTTCACCTTATAAATCTCCACTACCATGTTTTTGCTTGGACTGTTCACACTTCCTGGAATGGTCCTTCTTGCCGTTTATCCAACTTCTTTCTAATTTTTAAGTCCCTAATGATGGGAATTCTATTTCTGTAGTGATTTTTCTGGTCATACGACCGTAAGGTCATGGGTGTTTTTCTCTGAATTCCTCTTGAGATGCCTGTAACTTGAACCACGTTTTTATTCTAGACATTACTGAAATGTTTTGTCTTTATTTCACTTTTTAGGAGCTTCCTTGAAGGTAGGGACTATACCTTCTATTTCTTGGTATCTTTTTCTTTCTTTTTTTAAAAGTTTTTTAGAGAGACAGGGTCTCACTCTTTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAGGTGATCTTCCTGCCTTGGCTTCCCAGAGTGCTGGGATTACAGGCATGAACCACCGTGATCCTCCTTATTTCTTAGTATCTTCTAAAGAACATTAAATATAGTAGGTGCCTAGTAAATTATGTATTGATTTAACTTCTTTGAGGTTCTGTTGTTTGTGAAGAATTATAAAAGCAATACAAATGTTTGTATAGTAATTAAGCAACAGGTTAATATTCATGACTTAAAAGATTAAAGAAATAAGCAAAACATGTTAGCTGGCAACTCACAGAAAAAGAATTAAATTGCCAATGAGCACACGAGCACATGAAAAATTAGCAAAAGTTTCACCCCTTTACATATATTTGGTTAAAATTGAGAAAAGAATAGTAATAGATGGTATTGGTAGGACTGTGGCAGGCACACAATTTACATGACCACCAAAAGTGTATGCAGGTATCCATGTCACCACACCCTGGTCTCATCTTCATTCAGTTTTATTTATTTTTTTTAATCTCGGCCTATTTGATTGGCACGAAATGAATGATAGCTGCCTTATTTGGAATTCCTTTGATTACTACTAGTGTGCTTGATAATGTAAAACAATATTCAAAATCTGTTTTTCCTTTCATCCGTTGTTTGTTCATGTTCATGACCTTTTTTTTTTTTTCCTATTCTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCACACAAAGGTGTGTGCTACCATACCTGGCTAGTTTTTAATTTTTTTTTTTTTTTTTTTTTTTAGAGGCAAGGTCTCACTATGTTGCTCAGGCTGGTCTGGGCTCAAGTGATCCTCCCACCTCCGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCATCATGCCTGGCCCTTGCCCATTTTTCTATTGAAGTTTTAGTGCTTTTTATTGACTTTGTTTATATATTAAGATAATCCATTATGTTTGTGGCATATCCTTCCCAATGTATTGTCTTAATTTTGTTTTTGTATGTGTATGTTACCACATTTTATGTGATGGGAAATTTCATGTAATTATGTGCTTCAGGTCTGCAACCAAAGATTCATTAATAATCATAGATGAATTGGGAAGAGGAACTTCTACCTACGATGGATTTGGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGATTGGTGCTTTTTGCATGTTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCAGATACCAACTGTTAATAATCTACATGTCACAGCACTCACCACTGAAGAGACCTTAACTATGCTTTATCAGGTGAAGAAAGGTATGTACTATTGGAGTACTCTAAATTCAGAACTTGGTAATGGGAAACTTACTACCCTTGAAATCATCAGTAATTGCCTTATTCTAAGTTAGTATAAATTATTGATGTTGTTATAGAACCCATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCT A . . ALLELEID=96204;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47470591_47478986del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1662-374_2458+467del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47470947 90726 T C . . ALLELEID=96201;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000002.12:g.47470947T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1662-18T>C;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=376235435 2 47470956 90730 G A . . AF_ESP=0.00562;AF_TGP=0.00679;ALLELEID=96205;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47470956G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1662-9G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:252|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH2-A7|Illumina_Laboratory_Services,Illumina:760959;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=17218356 2 47470963 90728 A G . . ALLELEID=96203;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47470963A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1662-2A>G;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607971 2 47470964 90727 G A . . ALLELEID=96202;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030840,MedGen:C5436806,OMIM:619096|MedGen:C0009405;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_2|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47470964G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1662-1G>A|OMIM_Allelic_Variant:609309.0014;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607970 2 47470965 90736 CA C . . ALLELEID=96211;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47470968del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1665del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751120 2 47470968 90739 AT A . . ALLELEID=96214;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47470970del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1667del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=267607694 2 47470969 36568 T C . . AF_ESP=0.00578;AF_EXAC=0.00452;AF_TGP=0.00220;ALLELEID=45230;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47470969T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3145|Illumina_Laboratory_Services,Illumina:24808|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1666T>C|Mayo_Clinic_Laboratories,Mayo_Clinic:253;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61756466 2 47470970 427602 T G . . ALLELEID=416959;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47470970T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779101 2 47470970 90738 T TA . . ALLELEID=96213;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47470970_47470971insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1667_1668insA;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553367587 2 47470976 90743 CT C . . ALLELEID=96218;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47470979del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1676del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750633 2 47470983 90744 T C . . AF_ESP=0.00031;AF_EXAC=0.00035;ALLELEID=96219;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47470983T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1680T>C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2602236|Illumina_Laboratory_Services,Illumina:281720;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200056411 2 47470984 90746 GA G . . ALLELEID=96221;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47470986del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1683del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750406 2 47470989 90748 G GT . . ALLELEID=96223;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47470990dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1687dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779103 2 47470993 90750 A G . . AF_EXAC=0.00018;AF_TGP=0.00060;ALLELEID=96225;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47470993A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH2-A8|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830313|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1690A>G|UniProtKB_(protein):P43246#VAR_043769;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55778204 2 47470995 90752 CAA C . . ALLELEID=96227;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47470999_47471000del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1696_1697del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750737 2 47470996 90751 A T . . ALLELEID=96226;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47470996A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1693A>T_2;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779104 2 47471001 90756 T TA . . ALLELEID=96231;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47471005dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1702dup|Invitae:4829274;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779105 2 47471001 90755 TAAAAC T . . ALLELEID=96230;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47471003_47471007del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1700_1704del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750474 2 47471002 90753 A T . . ALLELEID=96228;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471002A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1699A>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751149 2 47471006 90757 C CAG . . ALLELEID=96232;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471008_47471009dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1705_1706dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750393 2 47471006 36569 CAG C . . ALLELEID=45231;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47471008_47471009del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1254579|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1705_1706del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750393 2 47471008 90758 G GT . . ALLELEID=96233;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471008_47471009insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1705_1706insT;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779106 2 47471019 90759 AG A . . ALLELEID=96234;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471020del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1717del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607974 2 47471020 90761 GC G . . ALLELEID=96236;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471023del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1720del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751299 2 47471023 90760 C T . . ALLELEID=96235;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471023C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1720C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751298 2 47471033 41644 T C . . AF_ESP=0.00023;AF_EXAC=0.00013;ALLELEID=50083;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47471033T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:623507|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1730T>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63749910 2 47471040 36570 A G . . AF_ESP=0.00146;AF_EXAC=0.00193;AF_TGP=0.00100;ALLELEID=45232;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47471040A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1737A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3147|Mayo_Clinic_Laboratories,Mayo_Clinic:254|Illumina_Laboratory_Services,Illumina:490331;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61756467 2 47471041 90763 G T . . ALLELEID=96238;CLNDISDB=.|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Neoplasm_of_ovary|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47471041G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1738G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63751411 2 47471058 90765 T C . . ALLELEID=96240;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471058T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1755T>C;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63750112 2 47471062 90771 G C . . ALLELEID=96246;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47471062G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1759G>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751140 2 47471063 90766 G A . . ALLELEID=96241;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47471063G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1759+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779108 2 47471064 90767 T A . . ALLELEID=96242;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47471064T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1759+2T>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607976 2 47471064 90768 T C . . ALLELEID=96243;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47471064T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1759+2T>C;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607976 2 47471366 90769 TGAGGCTCTAGGTTATGGAAGTAAATACCACTGAAAAGCAAATATTAATTACACATGAGGCAAGCCTTTTTGAGTTCTGTATGTCATTTTGTAGATTTTGAGTTCATTCTAGTGGCACCATTTGAGATCATTTTCATGTAATTAAAGGAACACAGCAACCTGGCACTGTGTTATTGCCCTTAGAATGGAATGAATATATGTTTAGCACAAGGTAGGAAGTGATGCGTTAAGTTGGAAGGCTTTGCCGATCATGGTGTGTATGTTGACTAACCTTTATTGTGCCTTTAAAAAATATACTCAAGAACTACCTTAACCAAGTAATTAAAGTCAAGATTACCAGTTGTGGGACAAATGACATGTACTTCCTGGTGTGATATAGAAGGAAGGACACAGTATCACCTATATAGTATTCTTGACCAGAATATTTAACCTGATTTTAAACAAGAAGTAAAAATTCAAATAAATTTAGATTGTGGTGCATTCAAGGCCTGAACTTTAATAAATGTCCATGTCACGGCAGCAAAAAAGAAATCAACAGGTCTTAAAGAGACAGGGCAACCAAACGCAGTAGGCAGTAGTTGATTAGATCCCAATTTAGAGGTTGGAGTTGGGGAATAGCTATAGAGGACACTATTGGGGCGAATTGAGAAAGTTTAATATGAGACAATATGGTGTTAGTGTCAGATTTCTTGTGTGAAATGGTAGTGTTATGATTAGGAGAATGTCCTTGTTCTCAGGATATGCATGCTAAATTATTTAAGGACAAATATTTTTTTAAAAGGTTATGTGCATGAGTAATTCTATAAATTGTGTTGCTATTATGAATTGTCATGGTAAATCAAAAGGAAACATAAAACTCAAAAGGTTTTATTTTAATACACTTTATGTATTGAAATGAATGGAATTGATTTGTAAAGATTACATTTTTGCTTGTTGGTGTCAGATAACTGTGACGTAATAATCTTTTGCTGAATTATGTTTCTTAGGCTAGATTTCATTTTAAAGAACCCTGTAAATACCATTTATTTGAACTGTGGATCTTCCTTAAAAAATAATATTTATTAAGCACCTAGCAGGGTAAAGTTTTTAGATTTTAACATTTAAATTGAAGGTTTTATATTAGAAGTCAACCTGAATTTAAATGAAACTTCTTCTTGGTCTGATATTACATATTATGAGCTATTTTTATTTAAAAATGTAATGGCGGCCAGACATGGTGATTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGCTGGGAGGATTGCTTAAGCCCAGAAGTTTGAGACCAGCCTAGCCAACATAGGGGGACCCCAACTCTACAAAAAAATCCAAAAAATATTAGCCGGCTGTGGTGGTACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTCGAGGGTGTGGTGAGCCATAATTATGCTACTGTACTTCAGCCTGGGCGACAGAGCAAGACTCCCATCTCAAAAAGTGTAATGGATCACTTTAATAATTTTCTATCATACAATTAAGTCATAAAAGGTCATGCTATTAAGAGCCAGTTATGTGACATGCCAAGTATAGACTCTTAATTAAGATGCTTTGGTTTGCTTTTTATTTATTTATTTATTTTTCAGATGGGGTCTTACCATGTTGCCCAGGCTTTAGTGCAGTGATGCGATCATGACTCACTGCAGCCTCAACCTCCTAGGTTCAAGGGATTCTCCCCACTTAGCCTCCCAAGTAGCTTGGGACTACTACATGTAGTAGTGCCACCACACCTGGTTAATTTTTTTTTAATTATCTTTTGTGGAGATGAAGTCTCACTCTGTTGCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACATGTTGAAACCCTGTCTTTACTAAAAGTACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATACTGAAACAGAGGAAGATAATTAGGTCTGCTTGGCCATTGTTAAGTTGATTTTTATTTTCAAAACATTTGATCACTGTTGTGGGGAACAAGGGAATAAAAAATAAGTTAAATTTCCAGCCCCTAGATTAAACTAATAATTTTTGGTTTTCCTAGAATTAAATGCTTTTATCTTGAATGTTCTGTGAAGCTTTTGACATGATTGATAGCTGTATGATAGTCTGAATGACATGTGGGTCATGCACCAGCCCCTCCAACCTGTTAACATTTAGAATCTATTCAGAAAAATTTAAGCATTGTTAATTTCCTTTGTTTTTTGTCTAGCATGTGTCAGATTTTTTTAAATGTATTTATTAATAGCTTTTAATGTTAATACTCTAGAACAGTAGAATCTTGAAAATGTTTTAAGTGACAATTAGAGATTTAAATTTATGCTGACATCCTCTGCATGTGATACTGATGAGGAAAGAAAGCCAAACTGTCTTACGGTCAGTTCGTACAATATACCAGGCCTTGATGGTCACATTTCAACTTGCTACCTTTTTGCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTATTCACAATGGGAAAGGATGTAGCAACACATTTTAACCCTATGTTGAGTTTTAGGTGGGTTCCTTTGAAATTTTGTTAAGGCTAACTTTTGTTAATTTTTTTAAAAAAGTGTAAATTAGGAAATGGGTTTTGAATTCCCAAATGGGGGGATTAAATGTATTTTTACGGCTTATATCTGTTTATTATTCAGTATTCCTGTGTACATTTTCTGTTTTTATTTTTATACAGGCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACGTATACTTTGAAAAAGATAAACAGATGTTCCACATCATTACTGGTAAAAAACCTGGTTTTTGGGCTTTGTGGGGGTAACGTTTTGTTTTTTTTTTTTTTTTTTTAATCTTGGAGTAGAAATATATTTAAAATTGATGGAGAAAATTCCCAGTTCTTAACATTAGAAAGGGAATATATTATTCTTACCAGTTAGTAATCTATTCACATTTGGTTTAGAGGGAAGATTTAGAAGGTGAGATAAAAGCTTGTGAGAGAATAGTGTATTCATGTGAAACTTCTTCCATGGGTTCAGAGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTA T . . ALLELEID=96244;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471367_47476333del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1759+305_2006-34del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47471563 90770 A G . . AF_TGP=0.17512;ALLELEID=96245;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47471563A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1759+501A>G;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=17036614 2 47474663 90774 TACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTATTCACAATGGGAAAGGATGTAGCAACACATTTTAACCCTATGTTGAGTTTTAGGTGGGTTCCTTTGAAATTTTGTTAAGGCTAACTTTTGTTAATTTTTTTAAAAAAGTGTAAATTAGGAAATGGGTTTTGAATTCCCAAATGGGGGGATTAAATGTATTTTTACGGCTTATATCTGTTTATTATTCAGTATTCCTGTGTACATTTTCTGTTTTTATTTTTATACAGGCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACGTATACTTTGAAAAAGATAAACAGATGTTCCACATCATTACTGGTAAAAAACCTGGTTTTTGGGCTTTGTGGGGGTAACGTTTTGTTTTTTTTTTTTTTTTTTTAATCTTGGAGTAGAAATATATTTAAAATTGATGGAGAAAATTCCCAGTTCTTAACATTAGAAAGGGAATATATTATTCTTACCAGTTAGTAATCTATTCACATTTGGTTTAGAGGGAAGATTTAGAAGGTGAGATAAAAGCTTGTGAGAGAATAGTGTATTCATGTGAAACTTCTTCCATGGGTTCAGAGCATTTAGAAACAAACATCCCTTCACACTCAAAGCTTACCTTTGAGCCAGTCCTCCAATAGTGAGGTCTTTGAAGGTCAGGCCAAATTGGCTGTGGGAGGACCTCAGGTTAGGATAGGAATTATTTTAAGACATGGCACTATATTCATGTGAAACTCGCAAAAACTAGCCTTGCATATAGGCTCATGTATCATGTCTCAGCTGAGATGTTTGAGAGATCTTAACTAGATTCTAGAAAACAAAAAAGGAAGTAGTTTTGGGGCAAATATATTTGGGAAACAGTTTATTGTATTTCCTTTCCCCAAATGGATTTTCAAGTTCTTCATATAATCTAACCCCAACAAATAAATTGCCTGTTTTTCAAAAGAAAGATCATGTCTTCAGGTTTTTGTGTGGGGTTTAAATGATTCGAAAGATTTGACCATACTGATACATTCACTAGTAACCTTAGTTACTAATGAGTAATGGTTTTGAGTTAATCAGTTAGGCCTGAACTACTTTTCTGGAAGTTAGTAAATTATCTCACAGGCAGCCCTGTGAGCCATGGGAAAATGTGTATATGGTCTTTCTAGGCCACAGTCAAATTACAGGTATATTTGTCATGGCTTCTCTTGATGAAAGGCCCAGTATCGGTTTGTCTGAAGATATATAATAGCATTGCTTTTGGGGGTAATATGGGCAGTAACTCTGTCCACATCTTTGGGCAGGCTGTGGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATTTTTAAAATTGTCTCTTTAAGTAGACAATTTATAAGCTACTGGTACGAGTTCACCTTATAAATCTCCACTACCATGTTTTTGCTTGGACTGTTCACACTTCCTGGAATGGTCCTTCTTGCCGTTTATCCAACTTCTTTCTAATTTTTAAGTCCCTAATGATGGGAATTCTATTTCTGTAGTGATTTTTCTGGTCATACGACCGTAAGGTCATGGGTGTTTTTCTCTGAATTCCTCTTGAGATGCCTGTAACTTGAACCACGTTTTTATTCTAGACATTACTGAAATGTTTTGTCTTTATTTCACTTTTTAGGAGCTTCCTTGAAGGTAGGGACTATACCTTCTATTTCTTGGTATCTTTTTCTTTCTTTTTTTAAAAGTTTTTTAGAGAGACAGGGTCTCACTCTTTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAGGTGATCTTCCTGCCTTGGCTTCCCAGAGTGCTGGGATTACAGGCATGAACCACCGTGATCCTCCTTATTTCTTAGTATCTTCTAAAGAACATTAAATATAGTAGGTGCCTAGTAAATTATGTATTGATTTAACTTCTTTGAGGTTCTGTTGTTTGTGAAGAATTATAAAAGCAATACAAATGTTTGTATAGTAATTAAGCAACAGGTTAATATTCATGACTTAAAAGATTAAAGAAATAAGCAAAACATGTTAGCTGGCAACTCACAGAAAAAGAATTAAATTGCCAATGAGCACACGAGCACATGAAAAATTAGCAAAAGTTTCACCCCTTTACATATATTTGGTTAAAATTGAGAAAAGAATAGTAATAGATGGTATTGGTAGGACTGTGGCAGGCACACAATTTACATGACCACCAAAAGTGTATGCAGGTATCCATGTCACCACACCCTGGTCTCATCTTCATTCAGTTTTATTTATTTTTTTTAATCTCGGCCTATTTGATTGGCACGAAATGAATGATAGCTGCCTTATTTGGAATTCCTTTGATTACTACTAGTGTGCTTGATAATGTAAAACAATATTCAAAATCTGTTTTTCCTTTCATCCGTTGTTTGTTCATGTTCATGACCTTTTTTTTTTTTTCCTATTCTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCACACAAAGGTGTGTGCTACCATACCTGGCTAGTTTTTAATTTTTTTTTTTTTTTTTTTTTTTAGAGGCAAGGTCTCACTATGTTGCTCAGGCTGGTCTGGGCTCAAGTGATCCTCCCACCTCCGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCATCATGCCTGGCCCTTGCCCATTTTTCTATTGAAGTTTTAGTGCTTTTTATTGACTTTGTTTATATATTAAGATAATCCATTATGTTTGTGGCATATCCTTCCCAATGTATTGTCTTAATTTTGTTTTTGTATGTGTATGTTACCACATTTTATGTGATGGGAAATTTCATGTAATTATGTGCTTCAGGTCTGCAACCAAAGATTCATTAATAATCATAGATGAATTGGGAAGAGGAACTTCTACCTACGATGGATTTGGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGATTGGTGCTTTTTGCATGTTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCAGATACCAACTGTTAATAATCTACATGTCACAGCACTCACCACTGAAGAGACCTTAACTATGCTTTATCAGGTGAAGAAAGGTATGTACTATTGGAGTACTCTAAATTCAGAACTTGGTAATGGGAAACTTACTACCCTTGAAATCATCAGTAATTGCCTTATTCTAAGTTAGTATAAATTATTGATGTTGTTATAGAACCCATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGCTGTTATTGTTTAACAAAATCTTCATTATAATTAGCTTATTTTGTGTTTAAGAGTGTGTTATAGAAACAGGTTCATTTAAAGCTGGGGGTTCCAGAAATCTTGAAATAGTAGTTATCACATGCAGAGTGACTTATCTGTTGTTGTTTCATCCTTTCAGGAAAGTTTGTCATTCGTGGGCTTGGGATCTAGTCAGATCCCTGTATTGATGAGATTCACATGTTATAAGGCTTTCAAAGGTTTTAAAAATCATACTATAAGGATTGATTTCACTAGTCACCAGAATAACTTTTTCAGATAGCGCTCTGATTTTCCACGAACACGTTTTTCTGCATCAGTTGGTTGCACATGAGTGAGATAATCTTGGTTCTTTATCCTTTGTTATTTGTACTTCATTGGGAATCCTTTTGAGTTAGTATATTTGAGTCATTATTATTATTGCTGTAGAATTCAGGAACTTTTAGTAGATCTGGCAGCATAAAATTTTGCTTTTAAATCATTGTTTGTGTTTTGTATGCTATAGAAATGGGTTCAGAATATTTTTTAAAAGGCCAGATGAAGTGTGAAGATAGAAAAACTTCATCCTTCACTGTGAATGTTTAACAAACATTTGCTTCTACTTTATTTTTGTTTGCTTCCTTTAGTTGTGCAAAGTATTCAGTTCTAGAATGCATGAGATATATGACAAAGCCAAAAAATTCTTTATAGTTGATAAATAATTGTGGCAAAAACAGCTGTATAGTAACTTTGCAAGCATCATTTGATTAAATGCTTAAAAAGTCTTGACTCAGTTTTAACTATTTCCTGCAAATAATCAATATTTAATTAAAGCTACTCCAAATTAGTGACACTTTACGTGTCTGTCTTTCTCCCTCCCCTTCTCCCTTCTCCCTTCCCCCTTCTCCCATTCTCCCATTCTCCCTTCTCTCTTCTTCCTTTCCTCTTCCCTTCCCTTCCCCTTTCCCTTCCCCCTTCCCTCTTCTCTTCCCCTCCCCCTTCCCATCCCCCATCCCTTCCCTTCCCCCATCCCTTTCCTTTCCCCTTCCCTTCCCTCCTCTTCCTCCTTCCCTTCCCCCTTCCTCCTTCCCTTCCCCCTTCCTCCTTCCCTTTCCTCTTCCCTTTCCCCTTCCCTTCCCCCTTCCCTTCCCTCTTCCCTTCCCCTTCCCCTTTCCCCTCCCCCTCTCCTCCCCTCCCTTACCTTCCCATGAAATGAGAAAGCCTCAGAGATAGTGGCTTGATTAATTTTTCTTTAGATTAAGATATTTGTCTAAGCCTTTAAGGTTTATCTATTGAGCTTTTTTGTCTCCTATTTTTATTTTTCCTACTATGTTTGTCGAGGATAAAATACAGCACTGTGTGCCAAGTCATAATCACTTTTCATTTGAGACTTAATTAAAATGCCTTTATTTTAATGATATATTTGGCTAATGTATTTGAAGTAATCCGAAATTAAGTTTTCTAATGACAAGGTGAGAAGGATAAATTCCATTTACATAAATTGCTGTCTCTTCTCATGCTGTCCCCTCACGCTTCCCCAAATTTCTTATAGGTGTCTGTGATCAAAGTTTTGGGATTCATGTTGCAGAGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCTGCATGATCAATATTCGATTTCAAGTACCAAAGTAGGAGTAAAGGAATATTAACCTAGGTTTAAAATTAGTCATTTCACTAAAATTAGTTATTATGGACGATAGATGTCTAGGTATATCTTTGTTCATAAACGAATATATCAAGTTCAGTTATTAAATTACACATTAGGTAAGAAAAGGACAAAGAAATAAAAAAGCATGATTCATAATTCCTGCCCTCTATTTGTCTAGAATTTAGTTGGGAAGATAAGAATAACGAACGTGACACAGAGAATAAAGTGGCATATGACAAATATTTATTCAAGAAAGCTATATGTGGACGGGATGTTTCAGTTCTCATGGGAGAAGTGGATTTTATGGTGCCTTTGAGTAATGGGTCATATTTGGGCGTTCACACAGAAAGACCCAAGCATATGCCTAATTTTTTATTATTATTATTTTTTATTTATTTATTTATTTTTTAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGAGCAGGGGCGCGCGATCTCGGCTCACTGCAAACTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGGCTCCCGAGCAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCGTGTTAG T . . ALLELEID=96249;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47474664_47481709del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1760-361_2634+838del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47474913 90772 T TAGG . . ALLELEID=96247;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47474915_47474917dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1760-110_1760-108dup;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587779109 2 47474963 90775 G A . . AF_TGP=0.01338;ALLELEID=96250;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47474963G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1760-62G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:255;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=17218439 2 47475023 90779 AG A . . ALLELEID=96254;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1760del;GENEINFO=MSH2:4436;ORIGIN=1;RS=63750103 2 47475024 90773 G A . . ALLELEID=96248;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475024G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846126|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1760-1G>A;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=587779110 2 47475029 90780 T G . . ALLELEID=96255;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch-like_syndrome|Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475029T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1764T>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63750844 2 47475036 90781 C CA . . ALLELEID=96256;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475036_47475037insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1771_1772insA;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607977 2 47475041 90784 GCAGA G . . ALLELEID=96259;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475044_47475047del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1779_1782del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750113 2 47475042 90783 C T . . ALLELEID=96258;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475042C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1777C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63750200 2 47475046 90785 C CCT . . ALLELEID=96260;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475046_47475047insCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1781_1782insCT;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607691 2 47475050 90787 C CA . . ALLELEID=96262;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47475052dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1787dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779111 2 47475050 1757 CAAT C . . AF_EXAC=0.00001;ALLELEID=16796;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475051_47475053del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:609309.0005|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1786_1788del|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1787209;GENEINFO=MSH2:4436;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=63749831 2 47475052 90788 ATG A . . ALLELEID=96263;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475053_47475054del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1788_1789del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750495 2 47475066 1758 C T . . ALLELEID=16797;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Muir-Torré_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475066C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1801C>T|OMIM_Allelic_Variant:609309.0006;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750047 2 47475072 90790 G A . . ALLELEID=96265;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer;CLNHGVS=NC_000002.12:g.47475072G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1807G>A|UniProtKB_(protein):P43246#VAR_043772;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750657 2 47475073 90791 A G . . ALLELEID=96266;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475073A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1808A>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607985 2 47475073 90792 AT A . . ALLELEID=96267;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475074del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1809del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751129 2 47475091 90796 CT C . . ALLELEID=96271;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475092del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1827del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779112 2 47475100 90799 C G . . ALLELEID=96274;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475100C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:258|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1835C>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750493 2 47475116 90800 TC T . . ALLELEID=96275;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47475118del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1853del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607984 2 47475121 90803 A ATG . . ALLELEID=96278;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475123_47475124dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1858_1859dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750806 2 47475122 90802 T G . . ALLELEID=96277;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475122T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1857T>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750312 2 47475126 90804 C T . . ALLELEID=96279;CLNDISDB=.|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Breast_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475126C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1861C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63750508 2 47475130 1753 C T . . ALLELEID=16792;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475130C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_004482|OMIM_Allelic_Variant:609309.0001|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1865C>T;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28929483 2 47475150 90811 C T . . ALLELEID=96286;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475150C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1885C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750203 2 47475150 90813 CAAGG C . . ALLELEID=96288;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475154_47475157del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1889_1892del|Invitae:4829318;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750960 2 47475151 90812 A G . . AF_EXAC=0.00129;AF_TGP=0.00220;ALLELEID=96287;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47475151A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:639842|UniProtKB_(protein):P43246#VAR_043774|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1886A>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61756468 2 47475161 90814 T TA . . ALLELEID=96289;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475162dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1897dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779114 2 47475171 1764 G C . . AF_EXAC=0.00001;ALLELEID=16803;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475171G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:609309.0012|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1906G>C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2833929|Mayo_Clinic_Laboratories,Mayo_Clinic:261|UniProtKB_(protein):P43246#VAR_012944;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750875 2 47475174 90816 TC T . . ALLELEID=96291;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475176del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4678993|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1911del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750893 2 47475180 1756 C T . . ALLELEID=16795;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475180C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1915C>T|UniProtKB_(protein):P43246#VAR_004483|OMIM_Allelic_Variant:609309.0004|Mayo_Clinic_Laboratories,Mayo_Clinic:263;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28929484 2 47475185 90821 TTG T . . ALLELEID=96296;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475187GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1924_1925del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779117 2 47475220 90823 C A . . ALLELEID=96298;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475220C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1955C>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607983 2 47475228 127637 G A . . AF_EXAC=0.00014;AF_TGP=0.00020;ALLELEID=133094;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47475228G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=549467183 2 47475230 90824 A ATACT . . ALLELEID=96299;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475232_47475235dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1967_1970dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779118 2 47475233 90825 C G . . ALLELEID=96300;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475233C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1968C>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751317 2 47475243 90826 GAT G . . ALLELEID=96301;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475245_47475246del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1980_1981del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779119 2 47475244 427603 A G . . ALLELEID=416961;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475244A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1085308057 2 47475245 90827 TAAAC T . . ALLELEID=96302;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47475247_47475250del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1982_1985del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779120 2 47475247 90828 AAC A . . ALLELEID=96303;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475249_47475250del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1984_1985del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779121 2 47475249 90829 CAG C . . ALLELEID=96304;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47475251_47475252del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1986_1987del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779122 2 47475250 90830 AG A . . ALLELEID=96305;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475251del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1986del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749929 2 47475260 90831 CAT C . . ALLELEID=96306;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475261_47475262del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1996_1997del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751700 2 47475270 90844 G C . . ALLELEID=96319;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47475270G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2005G>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751668 2 47475270 90840 GGTAAAAAACCT G . . ALLELEID=96315;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475272_47475282del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2005+2_2005+12del;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779123 2 47475271 90835 G A . . ALLELEID=96310;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47475271G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS117441|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2005+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607986 2 47475271 90836 G C . . ALLELEID=96311;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475271G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2005+1G>C;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607986 2 47475271 90837 G T . . ALLELEID=96312;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475271G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2005+1G>T;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607986 2 47475271 90841 GT G . . ALLELEID=96316;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475272del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2005+2del;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779124 2 47475272 90839 T C . . ALLELEID=96314;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47475272T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2005+2T>C;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607987 2 47475272 90843 T TA . . ALLELEID=96318;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47475278dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2005+8dup|Invitae:389744;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607992 2 47476102 90846 A G . . AF_TGP=0.55192;ALLELEID=96321;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47476102A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006-265A>G;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2059520 2 47476361 36571 T C . . AF_ESP=0.07258;AF_EXAC=0.11546;AF_TGP=0.13199;ALLELEID=45233;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47476361T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006-6T>C|HGMD:CS951474|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3153|Mayo_Clinic_Laboratories,Mayo_Clinic:268|Illumina_Laboratory_Services,Illumina:24806|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_756;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2303428 2 47476365 90847 A G . . ALLELEID=96322;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer;CLNHGVS=NC_000002.12:g.47476365A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006-2A>G;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607991 2 47476366 90845 G C . . ALLELEID=96320;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47476366G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006-1G>C;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607988 2 47476367 90854 G T . . ALLELEID=96329;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47476367G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006G>T;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751640 2 47476367 90856 GC G . . ALLELEID=96331;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47476371del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2010del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751123 2 47476375 90859 AT A . . ALLELEID=96334;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476376del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2015del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751161 2 47476381 90860 G C . . ALLELEID=96335;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47476381G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2020G>C|UniProtKB_(protein):P43246#VAR_067288;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750234 2 47476381 90862 GGT G . . ALLELEID=96337;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476382_47476383del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2021_2022del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608000 2 47476382 90861 G A . . ALLELEID=96336;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47476382G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2021G>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607996 2 47476391 90865 CAT C . . ALLELEID=96340;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476392AT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2035_2036del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779129 2 47476399 36572 C T . . ALLELEID=45234;CLNDISDB=.|MONDO:MONDO:0002238,MedGen:C0153439,SNOMED_CT:363412000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Malignant_tumor_of_ascending_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47476399C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3154|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2038C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:269;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63749932 2 47476406 90867 CTG C . . ALLELEID=96342;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47476407_47476408del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2046_2047del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779131 2 47476408 90868 G A . . ALLELEID=96343;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47476408G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:270|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2047G>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607995 2 47476408 90870 G GGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCAT . . ALLELEID=96345;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476409_47476472dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2048_2111dup;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553369051 2 47476424 90874 T G . . ALLELEID=96349;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47476424T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2063T>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63749993 2 47476429 90877 C CA . . ALLELEID=96352;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476432dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2071dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749878 2 47476432 90879 ATTGGGTGT A . . ALLELEID=96354;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476435_47476442del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2074_2081del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779135 2 47476435 90878 G C . . ALLELEID=96353;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47476435G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_009250|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2074G>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750232 2 47476436 90880 G T . . ALLELEID=96355;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:CN517202;CLNDN=Lynch_syndrome_I|not_provided;CLNHGVS=NC_000002.12:g.47476436G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2075G>T;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751432 2 47476444 633496 G A . . ALLELEID=621925;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47476444G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=772491283 2 47476448 90881 C T . . ALLELEID=96356;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47476448C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_054519|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2087C>T;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607994 2 47476450 90882 T C . . ALLELEID=96357;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476450T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2089T>C|UniProtKB_(protein):P43246#VAR_009251;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750961 2 47476451 187518 G A . . ALLELEID=181980;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN221562;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000002.12:g.47476451G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750398 2 47476451 90883 G T . . ALLELEID=96358;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47476451G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2090G>T|UniProtKB_(protein):P43246#VAR_004486;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750398 2 47476452 90884 T A . . ALLELEID=96359;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47476452T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2091T>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750872 2 47476457 90885 C G . . ALLELEID=96360;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47476457C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2096C>G|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854577;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779136 2 47476473 1760 TG T . . ALLELEID=16799;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47476474del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2113del|OMIM_Allelic_Variant:609309.0008;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749811 2 47476492 90903 C T . . ALLELEID=96378;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47476492C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2131C>T|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1787165|Mayo_Clinic_Laboratories,Mayo_Clinic:274|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:10585;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=3;RS=63750636 2 47476495 90904 G GT . . ALLELEID=96379;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47476496dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2135dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751453 2 47476500 90905 G C . . ALLELEID=96380;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47476500G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2139G>C;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63750003 2 47476501 90908 G GC . . ALLELEID=96383;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476502dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2141dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750545 2 47476513 90909 C T . . ALLELEID=96384;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47476513C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2152C>T_2;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779139 2 47476515 90910 A G . . AF_ESP=0.00023;AF_EXAC=0.00017;AF_TGP=0.00020;ALLELEID=96385;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47476515A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2154A>G|Illumina_Laboratory_Services,Illumina:1335986;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63750810 2 47476519 90911 AAAGG A . . ALLELEID=96386;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476521_47476524del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2160_2163del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750722 2 47476527 90912 C CT . . ALLELEID=96387;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476528dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2167dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779140 2 47476552 90915 G T . . ALLELEID=96390;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476552G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2191G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749802 2 47476564 90919 AT A . . ALLELEID=96394;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47476565del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2204del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750572 2 47476572 90921 G A . . ALLELEID=96396;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47476572G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2210+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608002 2 47476572 90922 G C . . ALLELEID=96397;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476572G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2210+1G>C;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608002 2 47476681 90920 TAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATTTTTAAAATTGTCTCTTTAAGTAGACAATTTATAAGCTACTGGTACGAGTTCACCTTATAAATCTCCACTACCATGTTTTTGCTTGGACTGTTCACACTTCCTGGAATGGTCCTTCTTGCCGTTTATCCAACTTCTTTCTAATTTTTAAGTCCCTAATGATGGGAATTCTATTTCTGTAGTGATTTTTCTGGTCATACGACCGTAAGGTCATGGGTGTTTTTCTCTGAATTCCTCTTGAGATGCCTGTAACTTGAACCACGTTTTTATTCTAGACATTACTGAAATGTTTTGTCTTTATTTCACTTTTTAGGAGCTTCCTTGAAGGTAGGGACTATACCTTCTATTTCTTGGTATCTTTTTCTTTCTTTTTTTAAAAGTTTTTTAGAGAGACAGGGTCTCACTCTTTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAGGTGATCTTCCTGCCTTGGCTTCCCAGAGTGCTGGGATTACAGGCATGAACCACCGTGATCCTCCTTATTTCTTAGTATCTTCTAAAGAACATTAAATATAGTAGGTGCCTAGTAAATTATGTATTGATTTAACTTCTTTGAGGTTCTGTTGTTTGTGAAGAATTATAAAAGCAATACAAATGTTTGTATAGTAATTAAGCAACAGGTTAATATTCATGACTTAAAAGATTAAAGAAATAAGCAAAACATGTTAGCTGGCAACTCACAGAAAAAGAATTAAATTGCCAATGAGCACACGAGCACATGAAAAATTAGCAAAAGTTTCACCCCTTTACATATATTTGGTTAAAATTGAGAAAAGAATAGTAATAGATGGTATTGGTAGGACTGTGGCAGGCACACAATTTACATGACCACCAAAAGTGTATGCAGGTATCCATGTCACCACACCCTGGTCTCATCTTCATTCAGTTTTATTTATTTTTTTTAATCTCGGCCTATTTGATTGGCACGAAATGAATGATAGCTGCCTTATTTGGAATTCCTTTGATTACTACTAGTGTGCTTGATAATGTAAAACAATATTCAAAATCTGTTTTTCCTTTCATCCGTTGTTTGTTCATGTTCATGACCTTTTTTTTTTTTTCCTATTCTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCACACAAAGGTGTGTGCTACCATACCTGGCTAGTTTTTAATTTTTTTTTTTTTTTTTTTTTTTAGAGGCAAGGTCTCACTATGTTGCTCAGGCTGGTCTGGGCTCAAGTGATCCTCCCACCTCCGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCATCATGCCTGGCCCTTGCCCATTTTTCTATTGAAGTTTTAGTGCTTTTTATTGACTTTGTTTATATATTAAGATAATCCATTATGTTTGTGGCATATCCTTCCCAATGTATTGTCTTAATTTTGTTTTTGTATGTGTATGTTACCACATTTTATGTGATGGGAAATTTCATGTAATTATGTGCTTCAGGTCTGCAACCAAAGATTCATTAATAATCATAGATGAATTGGGAAGAGGAACTTCTACCTACGATGGATTTGGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGATTGGTGCTTTTTGCATGTTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCAGATACCAACTGTTAATAATCTACATGTCACAGCACTCACCACTGAAGAGACCTTAACTATGCTTTATCAGGTGAAGAAAGGTATGTACTATTGGAGTACTCTAAATTCAGAACTTGGTAATGGGAAACTTACTACCCTTGAAATCATCAGTAATTGCCTTATTCTAAGTTAGTATAAATTATTGATGTTGTTATAGAACCCATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGCTGTTATTGTTTAACAAAATCTTCATTATAATTAGCTTATTTTGTGTTTAAGAGTGTGTTATAGAAACAGGTTCATTTAAAGCTGGGGGTTCCAGAAATCTTGAAATAGTAGTTATCACATGCAGAGTGACTTATCTGTTGTTGTTTCATCCTTTCAGGAAAGTTTGTCATTCGTGGGCTTGGGATCTAGTCAGATCCCTGTATTGATGAGATTCACATGTTATAAGGCTTTCAAAGGTTTTAAAAATCATACTATAAGGATTGATTTCACTAGTCACCAGAATAACTTTTTCAGATAGCGCTCTGATTTTCCACGAACACGTTTTTCTGCATCAGTTGGTTGCACATGAGTGAGATAATCTTGGTTCTTTATCCTTTGTTATTTGTACTTCATTGGGAATCCTTTTGAGTTAGTATATTTGAGTCATTATTATTATTGCTGTAGAATTCAGGAACTTTTAGTAGATCTGGCAGCATAAAATTTTGCTTTTAAATCATTGTTTGTGTTTTGTATGCTATAGAAATGGGTTCAGAATATTTTTTAAAAGGCCAGATGAAGTGTGAAGATAGAAAAACTTCATCCTTCACTGTGAATGTTTAACAAACATTTGCTTCTACTTTATTTTTGTTTGCTTCCTTTAGTTGTGCAAAGTATTCAGTTCTAGAATGCATGAGATATATGACAAAGCCAAAAAATTCTTTATAGTTGATAAATAATTGTGGCAAAAACAGCTGTATAGTAACTTTGCAAGCATCATTTGATTAAATGCTTAAAAAGTCTTGACTCAGTTTTAACTATTTCCTGCAAATAATCAATATTTAATTAAAGCTACTCCAAATTAGTGACACTTTACGTGTCTGTCTTTCTCCCTCCCCTTCTCCCTTCTCCCTTCCCCCTTCTCCCATTCTCCCATTCTCCCTTCTCTCTTCTTCCTTTCCTCTTCCCTTCCCTTCCCCTTTCCCTTCCCCCTTCCCTCTTCTCTTCCCCTCCCCCTTCCCATCCCCCATCCCTTCCCTTCCCCCATCCCTTTCCTTTCCCCTTCCCTTCCCTCCTCTTCCTCCTTCCCTTCCCCCTTCCTCCTTCCCTTCCCCCTTCCTCCTTCCCTTTCCTCTTCCCTTTCCCCTTCCCTTCCCCCTTCCCTTCCCTCTTCCCTTCCCCTTCCCCTTTCCCCTCCCCCTCTCCTCCCCTCCCTTACCTTCCCATGAAATGAGAAAGCCTCAGAGATAGTGGCTTGATTAATTTTTCTTTAGATTAAGATATTTGTCTAAGCCTTTAAGGTTTATCTATTGAGCTTTTTTGTCTCCTATTTTTATTTTTCCTACTATGTTTGTCGAGGATAAAATACAGCACTGTGTGCCAAGTCATAATCACTTTTCATTTGAGACTTAATTAAAATGCCTTTATTTTAATGATATATTTGGCTAATGTATTTGAAGTAATCCGAAATTAAGTTTTCTAATGACAAGGTGAGAAGGATAAATTCCATTTACATAAATTGCTGTCTCTTCTCATGCTGTCCCCTCACGCTTCCCCAAATTTCTTATAGGTGTCTGTGATCAAAGTTTTGGGATTCATGTTGCAGAGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGG T . . ALLELEID=96395;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476687_47480799del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2210+116_2562del;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47476845 90923 T G . . AF_TGP=0.18031;ALLELEID=96398;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47476845T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2210+274T>G;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4608577 2 47476888 90924 G C . . AF_TGP=0.96246;ALLELEID=96399;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47476888G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2210+317G>C;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4638843 2 47478270 90929 A C . . ALLELEID=96404;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478270A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2211-2A>C;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267608001 2 47478270 90930 A T . . ALLELEID=96405;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478270A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2211-2A>T;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267608001 2 47478271 90928 G T . . ALLELEID=96403;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47478271G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2211-1G>T;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607979 2 47478285 90934 GATTC G . . ALLELEID=96409;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478289_47478292del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2228_2231del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751156 2 47478289 90932 C A . . ALLELEID=96407;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47478289C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2228C>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751155 2 47478289 90933 C G . . ALLELEID=96408;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47478289C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2228C>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751155 2 47478292 90935 T G . . ALLELEID=96410;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478292T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2231T>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750403 2 47478298 90938 T TA . . ALLELEID=96413;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478298_47478299insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2237_2238insA;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1553369641 2 47478299 90940 CAT C . . ALLELEID=96415;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478301_47478302del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2240_2241del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751036 2 47478306 90942 G A . . ALLELEID=96417;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47478306G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_043785|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2245G>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751477 2 47478312 90943 G A . . ALLELEID=96418;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47478312G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2251G>A;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751119 2 47478312 439192 G C . . ALLELEID=432521;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47478312G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2690543;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751119 2 47478321 90944 AC A . . ALLELEID=96419;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478322del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2261del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608009 2 47478336 90946 G T . . ALLELEID=96421;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47478336G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2275G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749854 2 47478350 90947 AT A . . ALLELEID=96422;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478351del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2290del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749913 2 47478352 90948 G A . . ALLELEID=96423;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47478352G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2291G>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779143 2 47478353 90949 G A . . ALLELEID=96424;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47478353G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2292G>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751105 2 47478354 90951 GC G . . ALLELEID=96426;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478355del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2294del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750346 2 47478355 90952 CT C . . ALLELEID=96427;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2295del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751143 2 47478365 90954 AT A . . ALLELEID=96429;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478366del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2305del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750896 2 47478395 90956 C A . . ALLELEID=96431;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47478395C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2334C>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750618 2 47478395 90957 C CA . . ALLELEID=96432;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47478396dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2335dup|Invitae:4388565;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750149 2 47478405 90959 AC A . . ALLELEID=96434;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478408del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2347del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750233 2 47478420 90961 C CT . . ALLELEID=96436;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478422dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2361dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750803 2 47478420 90960 C CTT . . ALLELEID=96435;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478421_47478422dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2360_2361dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750803 2 47478422 90962 T TA . . ALLELEID=96437;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47478423dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4829435|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2362dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750463 2 47478448 90963 CT C . . ALLELEID=96438;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47478449del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2388del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749983 2 47478466 90966 TCA T . . ALLELEID=96441;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478467CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2408_2409del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750060 2 47478477 90967 A AC . . ALLELEID=96442;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478479dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2418dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779144 2 47478483 90969 G T . . ALLELEID=96444;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478483G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2422G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=34986638 2 47478487 90970 A AG . . ALLELEID=96445;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47478488dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2427dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751079 2 47478493 90971 T G . . ALLELEID=96446;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47478493T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2432T>G;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751018 2 47478498 90972 A G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=96447;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221576|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000002.12:g.47478498A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_043786|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2437A>G;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63749841 2 47478507 90974 C T . . ALLELEID=96449;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47478507C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2446C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749917 2 47478520 90976 G A . . ALLELEID=96451;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47478520G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2458+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608010 2 47480700 90981 CTG C . . ALLELEID=96456;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47480701TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2466_2467del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751621 2 47480707 90983 C T . . ALLELEID=96458;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47480707C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2470C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750623 2 47480720 90984 T TTCATGTTGCAGAGC . . ALLELEID=96459;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47480722_47480735dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2485_2498dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779146 2 47480721 90985 TC T . . ALLELEID=96460;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47480722del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2485del|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850288;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751117 2 47480737 90986 G A . . AF_EXAC=0.00010;ALLELEID=96461;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47480737G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832131|UniProtKB_(protein):P43246#VAR_004488|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2500G>A|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH2-A11|Illumina_Laboratory_Services,Illumina:810024;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750757 2 47480737 90987 GCTAATTT G . . ALLELEID=96462;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47480739_47480745del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2502_2508del|Invitae:4829458;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751447 2 47480741 90989 AT A . . ALLELEID=96464;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47480744del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2507del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750008 2 47480756 90992 TA T . . ALLELEID=96467;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47480758del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2521del;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779147 2 47480759 90993 TAG T . . ALLELEID=96468;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47480760AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2525_2526del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779148 2 47480762 90994 AGT A . . ALLELEID=96469;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47480764TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2529_2530del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749975 2 47480773 90996 C T . . ALLELEID=96471;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47480773C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2536C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750857 2 47480779 90997 GC G . . ALLELEID=96472;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47480782del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2545del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779149 2 47480812 91004 G T . . ALLELEID=96479;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47480812G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2575G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749830 2 47480816 91005 C A . . ALLELEID=96480;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47480816C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2579C>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750849 2 47480816 91006 C T . . AF_EXAC=0.00001;ALLELEID=96481;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47480816C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P43246#VAR_067293|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2579C>T;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750849 2 47480818 91007 C T . . ALLELEID=96482;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47480818C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2581C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750291 2 47480820 91008 A G . . ALLELEID=96483;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47480820A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2583A>G;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63751093 2 47480827 91009 GATATC G . . ALLELEID=96484;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47480830_47480834del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2593_2597del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779151 2 47480859 91014 T A . . ALLELEID=96489;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47480859T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2622T>A;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779152 2 47480865 91015 AAG A . . ALLELEID=96490;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47480866AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2198335|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1787131|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2633_2634del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751618 2 47480871 91021 G A . . ALLELEID=96496;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47480871G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2634G>A;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63751624 2 47480871 91022 G C . . ALLELEID=96497;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47480871G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2634G>C;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751624 2 47480872 91016 G A . . ALLELEID=96491;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47480872G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2634+1G>A;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608019 2 47480872 91017 G T . . ALLELEID=96492;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47480872G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2634+1G>T;GENEINFO=MSH2:4436;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=267608019 2 47480876 91019 G C . . ALLELEID=96494;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47480876G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2634+5G>C;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267608017 2 47482565 91024 T C . . AF_TGP=0.17931;ALLELEID=96499;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47482565T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2635-214T>C;GENEINFO=MSH2:4436;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2042649 2 47482777 561173 A G . . ALLELEID=552276;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47482777A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1114167818 2 47482778 91023 G T . . ALLELEID=96498;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47482778G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2635-1G>T;GENEINFO=MSH2:4436;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267608020 2 47482779 91028 C T . . ALLELEID=96503;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47482779C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2635C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751469 2 47482785 91031 G GA . . ALLELEID=96506;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47482791dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2647dup|Invitae:4829485;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750084 2 47482785 91030 GA G . . ALLELEID=96505;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47482791del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2647del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750084 2 47482797 91033 C T . . ALLELEID=96508;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47482797C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2653C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:286;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750808 2 47482804 91035 TC T . . ALLELEID=96510;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47482806del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2662del;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751007 2 47482825 633493 T G . . ALLELEID=621926;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47482825T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1558526026 2 47482858 91037 C G . . ALLELEID=96512;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47482858C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2714C>G|UniProtKB_(protein):P43246#VAR_004489;GENEINFO=MSH2:4436;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267608022 2 47482884 91040 G T . . ALLELEID=96515;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47482884G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2740G>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608024 2 47482910 91042 T C . . AF_ESP=0.01278;AF_EXAC=0.00393;AF_TGP=0.01398;ALLELEID=96517;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47482910T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2766T>C|Illumina_Laboratory_Services,Illumina:574972|Mayo_Clinic_Laboratories,Mayo_Clinic:287;GENEINFO=MSH2:4436;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=55859129 2 47482929 91045 C T . . AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=96520;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47482929C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2785C>T;GENEINFO=MSH2:4436;MC=SO:0001587|nonsense;ORIGIN=1;RS=551060742 2 47482940 91049 T TA . . ALLELEID=96524;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47482941dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2797dup;GENEINFO=MSH2:4436;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779156 2 47483078 90478 T C . . ALLELEID=95953;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47483078T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:630120|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*129T>C;GENEINFO=MSH2:4436;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=587779059 2 47483170 90479 G T . . ALLELEID=95954;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47483170G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*221G>T|Illumina_Laboratory_Services,Illumina:231674;GENEINFO=MSH2:4436;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=587779060 2 47483175 90480 A G . . AF_TGP=0.00180;ALLELEID=95955;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|not_provided;CLNHGVS=NC_000002.12:g.47483175A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*226A>G|Illumina_Laboratory_Services,Illumina:93959;GENEINFO=MSH2:4436;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=17225060 2 47485641 90481 A C . . AF_TGP=0.24601;ALLELEID=95956;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47485641A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*2692A>C;GENEINFO=MSH2:4436;MC=SO:0002152|genic_downstream_transcript_variant;ORIGIN=1;RS=6544991 2 47487280 90482 G A . . AF_TGP=0.50479;ALLELEID=95957;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47487280G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*4331G>A;GENEINFO=MSH2:4436;MC=SO:0002152|genic_downstream_transcript_variant;ORIGIN=1;RS=6720549 2 47782677 89163 T G . . AF_TGP=0.17991;ALLELEID=94637;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47782677T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-557T>G;GENEINFO=MSH6:2956;ORIGIN=1;RS=3136228 2 47782786 89162 G A . . AF_TGP=0.05072;ALLELEID=94636;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47782786G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-448G>A;GENEINFO=MSH6:2956;ORIGIN=1;RS=3136229 2 47783024 89160 C T . . AF_TGP=0.00240;ALLELEID=94634;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47783024C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-210C>T;GENEINFO=MSH6:2956;ORIGIN=1;RS=181096360 2 47783075 89158 C T . . AF_TGP=0.02915;ALLELEID=94632;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47783075C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-159C>T;GENEINFO=MSH6:2956;ORIGIN=1;RS=41540312 2 47783236 232954 G T . . ALLELEID=232654;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47783236G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876660095 2 47783292 89540 C T . . AF_ESP=0.00023;ALLELEID=95014;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221548|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_/_endometrial_cancer|not_provided;CLNHGVS=NC_000002.12:g.47783292C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52701#VAR_043943|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.59C>T|Illumina_Laboratory_Services,Illumina:684382;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750664 2 47783349 36581 G A . . AF_ESP=0.17965;AF_TGP=0.20088;ALLELEID=45243;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47783349G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3166|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_787|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.116G>A_2|Illumina_Laboratory_Services,Illumina:24831|Mayo_Clinic_Laboratories,Mayo_Clinic:312|UniProtKB_(protein):P52701#VAR_004490|HGMD:CM092149;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1042821 2 47783394 89208 G C . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=94682;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47783394G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52701#VAR_043944|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.161G>C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834017;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751098 2 47783419 36584 C A . . AF_ESP=0.11665;AF_EXAC=0.21466;AF_TGP=0.06909;ALLELEID=45246;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47783419C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:24832|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3167|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.186C>A|Mayo_Clinic_Laboratories,Mayo_Clinic:320;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1042820 2 47783427 89234 C T . . AF_EXAC=0.00008;ALLELEID=94708;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47783427C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52701#VAR_038034|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.194C>T;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=41294984 2 47783474 89282 G A . . ALLELEID=94756;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47783474G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.241G>A;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779239 2 47783515 89295 C G . . AF_ESP=0.09112;AF_EXAC=0.24354;AF_TGP=0.06889;ALLELEID=94769;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47783515C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:328|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.260+22C>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:9947;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55927047 2 47785707 89294 C T . . AF_TGP=0.29433;ALLELEID=94768;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47785707C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.260+2214C>T;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136245 2 47785960 89296 A G . . AF_TGP=0.08726;ALLELEID=94770;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47785960A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.260+2467A>G;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136247 2 47789757 89300 G T . . AF_TGP=0.17812;ALLELEID=94774;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47789757G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.261-1170G>T;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136272 2 47790891 89301 A G . . AF_ESP=0.03921;AF_EXAC=0.03731;AF_TGP=0.02196;ALLELEID=94775;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47790891A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.261-36A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:9980;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1800931 2 47790942 36587 A G . . AF_ESP=0.16523;AF_EXAC=0.13495;AF_TGP=0.08666;ALLELEID=45249;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47790942A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:332|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3169|Illumina_Laboratory_Services,Illumina:24848|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.276A>G;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800932 2 47791092 89519 G A . . ALLELEID=94993;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47791092G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.426G>A;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750342 2 47791097 41596 G T . . AF_ESP=0.00100;AF_EXAC=0.00090;AF_TGP=0.00240;ALLELEID=50035;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN221576|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000002.12:g.47791097G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2753925|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH6-A3|Illumina_Laboratory_Services,Illumina:292694|Mayo_Clinic_Laboratories,Mayo_Clinic:404|UniProtKB_(protein):P52701#VAR_012955|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.431G>T;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=3211299 2 47791125 89524 T A . . ALLELEID=94998;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47791125T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.457+2T>A;GENEINFO=MSH6:2956;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267608036 2 47791136 89522 A G . . AF_ESP=0.00431;AF_EXAC=0.00532;AF_TGP=0.00379;ALLELEID=94996;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47791136A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:261838|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.457+13A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3172|Mayo_Clinic_Laboratories,Mayo_Clinic:405;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1800933 2 47791175 89526 T A . . AF_ESP=0.31388;AF_EXAC=0.27148;AF_TGP=0.18550;ALLELEID=95000;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47791175T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:9928|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.457+52T>A;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136282 2 47791517 89525 T C . . AF_TGP=0.06849;ALLELEID=94999;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47791517T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.457+394T>C;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136284 2 47792346 89521 T C . . AF_TGP=0.16953;ALLELEID=94995;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47792346T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.457+1223T>C;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2348244 2 47795842 89532 G T . . AF_ESP=0.22616;AF_TGP=0.22444;ALLELEID=95006;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47795842G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.458-52G>T;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1800934 2 47795893 89531 G A . . ALLELEID=95005;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47795893G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.458-1G>A;GENEINFO=MSH6:2956;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267608035 2 47795903 89534 C G . . ALLELEID=95008;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47795903C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.467C>G|Mayo_Clinic_Laboratories,Mayo_Clinic:406|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831570;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749873 2 47795954 89537 TGA T . . ALLELEID=95011;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47795956AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.522_523del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267608037 2 47795976 36597 T C . . AF_ESP=0.25065;AF_EXAC=0.21442;AF_TGP=0.13518;ALLELEID=45259;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47795976T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:24841|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3176|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.540T>C|Mayo_Clinic_Laboratories,Mayo_Clinic:407;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800935 2 47796035 89539 C A . . ALLELEID=95013;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47796035C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.599C>A;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751077 2 47797263 89542 T C . . AF_TGP=0.02975;ALLELEID=95016;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47797263T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.627+1200T>C;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136326 2 47797737 89544 C T . . AF_TGP=0.73782;ALLELEID=95018;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47797737C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.628-874C>T;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136329 2 47798555 89543 C T . . AF_TGP=0.06490;ALLELEID=95017;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47798555C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.628-56C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:408|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:9973;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1800936 2 47798625 89546 C A . . ALLELEID=95020;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47798625C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.642C>A;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1800937 2 47798625 89547 C G . . ALLELEID=95021;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47798625C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.642C>G;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1800937 2 47798625 36599 C T . . AF_ESP=0.06912;AF_EXAC=0.07350;AF_TGP=0.02855;ALLELEID=45261;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47798625C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3177|Mayo_Clinic_Laboratories,Mayo_Clinic:409|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.642C>T|HGMD:CM036023|Illumina_Laboratory_Services,Illumina:24853;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1800937 2 47798633 8932 A AT . . ALLELEID=23971;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47798634dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.651dup|Invitae:567865|OMIM_Allelic_Variant:600678.0007;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750955 2 47798635 89550 A T . . ALLELEID=95024;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MedGen:C0009405;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47798635A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.652A>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779315 2 47798643 89551 A C . . AF_EXAC=0.00015;ALLELEID=95025;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47798643A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:410|UniProtKB_(protein):P52701#VAR_012956|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.660A>C;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1800938 2 47798677 89556 C T . . ALLELEID=95030;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47798677C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.694C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779318 2 47798689 89557 C T . . ALLELEID=95031;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47798689C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.706C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750996 2 47798691 89558 AG A . . ALLELEID=95032;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47798693del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.710del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779319 2 47798701 89559 C T . . ALLELEID=95033;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47798701C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.718C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750019 2 47798713 89560 C T . . ALLELEID=95034;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5;CLNHGVS=NC_000002.12:g.47798713C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.730C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608066 2 47798721 89561 A AT . . ALLELEID=95035;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47798721_47798722insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.738_739insT;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779320 2 47798725 89563 C T . . ALLELEID=95037;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47798725C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.742C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837430;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749980 2 47798738 89566 C G . . ALLELEID=95040;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Endometrial_carcinoma|Lynch_syndrome;CLNHGVS=NC_000002.12:g.47798738C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.755C>G;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608048 2 47798744 89567 CTG C . . ALLELEID=95041;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47798745_47798746del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.762_763del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608072 2 47798797 89569 G T . . ALLELEID=95043;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47798797G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.814G>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750552 2 47798827 89570 G GT . . ALLELEID=95044;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47798828dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.845dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1553412283 2 47798875 89574 C T . . AF_ESP=0.00008;ALLELEID=95048;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47798875C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854576|Mayo_Clinic_Laboratories,Mayo_Clinic:412|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.892C>T_2;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=146816935 2 47799002 89165 T C . . AF_EXAC=0.00002;ALLELEID=94639;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47799002T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52701#VAR_043948|Illumina_Laboratory_Services,Illumina:830169|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1019T>C;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61753793 2 47799065 89169 GC G . . ALLELEID=94643;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799068del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1085del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608056 2 47799083 520541 A G . . ALLELEID=511144;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47799083A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553412495 2 47799083 89171 AT A . . ALLELEID=94645;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799084del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1101del_2;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779203 2 47799111 89174 AAAGAG A . . ALLELEID=94648;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799113AGAGA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:3221816|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1135_1139del;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608077 2 47799118 89175 AGAGAT A . . ALLELEID=94649;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47799122_47799126del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1139_1143del|Invitae:3962908;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779206 2 47799147 42467 C T . . AF_ESP=0.01284;AF_EXAC=0.00387;AF_TGP=0.01518;ALLELEID=51637;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47799147C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:310|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1164C>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3179|Illumina_Laboratory_Services,Illumina:574932;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=55708305 2 47799169 36582 C G . . AF_ESP=0.00461;AF_EXAC=0.00518;AF_TGP=0.00200;ALLELEID=45244;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47799169C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:313|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3180|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH6-A9|Illumina_Laboratory_Services,Illumina:99161|UniProtKB_(protein):P52701#VAR_012958|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1186C>G;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2020908 2 47799171 89178 CTA C . . ALLELEID=94652;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799173_47799174del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18048_605|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1190_1191del|Invitae:4829549;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750439 2 47799176 89179 T A . . ALLELEID=94653;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799176T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1193T>A;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779208 2 47799235 633497 T C . . ALLELEID=621927;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799235T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1251033858 2 47799258 89184 CT C . . ALLELEID=94658;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799259del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779209 2 47799282 89185 T A . . ALLELEID=94659;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799282T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1299T>A;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608055 2 47799329 89189 T C . . AF_EXAC=0.00002;ALLELEID=94663;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47799329T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1346T>C|UniProtKB_(protein):P52701#VAR_043949;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750741 2 47799386 89192 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=94666;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221576|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000002.12:g.47799386G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52701#VAR_038035|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1403G>A;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41295268 2 47799402 89193 G GGT . . ALLELEID=94667;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799404_47799405dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_714|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1421_1422dup|Invitae:1232388;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750854 2 47799422 633495 T A . . ALLELEID=621928;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799422T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1244531716 2 47799427 89194 C T . . ALLELEID=94668;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799427C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1444C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750909 2 47799428 561174 G C . . ALLELEID=552277;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47799428G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773226008 2 47799460 89196 G T . . ALLELEID=94670;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799460G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1477G>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608046 2 47799466 89197 C T . . ALLELEID=94671;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1483C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844171|Mayo_Clinic_Laboratories,Mayo_Clinic:316;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=3;RS=587779212 2 47799470 455141 G A . . AF_EXAC=0.00001;ALLELEID=451332;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47799470G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764593111 2 47799491 89198 C G . . AF_ESP=0.00123;AF_EXAC=0.00063;ALLELEID=94672;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47799491C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM053331|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1508C>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3185|UniProtKB_(protein):P52701#VAR_038036;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750897 2 47799509 41588 T C . . AF_ESP=0.00085;AF_EXAC=0.00071;ALLELEID=50027;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47799509T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:318|Illumina_Laboratory_Services,Illumina:106356|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:11068|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834338|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH6-A10|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1526T>C|UniProtKB_(protein):P52701#VAR_043950;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751005 2 47799555 89202 C G . . ALLELEID=94676;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47799555C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1572C>G;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779215 2 47799562 89203 CT C . . ALLELEID=94677;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799563del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1580del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751090 2 47799572 89204 AT A . . ALLELEID=94678;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN235283;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|none_provided;CLNHGVS=NC_000002.12:g.47799573del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1590del|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2392987;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779216 2 47799578 89205 C CT . . ALLELEID=94679;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008;CLNDN=Lynch_syndrome|Turcot_syndrome;CLNHGVS=NC_000002.12:g.47799579dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1596dup|OMIM_Allelic_Variant:600678.0016;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779217 2 47799596 419037 ATCT A . . ALLELEID=405878;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799598CTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4273275;GENEINFO=MSH6:2956;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=1064793600 2 47799597 89206 TC AG . . ALLELEID=94680;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47799597_47799598delinsAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1614_1615delinsAG;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608049 2 47799597 89207 TC G . . ALLELEID=94681;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799597_47799598delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1614_1615delinsG;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779218 2 47799604 126891 A C . . ALLELEID=132403;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47799604A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779778 2 47799609 89209 CAA C . . ALLELEID=94683;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47799611_47799612del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1628_1629del|Invitae:4829574;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779219 2 47799613 89210 GAAAA G . . ALLELEID=94684;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799615_47799618del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1632_1635del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608064 2 47799615 89211 AAAAG A . . ALLELEID=94685;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799617_47799620del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2993854|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1634_1637del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749874 2 47799617 89213 AAG A . . ALLELEID=94687;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799618AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1637_1638del|Invitae:1945767;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608076 2 47799650 89214 A T . . ALLELEID=94688;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799650A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1667A>T;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751312 2 47799753 89221 C T . . ALLELEID=94695;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47799753C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1770C>T;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=267608070 2 47799763 89223 GT G . . ALLELEID=94697;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47799767del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1784del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608050 2 47799788 89224 CAAAG C . . ALLELEID=94698;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799789_47799792del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1806_1809del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750735 2 47799798 89225 T TA . . ALLELEID=94699;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47799802dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1819dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779221 2 47799818 89227 C A . . ALLELEID=94701;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799818C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1835C>A;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750564 2 47799849 89230 AC A . . ALLELEID=94704;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47799852del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1869del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=71539659 2 47799858 89231 C T . . AF_EXAC=0.00016;ALLELEID=94705;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47799858C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:575876|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829576|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1875C>T;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63749886 2 47799883 89232 TTG T . . ALLELEID=94706;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47799884_47799885del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1901_1902del;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608082 2 47799939 89235 G GGTGA . . ALLELEID=94709;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47799940_47799943dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1957_1960dup|Invitae:4829596;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751167 2 47800023 89242 CCT C . . ALLELEID=94716;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47800024CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2045_2046del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608057 2 47800030 89243 G GCT . . ALLELEID=94717;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47800031CT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2050_2051dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779226 2 47800040 89245 G A . . ALLELEID=94719;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47800040G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2833660|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2057G>A;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779227 2 47800041 89247 TTG T . . ALLELEID=94721;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800043GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4829606|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2062_2063del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750075 2 47800044 89246 T A . . ALLELEID=94720;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800044T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2061T>A|Mayo_Clinic_Laboratories,Mayo_Clinic:322;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608068 2 47800088 89253 C G . . ALLELEID=94727;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47800088C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2105C>G;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751419 2 47800100 89254 T C . . ALLELEID=94728;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47800100T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2117T>C;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779231 2 47800110 89255 T A . . ALLELEID=94729;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47800110T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2127T>A;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779232 2 47800129 89256 ACAGT A . . ALLELEID=94730;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800133_47800136del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2150_2153del|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842602|Invitae:1165329;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608058 2 47800174 89261 C T . . ALLELEID=94735;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47800174C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2191C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751442 2 47800177 89262 C T . . ALLELEID=94736;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800177C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2194C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834446;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751127 2 47800217 561175 T A . . ALLELEID=552278;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000002.12:g.47800217T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1558664787 2 47800236 36585 T C . . AF_ESP=0.02053;AF_EXAC=0.00647;AF_TGP=0.02396;ALLELEID=45247;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47800236T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:95242|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3190|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2253T>C_1|Mayo_Clinic_Laboratories,Mayo_Clinic:325;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2020913 2 47800255 42468 C T . . AF_ESP=0.01261;AF_EXAC=0.00379;AF_TGP=0.01478;ALLELEID=51638;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47800255C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:326|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3191|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2272C>T|Illumina_Laboratory_Services,Illumina:574934;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=56371757 2 47800283 141058 C T . . ALLELEID=150772;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN169374;CLNDN=Rhabdomyosarcoma|Carcinoma_of_colon|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47800283C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781462 2 47800297 89267 C T . . ALLELEID=94741;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800297C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2314C>T|UniProtKB_(protein):P52701#VAR_043958;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750138 2 47800302 89268 C A . . ALLELEID=94742;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47800302C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2319C>A;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63749895 2 47800302 89269 C T . . AF_EXAC=0.00007;ALLELEID=94743;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47800302C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2550139|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2319C>T;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63749895 2 47800313 89271 G A . . ALLELEID=94745;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800313G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2330G>A;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779234 2 47800329 89274 CTG C . . ALLELEID=94748;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800331_47800332del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2348_2349del;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608065 2 47800361 89277 ATG A . . ALLELEID=94751;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800362_47800363del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2379_2380del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779237 2 47800381 89279 G C . . AF_ESP=0.00015;ALLELEID=94753;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Carcinoma_of_colon|Malignant_Colorectal_Neoplasm|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47800381G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2398G>C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:9938|UniProtKB_(protein):P52701#VAR_012961;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61748083 2 47800486 89285 C T . . ALLELEID=94759;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800486C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2503C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751321 2 47800517 89286 A AT . . ALLELEID=94760;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47800518dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2535dup;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779241 2 47800548 89290 TATTG T . . ALLELEID=94764;CLNDISDB=Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Ovarian_carcinoma|Carcinoma_of_colon|Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800552_47800555del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2569_2572del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779243 2 47800592 89303 A AAATT . . ALLELEID=94777;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800594_47800597dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2611_2614dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750357 2 47800616 8931 T C . . AF_EXAC=0.00528;AF_TGP=0.00399;ALLELEID=23970;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221548|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Malignant_tumor_of_breast|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_/_endometrial_cancer|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47800616T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600678.0006|Illumina_Laboratory_Services,Illumina:201498|UniProtKB_(protein):P52701#VAR_012964|Mayo_Clinic_Laboratories,Mayo_Clinic:330|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3192|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2633T>C;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2020912 2 47800644 89307 T G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=94781;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47800644T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2661T>G;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=267608069 2 47800655 89308 TCT C . . ALLELEID=94782;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800655_47800657delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2672_2674delinsC;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779244 2 47800697 89310 T A . . ALLELEID=94784;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800697T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2714T>A;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779245 2 47800700 89311 CTG C . . ALLELEID=94785;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47800702_47800703del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2719_2720del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750904 2 47800714 89312 C T . . AF_ESP=0.00008;ALLELEID=94786;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Breast_carcinoma|Endometrial_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800714C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3194|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2731C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831100|Mayo_Clinic_Laboratories,Mayo_Clinic:331;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751017 2 47800747 89314 C T . . AF_EXAC=0.00001;ALLELEID=94788;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47800747C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2764C>T|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_779;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779246 2 47800747 89315 CG C . . ALLELEID=94789;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800748del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2765del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779247 2 47800748 410514 G A . . AF_EXAC=0.00002;ALLELEID=392951;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47800748G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752839086 2 47800748 89316 G GA . . ALLELEID=94790;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800751dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2768dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608063 2 47800798 89318 C T . . ALLELEID=94792;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47800798C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2815C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750140 2 47800833 89320 CCTCCTGGA C . . ALLELEID=94794;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47800834_47800841del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2851_2858del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750940 2 47800889 234622 A G . . ALLELEID=231565;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800889A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63749919 2 47800914 89323 C G . . ALLELEID=94797;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47800914C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2931C>G;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750111 2 47800926 89324 TC T . . ALLELEID=94798;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47800928del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2945del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779250 2 47800957 89326 GA G . . ALLELEID=94800;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800959del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2976del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779251 2 47800966 89328 G T . . ALLELEID=94802;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800966G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2983G>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750258 2 47800966 89329 GA G . . ALLELEID=94803;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47800967del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2984del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749938 2 47800996 89330 C T . . AF_EXAC=0.00001;ALLELEID=94804;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47800996C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3013C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:335;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750563 2 47801003 89331 G A . . ALLELEID=94805;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Mismatch_repair_cancer_syndrome_3;CLNHGVS=NC_000002.12:g.47801003G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600678.0012|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3020G>A|MSH6_homepage_-_Colon_cancer_gene_variant_databases:MSH6_000472;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779252 2 47801033 89334 ATC A . . ALLELEID=94808;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47801034TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3053_3054del|OMIM_Allelic_Variant:600678.0008;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751407 2 47801050 89336 G T . . ALLELEID=94810;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47801050G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3067G>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608059 2 47801086 89338 C T . . AF_EXAC=0.00001;ALLELEID=94812;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47801086C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838796|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3103C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749999 2 47801100 89339 CTT C . . ALLELEID=94813;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47801102_47801103del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3119_3120del|Invitae:2129729;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608042 2 47801135 89340 TAG T . . ALLELEID=94814;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47801136AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:888071|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3155_3156del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750833 2 47801143 89341 A T . . AF_ESP=0.00031;ALLELEID=94815;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47801143A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3160A>T|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_790|Illumina_Laboratory_Services,Illumina:718395|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840741;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267608075 2 47801146 126892 G C . . ALLELEID=132404;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47801146G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587779254 2 47801155 218057 G C . . ALLELEID=214603;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000002.12:g.47801155G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:340;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=863225404 2 47801156 89344 G T . . ALLELEID=94818;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47801156G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3172+1G>T;GENEINFO=MSH6:2956;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779255 2 47801326 89343 C T . . AF_TGP=0.03215;ALLELEID=94817;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47801326C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:339|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3172+171C>T;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136337 2 47802973 89348 GCGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCATATGCCACGTGTATTAGGCACTGCTAATTTCTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGGTCCTGAACTGCTGACCTCGTGAACTCTGCCCGCCTAGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTCTGCTCTATCTTTTAGCTTTCCCTTGGCACTTCTATGGTCCAGATGTTAGAGGGTAAGTATTTTGATGGGGGAGATCGTTGGACTGTAATTGAAAGTTATGTCTTATAATGAAATGTGTTATATAAAGAAGACCTATAAAACACTTAGGCTGATAAAACCCCCAAACGATGAAGCCTCACTTTTACCCTCTCTTTTAACAGATGTTTTACTGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATGTGTCGCCCAGTAATTCTGTTGCCGGAAGATACCCCCCCCTTCTTAGAGCTTAAAGGATCACGCCATCCTTGCATTACGAAGACTTTTTTTGGAGATGATTTTATTCCTAATGACATTCTAATAGGCTGTGAGGAAGAGGAGCAGGAAAATGGCAAAGCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAACTGATTCTTAAAGTTTTGTTATCAGAAAGTCATTTGTGACATTAGGAATAACATACTTAGGTGATCATTTTCCAAACACAGTTACATAAAAGTCAGCCAGTGACTTAATAGGAAGCAAAGGGAAATTACTCCCTGTGTTATAAAATTGAGAATTATATTTAGCTGAAACATCGATGCTTAATGTTAAGGGGAATATATGTTAAAAAGGGGAAGGAGGTCAGTCATTCAGGTCATGAGGCCCTTTGACTTGAATTCATTTCCTCAGAAGGTAGGTATATTCATAGTGAACAAAAATACAAAGGCTGTATGAAAAGATGAAAATGTTACAGGTTTATCCTTAAATTAGACTCATTTGCAGAAATGCAAATGAGGTAAGAAAGCAAATATAGTTCATGACCTCTAGCAACTGTTGAAAACTGCTCTTTAGGGATGACATGCTGGCCCTTTTTTTTTTGTTGTTGCCAAGGCTGAAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCGAACTCCCAGGTTCAACCCTTCCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGATGTACACCATCATGCCTAGCTCATTTTTAAAAAAATTTTTTATGGCATTGTATTTATCTTCTCTTTATAACCAGGGGTTGACCAGCCACAGAACTTGTAAAGTTTTTTATATTTTTAAAAGGTTGTAAGAAATAGTAGTAGTTGGCTGGTCCCCGCTGCTCTCCTGCATTATAGTATACTTCTGTTCACCTAGTTTGCTAGAGAGAGGCAGTATAGTGTGTATAGTGATTTCCAAACTTTTTCTTTAAATCAGAATCACCTGAAAGAATGTGACAACGTGTAAAAAAAAAAAAAAAGGTGCAGAGATTCCATCCTGACATGGATTCACTTGATTGGAATTGATTCTAGGCATCTCAGTAGTTTTAAAGAGCTCCTAGGTGATTCTATTCTGGCCAGCGTTGAGAATCACTAGGGTAGTGGGTTGGTAAGCAGGCTCTGATGTTTTAAAGGCCAGGTGAGGCCCTATGCCTCTTGTCTCTCTTAGCCTCAACTTTCTCCATGTTAGCAAATGGATTTCAGAACAGAACCAACGTACATGTGATTGTGAAAGTTGTTTTAGAGTGCCTAGCTCTTACGTAAGGGTTCATAAGAAAGACAAAAGTTTATGAAACTGTTACTACCAGTCATAAAAGACCTTTTCCTCCCTCATTCACAGGCTGGCTTATTAGCTGTAATGGCCCAGATGGGTTGTTACGTCCCTGCTGAAGTGTGCAGGCTCACACCAATTGATAGAGTGTTTACTAGACTTGGTGCCTCAGACAGAATAATGTCAGGTGAGTTTTTTGTTTCCCACTTAAGTTCTCATTCAGTCATTTAGATGTGATAAAAGATATTTGCTTCTTGTATATGAGCCTTTTAAATCTAATATTTGATTTTTCTGGTGTTACTTTAAAAACATCACTTTTTAAGAACTGCATAGTCTCTCTCTCTTTTTTTTTTTTTTGAGATGGAGTTTCCCTCTTGTTGCCCAAGCTGGAGTGCAATGGCA G . . ALLELEID=94822;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47802987_47805255del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3173-433_3556+228del;GENEINFO=MSH6:2956;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 2 47803319 89345 G C . . AF_TGP=0.82248;ALLELEID=94819;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47803319G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3173-101G>C|Mayo_Clinic_Laboratories,Mayo_Clinic:341;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2072447 2 47803417 89347 CAG C . . ALLELEID=94821;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47803419_47803420del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3173-1_3173del|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854883;GENEINFO=MSH6:2956;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587779256 2 47803428 89349 CT C . . ALLELEID=94823;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803429del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3182del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750196 2 47803435 410436 T G . . ALLELEID=393000;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47803435T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060502901 2 47803441 89350 ACTAT A . . ALLELEID=94824;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803442_47803445del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3195_3198del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608085 2 47803442 89351 C CTA . . ALLELEID=94825;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47803443TA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4829679|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3198_3199dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749821 2 47803449 89352 C T . . ALLELEID=94826;CLNDISDB=.|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Endometrial_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47803449C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:345|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3202C>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3200|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_191|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840183;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=3;RS=63749843 2 47803454 89354 G T . . ALLELEID=94828;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803454G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3207G>T;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=267608074 2 47803464 41593 C T . . AF_ESP=0.00062;ALLELEID=50032;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47803464C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH6-A14|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3217C>T|Illumina_Laboratory_Services,Illumina:268979|Mayo_Clinic_Laboratories,Mayo_Clinic:346;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=11;RS=142254875 2 47803467 89356 AT A . . ALLELEID=94830;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803468del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3221del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608090 2 47803473 89357 C T . . ALLELEID=94831;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|none_provided|not_provided;CLNHGVS=NC_000002.12:g.47803473C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52701#VAR_043965|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838396|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3226C>T;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750617 2 47803493 42470 G T . . AF_ESP=0.00392;AF_TGP=0.00140;ALLELEID=51640;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47803493G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3201|Illumina_Laboratory_Services,Illumina:223588|Mayo_Clinic_Laboratories,Mayo_Clinic:350|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3246G>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831115;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=3136351 2 47803500 89364 A AC . . ALLELEID=94838;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47803508dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=HGMD:CI972618|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3261dup|Invitae:239384;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=267608078 2 47803500 89363 AC A . . ALLELEID=94837;CLNDISDB=.|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Endometrial_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_3|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47803508del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3204|OMIM_Allelic_Variant:600678.0017|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3261del|Invitae:307215;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=267608078 2 47803506 89361 C CT . . ALLELEID=94835;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803506_47803507insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3259_3260insT;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779258 2 47803508 89365 C CT . . ALLELEID=94839;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803510dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3263dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608091 2 47803510 89366 TCTTAGAG T . . ALLELEID=94840;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47803515_47803521del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3268_3274del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779259 2 47803518 89367 C CT . . ALLELEID=94841;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803520dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3273dup;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608095 2 47803552 89371 CT C . . ALLELEID=94845;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47803559del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3344462|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3312del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608092 2 47803552 89370 CTT C . . ALLELEID=94844;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47803558_47803559del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2495344|OMIM_Allelic_Variant:600678.0009|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3311_3312del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608092 2 47803553 36589 T A . . AF_ESP=0.00446;AF_EXAC=0.02044;AF_TGP=0.04932;ALLELEID=45251;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47803553T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:353|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3205|Illumina_Laboratory_Services,Illumina:278600|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3306T>A;GENEINFO=MSH6:2956;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2020910 2 47803566 89372 GA G . . ALLELEID=94846;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803567del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3320del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750377 2 47803567 89373 A AT . . ALLELEID=94847;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803571dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3324dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608088 2 47803585 633494 T G . . ALLELEID=621929;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803585T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41295272 2 47803588 89374 T TC . . ALLELEID=94848;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803588_47803589insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3341_3342insC;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779260 2 47803602 89375 G T . . ALLELEID=94849;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803602G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3355G>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608084 2 47803614 89376 G T . . ALLELEID=94850;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803614G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3367G>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608086 2 47803625 89377 AGCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAAC A . . ALLELEID=94851;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47803626_47803690del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3379_3438+5del;GENEINFO=MSH6:2956;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1553331676 2 47803683 89382 C T . . ALLELEID=94856;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47803683C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3436C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750356 2 47803686 89386 G A . . ALLELEID=94860;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47803686G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3438+1G>A;GENEINFO=MSH6:2956;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608096 2 47803699 42471 A T . . AF_ESP=0.31462;AF_EXAC=0.40426;AF_TGP=0.40096;ALLELEID=51641;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided;CLNHGVS=NC_000002.12:g.47803699A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:24867|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3206|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3438+14A>T|Mayo_Clinic_Laboratories,Mayo_Clinic:356;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2020911 2 47804894 89389 C T . . AF_ESP=0.00346;AF_EXAC=0.00218;AF_TGP=0.00080;ALLELEID=94863;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47804894C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS053474|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3439-16C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:357;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=192614006 2 47804908 89391 A G . . ALLELEID=94865;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47804908A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2437521|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3439-2A>G|Mayo_Clinic_Laboratories,Mayo_Clinic:358;GENEINFO=MSH6:2956;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267608098 2 47804909 89390 G T . . ALLELEID=94864;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47804909G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3439-1G>T;GENEINFO=MSH6:2956;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587779263 2 47804958 89399 G T . . ALLELEID=94873;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47804958G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3487G>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779267 2 47804959 89400 A T . . AF_EXAC=0.00118;AF_TGP=0.00280;ALLELEID=94874;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47804959A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:673997|Mayo_Clinic_Laboratories,Mayo_Clinic:363|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3488A>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831052|UniProtKB_(protein):P52701#VAR_043969;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750252 2 47804981 89401 TGA T . . ALLELEID=94875;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47804982_47804983del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3511_3512del;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751410 2 47804982 89403 GAT G . . ALLELEID=94877;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47804984_47804985del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2655326|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3513_3514del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750194 2 47804984 89404 T TA . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=94878;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47804985dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3514dup|Invitae:653641;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751327 2 47804985 89405 AGAGT A . . ALLELEID=94879;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47804987_47804990del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3516_3519del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608099 2 47804988 89408 G GTGTT . . ALLELEID=94882;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47804990_47804993dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3519_3522dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608101 2 47804990 89407 G GA . . ALLELEID=94881;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47804990_47804991insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3519_3520insA;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750296 2 47805173 89410 G A . . AF_TGP=0.67232;ALLELEID=94884;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47805173G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3556+146G>A;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7562048 2 47805187 89411 T C . . AF_TGP=0.01538;ALLELEID=94885;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47805187T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3556+160T>C;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56320267 2 47805578 89416 T A . . AF_ESP=0.00724;AF_EXAC=0.00569;AF_TGP=0.00160;ALLELEID=94890;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000002.12:g.47805578T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3557-40T>A|Mayo_Clinic_Laboratories,Mayo_Clinic:368;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=189436849 2 47805601 89418 A AT . . ALLELEID=94892;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47805614dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3557-4dup;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267608102 2 47805615 89415 A T . . AF_EXAC=0.00044;AF_TGP=0.01038;ALLELEID=94889;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47805615A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3557-3A>T|Illumina_Laboratory_Services,Illumina:550402;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41295274 2 47805663 89425 TCATG T . . ALLELEID=94899;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47805666TGCA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3609_3612del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779274 2 47805693 219294 T C . . ALLELEID=220980;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47805693T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=864622041 2 47805695 89427 G GT . . ALLELEID=94901;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47805696dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3635dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750731 2 47805704 89433 TTAGG T . . ALLELEID=94907;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47805707_47805710del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3646_3646+3del;GENEINFO=MSH6:2956;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608106 2 47805735 89430 A ACTAT . . ALLELEID=94904;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47805738ATCT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3646+35_3646+38dup;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1805181 2 47805735 89429 ACTAT A . . ALLELEID=94903;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47805738ATCT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3646+35_3646+38del;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1805181 2 47805798 89432 T C . . AF_TGP=0.81430;ALLELEID=94906;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47805798T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3646+91T>C|Mayo_Clinic_Laboratories,Mayo_Clinic:371;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136359 2 47806133 89436 ATTTTTGTTTTAATTCCT A . . ALLELEID=94910;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47806136TTTGTTTTAATTCCTTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3647-51_3647-35del;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607687 2 47806197 89440 TTAACAG T . . ALLELEID=94914;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806198_47806203del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3647-6_3647-1del;GENEINFO=MSH6:2956;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267608112 2 47806202 89435 A C . . AF_EXAC=0.00001;ALLELEID=94909;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47806202A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3647-2A>C;GENEINFO=MSH6:2956;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267608111 2 47806203 89434 G A . . ALLELEID=94908;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806203G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3647-1G>A;GENEINFO=MSH6:2956;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587779279 2 47806234 89444 C CAATAGCAAATGCAGTTGTTAAAGAACTTG . . ALLELEID=94918;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806235_47806263dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3678_3706dup;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553332996 2 47806253 36593 TAAAG T . . ALLELEID=45255;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806256_47806259del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3699_3702del|Invitae:661518;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=193922343 2 47806278 89450 TGTC T . . ALLELEID=94924;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806281_47806283del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3724_3726del|Invitae:1300342;GENEINFO=MSH6:2956;MC=SO:0001822|inframe_deletion;ORIGIN=3;RS=63749942 2 47806279 89453 GTCGTACATTATTT G . . ALLELEID=94927;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000002.12:g.47806282_47806294del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3725_3737del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779287 2 47806285 89454 C CATTA . . ALLELEID=94928;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47806286_47806289dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3729_3732dup|Invitae:4829739;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779288 2 47806314 89456 G GA . . ALLELEID=94930;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806314_47806315insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3757_3758insA;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779289 2 47806325 89458 T G . . ALLELEID=94932;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806325T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3768T>G|Mayo_Clinic_Laboratories,Mayo_Clinic:382;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751058 2 47806329 89459 C T . . ALLELEID=94933;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806329C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3772C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750554 2 47806351 89462 GACATATGGTATGTGCAAATTGTTTTTTTCC G . . ALLELEID=94936;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806355_47806384del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3798_3801+26del;GENEINFO=MSH6:2956;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779291 2 47806353 89463 CAT C . . ALLELEID=94937;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806354AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4325115|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3799_3800del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608114 2 47806407 89467 C CT . . ALLELEID=94941;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47806409dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3802-43dup;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34154602 2 47806412 36594 C G . . AF_ESP=0.78722;AF_EXAC=0.74265;AF_TGP=0.80911;ALLELEID=45256;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47806412C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:386|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3802-40C>G;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3136367 2 47806453 89469 C CA . . ALLELEID=94943;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806454dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3804dup|Invitae:1289597;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608118 2 47806466 89471 A AAATG . . ALLELEID=94945;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806467AATG[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3821_3824dup;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750262 2 47806488 89472 C T . . ALLELEID=94946;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806488C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3838C>T;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750139 2 47806489 89474 AGGAGACT A . . ALLELEID=94948;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806490_47806496del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3840_3846del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751319 2 47806496 89475 T TATTA . . AF_ESP=0.00008;ALLELEID=94949;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806497_47806500dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1316036|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3847_3850dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608128 2 47806533 89478 CCTAAAAG C . . ALLELEID=94952;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806537_47806543del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3887_3893del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608130 2 47806561 89479 G A . . AF_ESP=0.00292;AF_EXAC=0.00077;AF_TGP=0.00280;ALLELEID=94953;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47806561G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3911G>A;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34625968 2 47806567 89480 C CT . . ALLELEID=94954;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806568dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3918dup;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=1553333594 2 47806568 89481 T TAATCTCCC . . ALLELEID=94955;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806570_47806577dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847159|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3920_3927dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779295 2 47806581 89483 G GAAGT . . ALLELEID=94957;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000002.12:g.47806582_47806585dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3932_3935dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608127 2 47806586 89485 T TATTC . . ALLELEID=94959;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806588_47806591dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847709|Invitae:1019194|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3938_3941dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608126 2 47806588 89486 T TTCAAAAGGGACATAGAAAA . . AF_EXAC=0.00001;ALLELEID=94960;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806589_47806607dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2655028|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3939_3957dup|Invitae:339467;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750767 2 47806605 89488 AAAGC A . . ALLELEID=94962;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806609_47806612del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:661378|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MSH6-A19|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_17446_605|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3959_3962del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608120 2 47806618 89492 TTGAGAAGATGA T . . ALLELEID=94966;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806619_47806629del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3969_3979del;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779299 2 47806630 89496 A ATCAG . . ALLELEID=94970;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806634_47806637dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:554944|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3984_3987dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608121 2 47806634 89495 G GATCA . . ALLELEID=94969;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806634_47806635insATCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3984_3985insATCA;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608124 2 47806636 89497 C T . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=94971;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47806636C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3986C>T|Illumina_Laboratory_Services,Illumina:448742|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1268;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199594809 2 47806641 42472 C T . . ALLELEID=51642;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000002.12:g.47806641C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:397|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3991C>T|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_442;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=267608094 2 47806645 89498 T TATTTC . . ALLELEID=94972;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47806646_47806650dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3996_4000dup;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779301 2 47806651 89506 G A . . ALLELEID=94980;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47806651G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4001G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:401;GENEINFO=MSH6:2956;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267608122 2 47806652 89500 GTAAC G . . ALLELEID=94974;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_5|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000002.12:g.47806655ACTA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4001+12_4001+15del|Invitae:15437;GENEINFO=MSH6:2956;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608132 2 47806653 89501 T C . . ALLELEID=94975;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000002.12:g.47806653T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4001+2T>C;GENEINFO=MSH6:2956;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608131 2 47806748 89514 AAACTTTTTTTTTTTTTTTTTTAA TTAAAAAAAAAAAAAAAAAAGTTT . . ALLELEID=94988;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806748_47806771inv;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Inversion;CLNVCSO=SO:1000036;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4002-31_4002-8inv;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1 2 47806751 89510 C CTT . . ALLELEID=94984;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806768_47806769dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4002-11_4002-10dup;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=59056100 2 47806751 89511 C CTTT . . ALLELEID=94985;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|not_provided;CLNHGVS=NC_000002.12:g.47806767_47806769dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4002-12_4002-10dup;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=59056100 2 47806751 89512 C CTTTT . . ALLELEID=94986;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806766_47806769dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4002-13_4002-10dup;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=59056100 2 47806751 89508 CT C . . ALLELEID=94982;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47806769del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4002-10del;GENEINFO=MSH6:2956;MC=SO:0001627|intron_variant;ORIGIN=1;RS=59056100 2 47806841 89517 C CGTCA . . ALLELEID=94991;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47806841_47806842insGTCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4064_4065insGTCA;GENEINFO=MSH6:2956;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267608141 2 47806842 89518 T TTTGA . . ALLELEID=94992;CLNDISDB=MONDO:MONDO:0001464,MedGen:C0153436|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_sigmoid_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000002.12:g.47806845_47806848dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:13851|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4068_4071dup|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2457580|Illumina_Laboratory_Services,Illumina:675412;GENEINFO=MSH6:2956;MC=SO:0001587|nonsense;ORIGIN=1;RS=55740729 2 47811905 89153 T C . . AF_TGP=0.12400;ALLELEID=94627;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000002.12:g.47811905T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*5045T>C;GENEINFO=MSH6:2956|FBXO11:80204;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2537742 2 166053034 12897 C T . . AF_TGP=0.49341;ALLELEID=27936;CLNDISDB=MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:ORPHA1934,SNOMED_CT:230429005|MedGen:C2751756|MedGen:CN236494;CLNDN=Early_infantile_epileptic_encephalopathy_with_suppression_bursts|Febrile_seizures,_familial,_3a|carbamazepine_response_-_Dosage;CLNHGVS=NC_000002.12:g.166053034C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1447961401PA143485705|PharmGKB_Clinical_Annotation:613978931|PharmGKB:1447961401|PharmGKB_Clinical_Annotation:613978937|PharmGKB:613978937|PharmGKB:613978931|PharmGKB:1447961401PA448785|PharmGKB:613978931PA448785|OMIM_Allelic_Variant:182389.0016|PharmGKB:613978937PA450947;GENEINFO=SCN1A:6323;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3812718 2 215347616 225999 T C . . AF_EXAC=0.39660;AF_TGP=0.28554;ALLELEID=227829;CLNDISDB=MedGen:CN236565;CLNDN=methotrexate_response_-_Efficacy;CLNHGVS=NC_000002.12:g.215347616T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:981202609PA450428|PharmGKB:981202609|PharmGKB_Clinical_Annotation:981202609;GENEINFO=ATIC:471;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4673993 2 233757136 810732 G A . . AF_TGP=0.30212;ALLELEID=798981;CLNDISDB=.|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500,SNOMED_CT:27503000;CLNDN=irinotecan_response_-_Toxicity|Gilbert_syndrome;CLNHGVS=NC_000002.12:g.233757136G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A6:54578|UGT1A5:54579|UGT1A9:54600|UGT1A4:54657|UGT1A1:54658|UGT1A3:54659;MC=SO:0001627|intron_variant;ORIGIN=5;RS=10929302 3 12584520 44623 G A . . AF_ESP=0.00830;AF_EXAC=0.00708;AF_TGP=0.00439;ALLELEID=53790;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|Cardiovascular_phenotype|none_provided|not_provided;CLNHGVS=NC_000003.12:g.12584520G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:201616|Illumina_Laboratory_Services,Illumina:70260|ClinGen_RASopathy_Variant_Curation_Expert_Panel:62438d26-e85a-41a6-ae0f-89550c868512;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=3730297 3 12584547 40628 C T . . AF_TGP=0.00359;ALLELEID=49098;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12584547C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:285446|ClinGen_RASopathy_Variant_Curation_Expert_Panel:5dd1c397-b2a2-4954-bbbb-583d4a4576dc;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=144876026 3 12584624 13960 G C . . ALLELEID=28999;CLNDISDB=MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome_with_multiple_lentigines|Familial_hypertrophic_cardiomyopathy_1|Noonan_syndrome_5|LEOPARD_syndrome_2|Noonan_syndrome|Rasopathy|none_provided|not_provided;CLNHGVS=NC_000003.12:g.12584624G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:992010|ClinGen_RASopathy_Variant_Curation_Expert_Panel:f8f03fe0-c539-40c8-ad23-64451f155a8c|UniProtKB_(protein):P04049#VAR_037821|OMIM_Allelic_Variant:164760.0004;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80338797 3 12584631 40627 T C . . AF_ESP=0.00069;AF_EXAC=0.00076;AF_TGP=0.00080;ALLELEID=49097;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12584631T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:04430f0e-93d8-4407-9ac9-c6268cb1dbba|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:111467|Illumina_Laboratory_Services,Illumina:134793;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=141791080 3 12584895 40626 T C . . AF_ESP=0.02191;AF_EXAC=0.00616;AF_TGP=0.01957;ALLELEID=49096;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|Cardiovascular_phenotype|none_provided|not_provided;CLNHGVS=NC_000003.12:g.12584895T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:603777|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132906|ClinGen_RASopathy_Variant_Curation_Expert_Panel:d1aca5e8-fdc6-4f63-acc4-05595b97c993;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=3730296 3 12585118 285438 T C . . AF_EXAC=0.00010;ALLELEID=269675;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12585118T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b36ca919-43d1-4147-a163-d7613a3b1d81;GENEINFO=RAF1:5894;MC=SO:0001627|intron_variant;ORIGIN=1;RS=771344560 3 12585161 40621 C G . . AF_TGP=0.00100;ALLELEID=49091;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12585161C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:642442|ClinGen_RASopathy_Variant_Curation_Expert_Panel:72d45c95-18bf-47fe-a2fa-b6ca719e877f;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=5746244 3 12585161 448927 C T . . AF_TGP=0.00040;ALLELEID=442521;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12585161C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:4eded74f-437b-40aa-9c2d-bfc1eb61cddc;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=5746244 3 12585203 40620 C T . . AF_ESP=0.00023;AF_EXAC=0.00012;AF_TGP=0.00120;ALLELEID=49090;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12585203C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ba266709-c2b5-4699-8ada-c3904f1b43ce;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=114687276 3 12585745 21342 G A . . ALLELEID=34194;CLNDISDB=MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN230736|MedGen:CN517202;CLNDN=Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Rasopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12585745G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04049#VAR_037818|ClinGen_RASopathy_Variant_Curation_Expert_Panel:3d3d7a51-6ba9-4434-a6d9-ebf5e4b84ae4;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80338799 3 12591708 40614 C A . . ALLELEID=49084;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_5|Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12591708C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:54e513e4-3d82-4530-8f42-82522d750073;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=730880382 3 12591760 181509 C T . . AF_EXAC=0.00030;AF_TGP=0.00060;ALLELEID=179051;CLNDISDB=MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12591760C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:57853|ClinGen_RASopathy_Variant_Curation_Expert_Panel:f46177ab-5c80-48cf-bd17-6acc5668f182;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=559632360 3 12591788 180718 A G . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=178881;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN230736|MedGen:CN517202;CLNDN=Rasopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12591788A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=146668293 3 12599669 178666 AAAGGGAGGGCCCC A . . ALLELEID=173884;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Noonan_syndrome|Rasopathy|not_specified;CLNHGVS=NC_000003.12:g.12599673_12599685del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:64863|ClinGen_RASopathy_Variant_Curation_Expert_Panel:e3caac03-d88a-45f8-bcde-e41975fe8745;GENEINFO=RAF1:5894;MC=SO:0001627|intron_variant;ORIGIN=1;RS=727504451 3 12599717 40613 C G . . ALLELEID=49083;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12599717C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:04812bc6-1939-486b-9212-b10aa1e3260e;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397516813 3 12600207 40612 A G . . AF_ESP=0.00008;AF_EXAC=0.00016;ALLELEID=49082;CLNDISDB=MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Familial_hypertrophic_cardiomyopathy_1|Rasopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12600207A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:5dd4045c-aa85-4341-8238-7a7b67f85d3f|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:992009;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=370243307 3 12600219 40611 G A . . AF_ESP=0.00484;AF_EXAC=0.00155;AF_TGP=0.00619;ALLELEID=49081;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000003.12:g.12600219G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04049#VAR_018840|Illumina_Laboratory_Services,Illumina:618806|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:144130|ClinGen_RASopathy_Variant_Curation_Expert_Panel:ed484574-9b2a-4dda-bd46-ea935a45f83c;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=5746220 3 12600233 40609 T G . . AF_ESP=0.00023;AF_EXAC=0.00030;ALLELEID=49079;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12600233T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2692fba7-430e-447b-bb66-828d255d1af1|Illumina_Laboratory_Services,Illumina:303544;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=5746219 3 12600235 448928 T C . . AF_EXAC=0.00007;ALLELEID=442522;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12600235T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:92a20fc0-2bb5-4c16-b8cb-13af84a65a97;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=775898894 3 12600415 181510 C T . . AF_EXAC=0.00007;AF_TGP=0.00060;ALLELEID=179052;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12600415C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:6af67ce2-bd38-4735-81b0-40d39fe416e2;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=368796800 3 12604182 40607 A C . . ALLELEID=49077;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12604182A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:fb3934fe-b004-493d-ac6a-987127cebac3;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397516830 3 12604189 13958 G A . . ALLELEID=28997;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MeSH:D030342,MedGen:C0950123|MedGen:CN230736|MedGen:CN517202;CLNDN=Noonan_syndrome_5|Noonan_syndrome|Rasopathy|Primary_familial_hypertrophic_cardiomyopathy|Inborn_genetic_diseases|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12604189G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164760.0002|UniProtKB_(protein):P04049#VAR_037814|ClinGen_RASopathy_Variant_Curation_Expert_Panel:563677cb-406b-41f7-9c7d-7fc9d73cbbe2;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=121434594 3 12604191 222774 G A . . ALLELEID=224260;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Rasopathy|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12604191G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04049#VAR_037810;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=869025501 3 12604194 44633 G T . . ALLELEID=53800;CLNDISDB=MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=LEOPARD_syndrome_2|Noonan_syndrome|Rasopathy|not_specified;CLNHGVS=NC_000003.12:g.12604194G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:65910;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397516827 3 12604195 504514 A C . . ALLELEID=496336;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12604195A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=3730271 3 12604195 40601 A T . . ALLELEID=49071;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12604195A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:70e55828-a26c-447c-863d-156419f819e2;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=3730271 3 12604200 13957 G A . . ALLELEID=28996;CLNDISDB=.|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0014396,MedGen:C4014656,OMIM:615916|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN235283|MedGen:CN517202;CLNDN=RAF1-related_disorders|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Adenocarcinoma_of_stomach|Neoplasm_of_the_large_intestine|Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome_1|Noonan_syndrome_5|LEOPARD_syndrome_2|Cardiomyopathy,_dilated,_1NN|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|none_provided|not_provided;CLNHGVS=NC_000003.12:g.12604200G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04049#VAR_037808|OMIM_Allelic_Variant:164760.0001|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:68657|ClinGen_RASopathy_Variant_Curation_Expert_Panel:6eb64962-8efe-49ca-a5e1-499e4cddd80f;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=35;RS=80338796 3 12604201 40600 A G . . ALLELEID=49070;CLNDISDB=Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Melanoma|Noonan_syndrome|Rasopathy|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000003.12:g.12604201A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:a0bdf58d-d601-4924-95a5-27039f763685;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=727505017 3 12604202 40599 C A . . ALLELEID=49069;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12604202C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:4f1ea3bf-fe0e-4be0-bb44-c2fbf8522598|UniProtKB_(protein):P04049#VAR_037807;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397516826 3 12606195 44630 A G . . AF_ESP=0.00015;AF_EXAC=0.00011;ALLELEID=53797;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12606195A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:347868b5-7cc2-4bd0-ba83-bc69847e7691|Illumina_Laboratory_Services,Illumina:262048;GENEINFO=RAF1:5894;MC=SO:0001627|intron_variant;ORIGIN=1;RS=371846795 3 12606242 44629 A G . . AF_EXAC=0.00003;ALLELEID=53796;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Rasopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12606242A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:424749f9-713c-4d2c-9ad5-fb564c0ec802;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397516823 3 12608762 448929 T C . . AF_EXAC=0.00068;AF_TGP=0.00060;ALLELEID=442523;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000003.12:g.12608762T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:e521ccdb-9cc3-4dbc-8325-1408912d06a0;GENEINFO=RAF1:5894;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201776526 3 12612058 40588 T C . . AF_ESP=0.00008;AF_EXAC=0.00026;AF_TGP=0.00060;ALLELEID=49058;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Rasopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000003.12:g.12612058T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:bf556c8c-6cec-4e49-b9c7-2d92535a28ae;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=184022679 3 12618597 343103 G A . . AF_EXAC=0.00026;ALLELEID=289332;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12618597G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:720999|ClinGen_RASopathy_Variant_Curation_Expert_Panel:da2fd72c-d28d-424b-92b6-eb26ccf60d9f;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=11549992 3 12618597 229175 GC AT . . ALLELEID=229019;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12618597_12618598delinsAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:919f50ca-3d8b-43ff-8ea0-a44b985bc2e3|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:992006;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876657965 3 12618598 448930 C T . . AF_EXAC=0.00026;ALLELEID=442524;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_provided;CLNHGVS=NC_000003.12:g.12618598C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:751d9970-bb11-4fb7-b5b2-153cc27ddc68|Illumina_Laboratory_Services,Illumina:721001;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=200856000 3 12618603 40585 C T . . AF_EXAC=0.00093;AF_TGP=0.00040;ALLELEID=49055;CLNDISDB=MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome_1|Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|Cardiovascular_phenotype|none_provided|not_provided;CLNHGVS=NC_000003.12:g.12618603C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:737660|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:RAF1-A1|ClinGen_RASopathy_Variant_Curation_Expert_Panel:e3a025b8-32a2-4d0f-92e0-d44516304ddc;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=192632236 3 12618628 40584 T C . . AF_ESP=0.00015;AF_EXAC=0.00011;ALLELEID=49054;CLNDISDB=MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12618628T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:1128f941-c33c-438d-a44d-f5a0c76c3440;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=372738063 3 12618656 40583 A C . . AF_EXAC=0.00004;ALLELEID=49053;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000003.12:g.12618656A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:f0461c83-c8eb-4af2-abbc-482d7a9b30f5;GENEINFO=RAF1:5894;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397516824 3 12663990 40576 C G . . ALLELEID=49046;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12663990C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:107028|ClinGen_RASopathy_Variant_Curation_Expert_Panel:6bd24f02-d79a-47d5-8942-35606edcf339;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=547543588 3 12664053 40575 C T . . AF_TGP=0.00220;ALLELEID=49045;CLNDISDB=MONDO:MONDO:0012690,MedGen:C1969057,OMIM:611553|MONDO:MONDO:0012691,MedGen:C1969056,OMIM:611554|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_5|LEOPARD_syndrome_2|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000003.12:g.12664053C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:449899|ClinGen_RASopathy_Variant_Curation_Expert_Panel:8ca8203f-7106-4509-94f8-6bfbd5481879;GENEINFO=RAF1:5894;MC=SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=116247741 3 12664121 40573 ACT A . . ALLELEID=49043;CLNDISDB=MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Rasopathy|not_specified;CLNHGVS=NC_000003.12:g.12664123TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:bb1a1ba7-e80d-43d8-8451-8dea25906f40|Illumina_Laboratory_Services,Illumina:666039;GENEINFO=RAF1:5894;ORIGIN=1;RS=527774250 3 36988684 89594 C A . . AF_TGP=0.40395;ALLELEID=95068;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36988684C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-4864C>A;GENEINFO=MLH1:4292|EPM2AIP1:9852;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=9311149 3 36993163 89592 CGCTCTGCGCCAGATCACCTCAGCAGAGGCACACAAGCCCGGTTCCGGCATCTCTGCTCCTATTGGCTGGATATTTCGTATTCCCCGAGCTCCTAAAAACGAACCAATAGGAAGAGCGGACAGCGATCTCTAACGCGCAAGCGCATATCCTTCTAGGTAGCGGGCAGTAGCCGCTTCAGGGAGGGACGAAGAGACCCAGCAACCCACAGAGTTGAGAAATTTGACTGGCATTCAAGCTGTCCAATCAATAGCTGCCGCTGAAGGGTGGGGCTGGATGGCGTAAGCTACAGCTGAAGGAAGAACGTGAGCACGAGGCACTGAGGTGATTGGCTGAAGGCACTTCCGTTGAGCATCTAGACGTTTCCTTGGCTCTTCTGGCGCCAAAATGTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAACTGGTACGGAGGGAGTCGAGCCGGGCTCACTTAAGGGCTACGACTTAACGGGCCGCGTCACTCAATGGCGCGGACACGCCTCTTTGCCCGGGCAGAGGCATGTACAGCGCATGCCCACAACGGCGGAGGCCGCCGGGTTCCCTGACGTGCCAGTCAGGCCTTCTCCTTTTCCGCAGACCGTGTGTTTCTTTACCGCTCTCCCCCGAGACCTTTTAAGGGTTGTTTGGAGTGTAAGTGGAGGAATATACGTAGTGTTGTCTTAATGGTACCGTTAACTAAGTAAGGAAGCCACTTAATTTAAAATTATGTATGCAGAACATGCGAAGTTAAAAGATGTATAAAAGCTTAAGATGGGGAGAAAAACCTTTTTTCAGAGGGTACTGTGTTACTGTTTTCTTGCTTTTCATTCATTCCAGAAATCATCTGTTCACATCCAAAGGCACAATTCATTTTGAGTTTCTTTCAAAACAAATCGTTTGTAGTTTTAGGACAGGCTGATGCACTTTGGGCTTGACTTCTGATTACCCTATTGTTAAATTAGTGACCCCTCTTAGTGTTTTCCTGTCCTTTATTTCGGAGGACGCACTTCGAAGATACCAGATTTTATGGGTCATCCTTGGATTTTGAAGCTTATAACTGTGACAAAAAATGTGAAGGGAAGAGATTTGAAACATGTGGAAGGAAAAGTGAGTGCAGACTATAAACTTCCAAAAAGACAAGCCCAAAATACACCTAAACGTTATGTCAGATTATTTTGTTAAAATCAGTTGTTAGTGACGTCCGTACGTTAATAGAAAAAAGAATGCTTCAGTTTGGAGTGGTAGGTTTCTAGAGGGATTTATTGTGAAAGTATAAACTATTCAGGGCAATGGGACTGAGAGAACAGTGGGTAGAAAGGACCACTGAAGGAAAGGAAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTGTCAAAACTCTCGATCTCAGGTGAACCGCCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCAGTTTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATTTCCTGACCTCAGGTGATCTGCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCGCGCCCGGCTCAAGTGGAGATTTTTATATGGAGTCCAGTTATACTCTTTTTAATATATAAGTTGAGATGACTAATACAACTTCAATACAGGGGCTCATGAGAAATGTCTGTAATATTTAAGTAACTTATTGTCTTCTTTCTTTTTTTTTTAAGATGAAGTCTTACTCTGTTGCCCAGGCGGAAGTGCAGTGGCGTGATCTTGGCTCAGGGCAACCTCTGCCTCCTGGTTTCAAGCGATCTTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGTGCATGACCACACCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCGGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCCAAGTGTTGGGATTACAGGTGTGAGCCCCCGTGCCCAGCCTATTATCTTATTTCTGAATAAAGAATTGTCTGTGTGGGGAATAGATAACTCTTTCTCATGCAGCCCCTGCTAGAAAATTTGTTTTCTCTAGCAGTTGGTCTGTGCTTATAGGCTACTCTTTGAAAGCACAAAAAATTTATTGACTTCTTTTTTTTGGGTTTTTTTTTTTTTTTGAGACAGAGTTTTGCCCTTGTTGCCCAGGTTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGTCACCATGCCTGGCTAATTTTGTATTTTTAGTACAAATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGTGTGAGCCATTGCGCCTGGCCAGAAAATTCATTGACTTCCTAAAGATTTATTAACTTTCTGCATTACTTTTTTTTTTCCCCTCCATCGTAAATATAAAAGGGAATAGTAGAGAAAATCATTCAGAATTTTATTTTTTAGTGACATTATTTAGTGACATTTTATTAGAGTCACTTAGGAACCTGAGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTATTTTTAACTTCACTTGCTGTCTTTCCTAGAGGAACAGAAATAGTGCTGAATGTCCTATTAGAAATGATGGTTGCTCTGCCCGTCTCTTCCCTCTCTCTCACACAATATGTAAACTCATACAGTGTATGAGCCTGTAAGACAAAGGAAAAACACGTTAATGAGGCACTATTGTTTGTATTTGGAGTTTGTTATCATTGCTTGGCTCATATTAAAATATGTACATTAGAGTAGTTGCAGACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCAGGATGTTTGTGCGCTTCATGGAAGAGTCAGGACCTTTCTCTGTTCTGGAAACTAGGCTTTTGCAGATGGGATTTTTTCACTGAAAAATTCAACACCAACAATAAATATTTATTGAGTACCTATTATTTGCTGGGCACTGTTCAGGGGATGTGTCAGTGAATAAAATAGATTAAAATCTATTCTCTTCTGATGCTTACATTATAGTGGTGGGAGACAAAATGGGTATAATAAATATTATATTAGATAGCATTAAGTGCTGTGGAGAAAACTAAAGCAGGGAGGAAGATAGGAGTGTGCAAGCCAGAAAGGTTGCAATTAAATTGAGTAGTTCAGGAAGGCTTCAATATGGATGTGATATTTGAGAGACCGGTGGAAGTCAAGGAGCAAGTTGTGAGGCTATTTAAAGGTATTCTTGGCTTACAGAACAATATACGCAAAGACTATTAAATGGAAGCATACCTGACATGTTAAAGGACTATCAAGGAGGCCAGTTTGTCTAGAGGCTGAAAAGGAAAGAGTAATAGGAGATGAGGTCTGAGTGAAAACACGTAAATCCTTGTGGGCCAAGGTAAAATCTTTA C . . ALLELEID=95066;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993167_36997315del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-381_207+606del|MLH1_homepage_-_Colon_cancer_gene_variant_databases:MLH1_000944;GENEINFO=MLH1:4292;MC=SO:0002153|genic_upstream_transcript_variant;ORIGIN=1 3 36993279 89588 C G . . AF_TGP=0.00200;ALLELEID=95062;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993279C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-269C>G;GENEINFO=MLH1:4292;ORIGIN=1;RS=35032294 3 36993441 89587 C G . . ALLELEID=95061;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310;CLNDN=Lynch_syndrome|Lynch_syndrome_II;CLNHGVS=NC_000003.12:g.36993441C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:604249|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-107C>G;GENEINFO=MLH1:4292;ORIGIN=1;RS=587778886 3 36993455 89600 G A . . AF_TGP=0.32049;ALLELEID=95074;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.36993455G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:120436.0026|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-93G>A_1|Illumina_Laboratory_Services,Illumina:55874;GENEINFO=MLH1:4292;ORIGIN=1;RS=1800734 3 36993548 89994 A G . . ALLELEID=95468;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993548A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1A>G_1;GENEINFO=MLH1:4292;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778967 3 36993549 90134 T A . . ALLELEID=95608;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993549T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2T>A;GENEINFO=MLH1:4292;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=111052004 3 36993549 90135 T C . . ALLELEID=95609;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:CN517202;CLNDN=Lynch_syndrome_I|not_provided;CLNHGVS=NC_000003.12:g.36993549T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2T>C;GENEINFO=MLH1:4292;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=111052004 3 36993549 90136 T G . . ALLELEID=95610;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.36993549T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2T>G;GENEINFO=MLH1:4292;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=111052004 3 36993550 90211 G A . . ALLELEID=95685;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993550G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3G>A;GENEINFO=MLH1:4292;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=72481822 3 36993552 90295 C A . . ALLELEID=95769;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993552C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.5C>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779029 3 36993555 90462 TC T . . ALLELEID=95936;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993556del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.9del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750745 3 36993558 89800 TGGCAGGGGTTATTC T . . ALLELEID=95274;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993562_36993575del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.15_28del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751891 3 36993562 89935 AGGGGTTATTCGGCGGCT A . . ALLELEID=95409;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993565_36993581del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.18_34del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751892 3 36993565 89993 GGTTATTCGGCGGCTGGA G . . ALLELEID=95467;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993566_36993582del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.19_35del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267607702 3 36993568 90111 T TA . . ALLELEID=95585;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993569dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.22dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778996 3 36993577 90166 GC G . . ALLELEID=95640;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.31del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749816 3 36993583 90210 C CGA . . ALLELEID=95684;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993584GA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.39_40dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779013 3 36993583 90190 CG C . . ALLELEID=95664;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993584del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.37del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750081 3 36993584 90207 G GACCC . . ALLELEID=95681;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993585_36993586insCCCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.38_39insCCCA|Invitae:4841765;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750057 3 36993584 90189 G T . . ALLELEID=95663;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993584G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.37G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779008 3 36993590 90221 G GT . . ALLELEID=95695;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993591dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.44dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751131 3 36993597 90254 AC A . . ALLELEID=95728;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993599del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:11496|Invitae:4841768|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.52del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749804 3 36993602 90274 A T . . ALLELEID=95748;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993602A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.55A>T|UniProtKB_(protein):P40692#VAR_043383;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750648 3 36993606 90296 CG C . . ALLELEID=95770;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993608del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4841770|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.61del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750581 3 36993609 90297 C A . . ALLELEID=95771;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993609C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.62C>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750706 3 36993609 90298 C T . . ALLELEID=95772;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:CN517202;CLNDN=Lynch_syndrome_I|not_provided;CLNHGVS=NC_000003.12:g.36993609C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043384|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.62C>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750706 3 36993609 90332 CG C . . ALLELEID=95806;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993614del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.67del|Invitae:1161221;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750822 3 36993612 90306 G C . . AF_ESP=0.00008;AF_EXAC=0.00008;ALLELEID=95780;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.36993612G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_038023|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.65G>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=41295280 3 36993614 90331 G T . . ALLELEID=95805;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993614G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.67G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750823 3 36993616 90337 AG A . . ALLELEID=95811;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993617del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.70del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751396 3 36993619 90344 TA T . . ALLELEID=95818;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993620del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.73del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749839 3 36993620 90343 A T . . ALLELEID=95817;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993620A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043385|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.73A>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749838 3 36993621 90348 TC T . . ALLELEID=95822;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993623del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.76del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749828 3 36993623 90347 C T . . ALLELEID=95821;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|not_provided;CLNHGVS=NC_000003.12:g.36993623C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.76C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749827 3 36993624 90354 AG A . . ALLELEID=95828;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993625del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.78del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779040 3 36993630 90388 C T . . ALLELEID=95862;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993630C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.83C>T|UniProtKB_(protein):P40692#VAR_004433;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750792 3 36993630 90392 CA C . . ALLELEID=95866;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310;CLNDN=Lynch_syndrome|Lynch_syndrome_II;CLNHGVS=NC_000003.12:g.36993631del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.84del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779045 3 36993633 90403 C G . . ALLELEID=95877;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000003.12:g.36993633C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.86C>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750216 3 36993645 89609 AAG A . . ALLELEID=95083;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993647GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.102_103del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749813 3 36993651 89631 T G . . ALLELEID=95105;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.36993651T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.104T>G|UniProtKB_(protein):P40692#VAR_004434;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749906 3 36993651 89632 T TAA . . ALLELEID=95106;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993651_36993652insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.104_105insAA;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778882 3 36993651 17105 TG AC . . ALLELEID=32144;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310;CLNDN=Lynch_syndrome|Turcot_syndrome|Lynch_syndrome_II;CLNHGVS=NC_000003.12:g.36993651_36993652delinsAC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=OMIM_Allelic_Variant:120436.0028;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121912965 3 36993656 89641 G T . . ALLELEID=95115;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36993656G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.109G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751012 3 36993659 89645 A C . . ALLELEID=95119;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993659A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043389|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.112A>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750580 3 36993660 89648 A G . . ALLELEID=95122;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993660A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.113A>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778888 3 36993661 561169 C A . . ALLELEID=552279;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.36993661C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267607706 3 36993661 89651 C G . . ALLELEID=95125;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36993661C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.114C>G_1|UniProtKB_(protein):P40692#VAR_076340;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267607706 3 36993663 89662 G A . . ALLELEID=95136;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993663G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.116G>A_1|Mayo_Clinic_Laboratories,Mayo_Clinic:148;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751701 3 36993663 89663 G T . . ALLELEID=95137;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.36993663G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.116G>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751701 3 36993664 89656 G A . . ALLELEID=95130;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MedGen:CN517202;CLNDN=Lynch_syndrome|Turcot_syndrome|Lynch_syndrome_II|not_provided;CLNHGVS=NC_000003.12:g.36993664G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.116+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267607709 3 36993668 89658 G C . . ALLELEID=95132;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36993668G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.116+5G>C;GENEINFO=MLH1:4292;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607710 3 36995927 89666 GATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGTCACCATGCCTGGCTAATTTTGTATTTTTAGTACAAATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGTGTGAGCCATTGCGCCTGGCCAGAAAATTCATTGACTTCCTAAAGATTTATTAACTTTCTGCATTACTTTTTTTTTTCCCCTCCATCGTAAATATAAAAGGGAATAGTAGAGAAAATCATTCAGAATTTTATTTTTTAGTGACATTATTTAGTGACATTTTATTAGAGTCACTTAGGAACCTGAGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTATTTTTAACTTCACTTGCTGTCTTTCCTAGAGGAACAGAAATAGTGCTGAATGTCCTATTAGAAATGATGGTTGCTCTGCCCGTCTCTTCCCTCTCTCTCACACAATATGTAAACTCATACAGTGTATGAGCCTGTAAGACAAAGGAAAAACACGTTAATGAGGCACTATTGTTTGTATTTGGAGTTTGTTATCATTGCTTGGCTCATATTAAAATATGTACATTAGAGTAGTTGCAGACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCAGGATGTTTGTGCGCTTCATGGAAGAGTCAGGACCTTTCTCTGTTCTGGAAACTAGGCTTTTGCAGATGGGATTTTTTCACTGAAAAATTCAACACCAACAATAAATATTTATTGAGTACCTATTATTTGCTGGGCACTGTTCAGGGGATGTGTCAGTGAATAAAATAGATTAAAATCTATTCTCTTCTGATGCTTACATTATAGTGGTGGGAGACAAAATGGGTATAATAAATATTATATTAGATAGCATTAAGTGCTGTGGAGAAAACTAAAGCAGGGAGGAAGATAGGAGTGTGCAAGCCAGAAAGGTTGCAATTAAATTGAGTAGTTCAGGAAGGCTTCAATATGGATGTGATATTTGAGAGACCGGTGGAAGTCAAGGAGCAAGTTGTGAGGCTATTTAAAGGTATTCTTGGCTTACAGAACAATATACGCAAAGACTATTAAATGGAAGCATACCTGACATGTTAAAGGACTATCAAGGAGGCCAGTTTGTCTAGAGGCTGAAAAGGAAAGAGTAATAGGAGATGAGGTCTGAGTGAAAACACGTAAATCCTTGTGGGCCAAGGTAAAATCTTTAGCTTTTTTTCTGAATATGGTGGGATACTGTTAGAGGGTTTTAAGCAGAGGTTACGTGGTGTGGTGAGTTTTTTTTTTTTAATCCTTTGTCTTTCTGTGTGGAAAATAGCAGGACAGGGCAGAAGCAGTCTGTCCTGCAGACTGCTTGGTCGCAGTAGAGATGTAAGAAGCAGTGAGATTCTGGGTTAATTATGGAGGCAAAGTTCTCAGAATTTGCTGATATAGGGTATGAGAGAAAGAGGAATCAGGAATGATTTCAAGGTTTTGGTCTGCTAAATGGAAGGAGTTGCCATTTACTAAGATGGGAAAGACTATGAAAGAAGCAGATTTTCAGAGAGATCAGAAGTTCATTTTGGGGCATGTTCAATTTAAGATGCCTGTTAGTTGGATGTTTATGTGAGTTTGGAATGCAGGGTAGAGATTTAGGGATGAATATTTGGTAGTTGTCTGCATTTTAATGGTATTAAAAGCCACGAGAAGGATGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATATAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGATGAGCCGAGATCGCACCGTTGCACTCCAGCTTGGGCAACAAGAGCAAAACTCCATCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTTGAGACTCACCTGAAAAGATGCTCAACATTATTGGTCATTAGGAAAATGAATGAAAACCACAATGAGATACCACTTCACACCTATTAGGATGGCTATTATCAAAAACAAAAACAAGTGTTTGCAAGGATGTAGAGATTGGAATTCTTGTGTATTGCTAGAGGGAATGTAAAATAGTGCAGGGTGCTGTGGAAAATGCTGTGGTGATTCCTCAAAAAATTAAACATAATTATATAATCCAGTAATTCCACTTCTGAGTTATTCCCAAAAGAAGGGATGCAAGCAGATATTTGTACACTCATATTCATGGCAGCATTATTTACAGTAGCCAAAAGGTGAAAGCAACCTAAGTGTCCGTCAGTGGATGAATGGATAAACAAAATGGAATAATTTCAGCCTTAAATAGAAATAAAATGTTGACACATGTTGCAACATATACGAACCTTGAAGACATCATGTTAAGTTAAATAAGTTGGTCACTAAAGGACAAATATTGTATGATTCCCCTTATGAGGTTCCTAGAGTAGTCACATTCATAGAGACAGTAGAGTGGTGGTTGCCCAGGGCCGGGGGGAGCGAGGAGAATGGAAATTATTGTTTATTGGGTACAGAGTTTCTGTTTGGGGAAGATGAAAAAATTCTGGAGATGGATCATGATGATAGTTAACACAGCAGTGTGAATATAGTTAATGGCACAGAACTGTACATTTAAAAATGGTTAAGATGGAAAATTTTCTGTTACATATATTTTACTGCAATTTTTTTAAATTTTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAAGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTCGAGAAGTGTCTGTTCATATCCTTCACTCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGAGTTCATTGAAAAATTAGAATTTTTTTTTTTTTCCCTTTTTTAGAGGCAAGGTCTCACTCTGTCGCCCACACTGGAGTGCAGTAGTGTAAGCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAATTCTGTCATCTCAGCCAGCTGAAGTAGTAACTGTAGGTTCACACCACCATGCCTATTTTTGTTTTTGTAGAAATAGGGCCTTGCTTTGTTGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGCAGTCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCCAGCCTTGGAGATTTTTAATAAAGAAGCTTGTCAATTAAACAAACAACAAAAAGCCCTGAGACTGAATGAGATAATCAAGAGAGTATGTGTAGATAGAGAAGAGGTCCAAGGAAGGAGTCTTGGGTGACTCTGATGTCAAGTGAGGACATGAGGCAGAAACAGCAGTGACTGAGAAGGAGCCACCTAGTAAGAAAGGAGGAACACCAGGACAGTGTGGTATTCTGGATTCCAAACAAGGAAGTTACTGCTAATTTTAAAGCTCTTCTCAGGCTGGGCATGGTGGCTCACACCTGTAGTCCCAGCACTTCGGGAGGCTGAGGTAGGTAAATCACTTGAGCTCATGTGTTTGAGACCAGCTTGGGCAACATGGTGAAACCTCATCTCTACTAAAAATATAAGAAATTAAGGCCAGGTGTGGTAGTTCATGCCTGTAATCCCAGTGCTTTGGGAGGTCAAGGCAGCCAGATCATTTGAGATCAGGAGTTCGAGACCAGCATGGCCAGCATAGTGAAGCCCCATCTCTACTAAAAATACAAGAAAAAATTAACCAAGCATGGTGGCGCATACCTGTAATCCCAGCCACTCTGGAGGCTGAGACATGAAAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACAAAAACCAAGAAAAGAAAAAAAAACTCTTCTAAGAGGATTTTTTTTTCCTGGATTAAATCAAGAAAATGGGAATTCAAAGAGATTTGGAAAAATGAGTAACATGATTATTTACTCATCTTTTTGGTATCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCTTTGAGGATTTAGCCAGTATTTCTACCTATGGCTTTCGAGGTGAGGTAAGCTAAAGATTCAAGAAATGTGTAAAATATCCTCCTGTGATGACATTGTCTGTCATTTGTTAGTATGTATTTCTCAACATAGATAAATAAGGTTTGGTACCTTTTACTTGTTAAATGTATGCAAATCTGAGCAAACTTAATGAACTTTAACTTTCAAAGACTGAGAATTGTTCATAAATAAACTATTTTACCTGCAGAGACCTCTGATATATGTTTCTTGATGGAAGTACCCAGTACCACCTATGAAGTTTTCTTGTCAAAAAATCAAATGTGAATCTGATCATTACTTAGATCTAAGTACCAATATATGAAAAATATAGGAGACAAGGAAGCATGGTAAATGATACTGAGATTGGGAGACTACATGGAAAAAGACTTGTTCCCTTCAACAGATAGACAGCAGGGAAAAAAGAATAGAGAAAGGAGTAAAGAACCTGTAGATTAAAAGACATTTAAGGGACATATGAACCAGGTCCAGTGTATAGATCTTACCTAAATCCTGATGGAGCAAACTATAAAAAAATTTTTTTGAGACAAATGTTTGAATACAGGTTGACTATTTGATGGCATTAAGGAGAAATTATGAATTATCTTGGTATAAGAATATTGTCATGGGTTTTTTTTTTTGAGTCCTTACCTGTTAAGATACATACTAAAATATTTGTGGGTAAAATTATATGACGTATAGGAGTATATGATTTAGAAAACGGATTAAAATATAAAAGGATAAAATAGGATCTTATATTTTGTGACTCACTTCCTGTTGGATATCTTTCTACCCAGTAAATATAGTCCTATCTAGGTTTTAATGGCTACATGTATGTACTGTAGTTTGTTTAAATGGTTTCCTATTGAACATTTATGCTCTTTGCCATTTTTTCCTGTTTAACGTTCTGTTTTTTTTTTTGTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTTATCCAGACTGGAGTGCAGTGACATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCTA G . . ALLELEID=95140;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36995928_37002064del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.117-691_306+1011del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant;ORIGIN=1 3 36996572 89665 TTAGAG T . . ALLELEID=95139;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.36996576_36996580del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.117-43_117-39del;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587778895 3 36996617 142856 A G . . ALLELEID=152570;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36996617A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607712 3 36996618 561170 G T . . ALLELEID=552280;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.36996618G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779950 3 36996618 89676 GT G . . ALLELEID=95150;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36996621del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:302470|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.119del_1;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778896 3 36996623 89682 G C . . ALLELEID=95156;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:CN517202;CLNDN=Lynch_syndrome_I|not_provided;CLNHGVS=NC_000003.12:g.36996623G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_054522|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.121G>C;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607713 3 36996624 89684 A G . . ALLELEID=95158;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36996624A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.122A>G|UniProtKB_(protein):P40692#VAR_043390;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751094 3 36996629 89692 A AAATC . . ALLELEID=95166;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996630_36996633dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.128_131dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751431 3 36996633 17079 C T . . ALLELEID=32118;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MedGen:CN517202;CLNDN=Lynch_syndrome|Muir-Torré_syndrome|Lynch_syndrome_II|not_provided;CLNHGVS=NC_000003.12:g.36996633C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_004436|OMIM_Allelic_Variant:120436.0002|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.131C>T_1;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751109 3 36996644 89738 C T . . ALLELEID=95212;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MedGen:C0009405|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Muir-Torré_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000003.12:g.36996644C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.142C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778913 3 36996645 89739 A C . . ALLELEID=95213;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36996645A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.143A>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778914 3 36996648 89749 T A . . ALLELEID=95223;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996648T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.146T>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750098 3 36996650 89756 A AT . . ALLELEID=95230;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996652dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.150dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749956 3 36996653 89763 G GT . . ALLELEID=95237;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996655dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.153dup;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778922 3 36996655 89794 T TA . . ALLELEID=95268;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36996658dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.156dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750028 3 36996655 89793 TA T . . ALLELEID=95267;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36996658del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.156del|Invitae:1442849;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750028 3 36996655 89790 TAAAG T . . ALLELEID=95264;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.36996657_36996660del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.155_158del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778923 3 36996658 89805 AGAGG A . . ALLELEID=95279;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996659GAGG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.161_164del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778932 3 36996660 89806 AG A . . ALLELEID=95280;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996663del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.161del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751266 3 36996676 89880 G GA . . ALLELEID=95354;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996677dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.175dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778944 3 36996686 89902 C T . . ALLELEID=95376;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36996686C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.184C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751428 3 36996691 89934 C A . . ALLELEID=95408;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996691C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.189C>A|UniProtKB_(protein):P40692#VAR_043392;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778955 3 36996691 89948 C CA . . ALLELEID=95422;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996693dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.191dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751255 3 36996691 89941 CAA C . . ALLELEID=95415;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996692_36996693del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.190_191del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750469 3 36996696 89955 G A . . ALLELEID=95429;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.36996696G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.194G>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751465 3 36996696 89958 GC G . . ALLELEID=95432;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996697del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.195del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607715 3 36996698 89982 A AC . . ALLELEID=95456;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996700dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.198dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778966 3 36996700 89981 C T . . AF_ESP=0.00062;AF_EXAC=0.00028;ALLELEID=95455;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.36996700C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:181|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.198C>T|Illumina_Laboratory_Services,Illumina:1336019|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2537295;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=61751642 3 36996700 90000 CG C . . ALLELEID=95474;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.36996703del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.201del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778968 3 36996701 89992 G A . . ALLELEID=95466;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36996701G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_004439|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.199G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:184;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=3;RS=63750206 3 36996701 17088 G T . . ALLELEID=32127;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310;CLNDN=Lynch_syndrome|Turcot_syndrome|Lynch_syndrome_II;CLNHGVS=NC_000003.12:g.36996701G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.199G>T|OMIM_Allelic_Variant:120436.0011|UniProtKB_(protein):P40692#VAR_012903;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750206 3 36996702 17106 G A . . ALLELEID=32145;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36996702G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:120436.0029|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.200G>A|UniProtKB_(protein):P40692#VAR_038024;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749939 3 36996705 90008 T A . . ALLELEID=95482;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.36996705T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_004440|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.203T>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750281 3 36996706 90015 CA C . . ALLELEID=95489;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996707del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.205del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751704 3 36996709 90022 GGT G . . ALLELEID=95496;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996710_36996711del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.207+1_207+2del;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607719 3 36996710 90020 G A . . ALLELEID=95494;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.36996710G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:187|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.207+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607718 3 36996710 90021 G T . . ALLELEID=95495;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36996710G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.207+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607718 3 36996711 90023 T C . . ALLELEID=95497;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.36996711T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:5727|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.207+2T>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607722 3 36997280 90024 C T . . AF_TGP=0.30871;ALLELEID=95498;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.36997280C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.207+571C>T;GENEINFO=MLH1:4292;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=9852378 3 36999241 90028 TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAAGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTCGAGAAGTGTCTGTTCATATCCTTCACTCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGAGTTCATTGAAAAATTAGAATTTTTTTTTTTTTCCCTTTTTTAGAGGCAAGGTCTCACTCTGTCGCCCACACTGGAGTGCAGTAGTGTAAGCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAATTCTGTCATCTCAGCCAGCTGAAGTAGTAACTGTAGGTTCACACCACCATGCCTATTTTTGTTTTTGTAGAAATAGGGCCTTGCTTTGTTGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGCAGTCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCCAGCCTTGGAGATTTTTAATAAAGAAGCTTGTCAATTAAACAAACAACAAAAAGCCCTGAGACTGAATGAGATAATCAAGAGAGTATGTGTAGATAGAGAAGAGGTCCAAGGAAGGAGTCTTGGGTGACTCTGATGTCAAGTGAGGACATGAGGCAGAAACAGCAGTGACTGAGAAGGAGCCACCTAGTAAGAAAGGAGGAACACCAGGACAGTGTGGTATTCTGGATTCCAAACAAGGAAGTTACTGCTAATTTTAAAGCTCTTCTCAGGCTGGGCATGGTGGCTCACACCTGTAGTCCCAGCACTTCGGGAGGCTGAGGTAGGTAAATCACTTGAGCTCATGTGTTTGAGACCAGCTTGGGCAACATGGTGAAACCTCATCTCTACTAAAAATATAAGAAATTAAGGCCAGGTGTGGTAGTTCATGCCTGTAATCCCAGTGCTTTGGGAGGTCAAGGCAGCCAGATCATTTGAGATCAGGAGTTCGAGACCAGCATGGCCAGCATAGTGAAGCCCCATCTCTACTAAAAATACAAGAAAAAATTAACCAAGCATGGTGGCGCATACCTGTAATCCCAGCCACTCTGGAGGCTGAGACATGAAAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACAAAAACCAAGAAAAGAAAAAAAAACTCTTCTAAGAGGATTTTTTTTTCCTGGATTAAATCAAGAAAATGGGAATTCAAAGAGATTTGGAAAAATGAGTAACATGATTATTTACTCATCTTTTTGGTATCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCTTTGAGGATTTAGCCAGTATTTCTACCTATGGCTTTCGAGGTGAGGTAAGCTAAAGATTCAAGAAATGTGTAAAATATCCTCCTGTGATGACATTGTCTGTCATTTGTTAGTATGTATTTCTCAACATAGATAAATAAGGTTTGGTACCTTTTACTTGTTAAATGTATGCAAATCTGAGCAAACTTAATGAACTTTAACTTTCAAAGACTGAGAATTGTTCATAAATAAACTATTTTACCTGCAGAGACCTCTGATATATGTTTCTTGATGGAAGTACCCAGTACCACCTATGAAGTTTTCTTGTCAAAAAATCAAATGTGAATCTGATCATTACTTAGATCTAAGTACCAATATATGAAAAATATAGGAGACAAGGAAGCATGGTAAATGATACTGAGATTGGGAGACTACATGGAAAAAGACTTGTTCCCTTCAACAGATAGACAGCAGGGAAAAAAGAATAGAGAAAGGAGTAAAGAACCTGTAGATTAAAAGACATTTAAGGGACATATGAACCAGGTCCAGTGTATAGATCTTACCTAAATCCTGATGGAGCAAACTATAAAAAAATTTTTTTGAGACAAATGTTTGAATACAGGTTGACTATTTGATGGCATTAAGGAGAAATTATGAATTATCTTGGTATAAGAATATTGTCATGGGTTTTTTTTTTTGAGTCCTTACC ACATAGTA . . ALLELEID=95502;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.36999241_37001694delinsACATAGTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.208-1714_306+641delins;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant,SO:0001627|intron_variant;ORIGIN=1 3 37000952 90032 C G . . ALLELEID=95506;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37000952C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.208-3C>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=3;RS=267607720 3 37000952 90030 CAG C . . ALLELEID=95504;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37000954_37000955del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.208-1_208del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778973 3 37000952 90061 CAGAA C . . ALLELEID=95535;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37000953AGAA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.210_213del|Invitae:4631031;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607723 3 37000953 90031 A G . . ALLELEID=95505;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37000953A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.208-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607716 3 37000954 90029 G A . . ALLELEID=95503;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37000954G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.208-1G>A;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607717 3 37000955 90067 AAAG A . . ALLELEID=95541;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37000957AGA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=OMIM_Allelic_Variant:120436.0023|MLH1_homepage_-_Colon_cancer_gene_variant_databases:MLH1_000141|Invitae:4277567|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.213_215del;GENEINFO=MLH1:4292;MC=SO:0001822|inframe_deletion,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751642 3 37000958 90063 G T . . ALLELEID=95537;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37000958G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.211G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749829 3 37000975 90113 ATG A . . ALLELEID=95587;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37000976TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.231_232del;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750052 3 37000976 90110 T C . . ALLELEID=95584;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|not_provided;CLNHGVS=NC_000003.12:g.37000976T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_004442|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.229T>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749859 3 37000977 90112 G A . . ALLELEID=95586;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37000977G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.230G>A|UniProtKB_(protein):P40692#VAR_012904|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_739;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750437 3 37000978 90114 TG T . . ALLELEID=95588;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37000979del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.232del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778997 3 37000985 90115 T G . . ALLELEID=95589;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37000985T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.238T>G|UniProtKB_(protein):P40692#VAR_012905;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749990 3 37000990 90117 T TA . . ALLELEID=95591;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37000991dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.244dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607729 3 37000991 90116 A G . . AF_EXAC=0.00001;ALLELEID=95590;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000003.12:g.37000991A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.244A>G|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1786447;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778998 3 37000992 90118 C T . . ALLELEID=95592;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37000992C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A1|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.245C>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750005 3 37000997 90120 A G . . ALLELEID=95594;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37000997A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_012906|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.250A>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750641 3 37001003 90121 C T . . ALLELEID=95595;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37001003C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.256C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751421 3 37001006 90123 TC T . . ALLELEID=95597;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37001008del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.261del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607728 3 37001012 90124 G T . . ALLELEID=95598;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37001012G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.265G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=11541859 3 37001037 90130 ATGGCTTTCGAGG A . . ALLELEID=95604;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37001040_37001051del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.293_304del;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant,SO:0001822|inframe_deletion,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751691 3 37001045 36550 C T . . ALLELEID=45212;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37001045C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.298C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=3;RS=63751221 3 37001046 90133 G C . . ALLELEID=95607;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:CN517202;CLNDN=Lynch_syndrome_I|not_provided;CLNHGVS=NC_000003.12:g.37001046G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.299G>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750266 3 37001048 90137 G A . . ALLELEID=95611;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37001048G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_054524|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.301G>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607726 3 37001049 90138 G A . . ALLELEID=95612;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37001049G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.302G>A|UniProtKB_(protein):P40692#VAR_022664;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607727 3 37001050 90140 T G . . AF_EXAC=0.00273;AF_TGP=0.00639;ALLELEID=95614;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37001050T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:786404|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2610304|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.303T>G;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4647220 3 37001051 90141 G A . . ALLELEID=95615;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37001051G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043394|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852453|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.304G>A_1;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750453 3 37001053 232603 G A . . ALLELEID=232890;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37001053G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751665 3 37001053 90150 G C . . ALLELEID=95624;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37001053G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.306G>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751665 3 37001053 90151 G T . . ALLELEID=95625;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37001053G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.306G>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751665 3 37001054 90142 G A . . ALLELEID=95616;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Muir-Torré_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37001054G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.306+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607734 3 37001054 90143 G GT . . ALLELEID=95617;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37001055dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.306+2dup;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607738 3 37001057 90147 A G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=95621;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37001057A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.306+4A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607733 3 37001058 90148 G A . . ALLELEID=95622;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37001058G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.306+5G>A|OMIM_Allelic_Variant:120436.0032|Mayo_Clinic_Laboratories,Mayo_Clinic:197;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607735 3 37001469 90146 A C . . AF_TGP=0.24501;ALLELEID=95620;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37001469A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.306+416A>C;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4647222 3 37002980 90153 TCACTGTAATTATACAGGAAGATTTATTGAGGGATTTCTGTGTACCAGCCGTGGTTCTCAGCACTTTGTATACTTTGTATTAACTCTGACTCCTGACAGTAACTCTACAGAGGTTCTGCTGTTACCCAGTTTTACATAGAAACATGGCCAGCGGACGCAGTTAGAAAATGGCAAAGTGGGGATTAGAAACTAGGCAGTTTGACTCCAGAGTCTGTGCCCCTGTCCACTTGGCTCCACTGCTGGGGAAGAGGCCTCTGAAGCAGCAGGACCATCTGCTGTGCCGTGTGTAGTGGTACTCTATCTTCCTGGTGTGATGTTGTGTTCTACTTTGCATTTTCATGTCTTTCCTTATACAGGTCTCAAAATCATTTACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTAGAGTGTAGTGGCATAGTCTCACTCACTGCAACCTCCGCCTCCGAGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTCGGATTACAGGCACATGCCACCACAGCTAGCAAATTTTTGTATTTTTAGTAGAGATTGGTGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCACCCAGCCTTATATTTTTTAATGATGCACATTAGCTCAATTACATAAACCAGGGAAATCCAGCTAGGACCTGGTGATTTCTGAGCCTGACCCATGTGACTTTCAATGAACTGAACTTGCCACAGCTGTATTTACTGTCTACTGAGATGCTGTCACACAGACCCCGTCATAGCACAGTTCCTGAGTTACATCTTTACATACTGTAGTATCCTTCTTGTGAAAAAAGATACAGATTCCAAAGGTCTGAGAAACCAATCTTGGTTATAAAGGGGAAAAATGGTCATGGGTTTTTAAAATTTGTTTTGTCTTAATTGCATTTCAAATTTACATTTCTAAATGAATAATTGCTTATATAAAGCAGTTTTGATTAACAATATAAAACACTATCTATTTGGAGTGATTCCTTTACCCATTTCTGAAGGCAAGTTTTAAAAATTACTAGAAGACACTTCATTGAGAATATTATTAAACATGCCTATAGTTCTACCACCTCAACACAATTGCTTATTAACACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCAC T . . ALLELEID=95627;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37002981_37005098del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-1420_380+624del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 3 37002998 90152 A T . . AF_TGP=0.18690;ALLELEID=95626;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37002998A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-1403A>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1540354 3 37003580 90159 TGACCTCAGGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCACCCAGCCTTATATTTTTTAATGATGCACATTAGCTCAATTACATAAACCAGGGAAATCCAGCTAGGACCTGGTGATTTCTGAGCCTGACCCATGTGACTTTCAATGAACTGAACTTGCCACAGCTGTATTTACTGTCTACTGAGATGCTGTCACACAGACCCCGTCATAGCACAGTTCCTGAGTTACATCTTTACATACTGTAGTATCCTTCTTGTGAAAAAAGATACAGATTCCAAAGGTCTGAGAAACCAATCTTGGTTATAAAGGGGAAAAATGGTCATGGGTTTTTAAAATTTGTTTTGTCTTAATTGCATTTCAAATTTACATTTCTAAATGAATAATTGCTTATATAAAGCAGTTTTGATTAACAATATAAAACACTATCTATTTGGAGTGATTCCTTTACCCATTTCTGAAGGCAAGTTTTAAAAATTACTAGAAGACACTTCATTGAGAATATTATTAAACATGCCTATAGTTCTACCACCTCAACACAATTGCTTATTAACACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGGCTGCAGTGAGCTGTGATTACACCACTGTACTCCA T . . ALLELEID=95633;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37003581_37005370del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-820_380+896del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 3 37003588 90158 GGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCACCCAGCCTTATATTTTTTAATGATGCACATTAGCTCAATTACATAAACCAGGGAAATCCAGCTAGGACCTGGTGATTTCTGAGCCTGACCCATGTGACTTTCAATGAACTGAACTTGCCACAGCTGTATTTACTGTCTACTGAGATGCTGTCACACAGACCCCGTCATAGCACAGTTCCTGAGTTACATCTTTACATACTGTAGTATCCTTCTTGTGAAAAAAGATACAGATTCCAAAGGTCTGAGAAACCAATCTTGGTTATAAAGGGGAAAAATGGTCATGGGTTTTTAAAATTTGTTTTGTCTTAATTGCATTTCAAATTTACATTTCTAAATGAATAATTGCTTATATAAAGCAGTTTTGATTAACAATATAAAACACTATCTATTTGGAGTGATTCCTTTACCCATTTCTGAAGGCAAGTTTTAAAAATTACTAGAAGACACTTCATTGAGAATATTATTAAACATGCCTATAGTTCTACCACCTCAACACAATTGCTTATTAACACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGGCTGCAGTGAGCTGTGATTACACCACTGTACTCCAACCTTAAAATAAATAAATAAATAAGGGAAAATATCTTCAACAAAGGATAGTTCTGTCTGTTTCTCAGTCTTCCTCAACAGATAAATGTGTGAAGTAATGGAAGGTGGAGATTTCAGATTACACAACATTAATGCTAAGGGCGTTTGACTCTGTGTGAATTCTAATTGCCCTAGATCTAGACGGGCTGATACTATTAGAATCCCCTGTCACTAACTGAAGACAGAGTTGTAAGTTAATGCCTTCCTAGATAGCCTAGATTGTGGTATGCTGCTGCATGCTAAAATGGCTCCCCTTCCATAGCAGGATGAAATAGAGTCATTATCTTGGCAACCAGCCCCTGCCAATGTGCTCTCAGTCTGCCTTTCCAGCCCCTTCTCTCTACCTATTCCCAGCTGCCATGTATTCTAAAGCCTCTATGCTTTCATTTTTGTTTTTGCCTTCCTGGATGGTCTTTCCTGCTGTCTCCACCTGAAACTATTCCTCTCTAAAGAACAGATGAATTGCCATCTCTCTGGGATGCTTTTACCCACCCTCACTCCCACCTCAGGCTGAATGGACCCTTCTCTAGATCGCTTAGCATATTGTTCTACAGTTAGGTAAAAAGTCTACCTATCACTAGATCAAGAGCTTTGTTTTTTTTTATTAATTTAATTTTCTTTTTTTTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCGCCGAGCCCCAAGACCTTTCTTTATTACCAGGGCTTCCACAGACCTGACACATGGTAGTTCCTCAATAAATAATTGCAGAATTACTGAAAAATTTTACTGTTAACTTAGGCAGTGGTAAAACCATTGTTTGGTAGCTCAGAACTCAGCAAGTAAATAGCAACATTTGCTGGAAGAACAGATAGTTTTTCAAATCCAATTCAAGGACTGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACAGGGTCTCAAAAACAAAAACAAACAAACAAAAAAAATCTTTTACCACGGTGACCACCATGTGATTTCCAAGAACTTCAAATGATCTAAGAAATTTTGTGATTATTACTAGTTTGAAAAATACTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCCACCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTTTTTCTTGGAATTTTATCAATCAGTGTCAGAATATTCATTACCTCCTAAAAATAAAGGAGTTCTAGTTGGCTGTTTTGATTCTAGGTGTGGTAAAGTGAAATATTGTTACTTAATAAATGCATTTTGCTAGACACAATCCTTCGGTTCACGAGCTCTGTAGAGAAAAGAGAAATAACCGCCAACCAAGAAAAGATTGGGAGATACTAGAATAAGACCCAGGGGCAGGAAGAAGCCAGTGAGAAGGAGGGCATGTTGAGAGCTCTGAGAGAGAATAAAAGCAGGGGTTGTTGGAGCTAGCTTCTCAAGATGTCCTTGAGGCAAACCAGACCTTTGGGACACTCTGAAAATAAAACTGAAAGTGAAGAGATTGTGGGCCGAATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCGATACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAGTCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAATAAATAAAAATAAATAAAAAAGAGATAGTGGCGTGATATCCTTGATTCTATCAGCAACCTATAAAAGTAGAGAGGAGTCTGTGTTTTGATTCAGTCACCTTTAGCATTTTTATTTCCATGAAGTTTCTGCTGGTTTATTTTTCTGTGGGTAAAATATTAATAGGCTGTATGGAGATATTTTTCTTTATATGTACCTTTGTTTAGATTACTCAACTCCACTAATTTATTTAACTAAAAGGGGGCTCTGACATCTAGTGTGTGTTTTTGGCAACTCTTTTCTTACTCTTTTGTTTTTCTTTTCCAGGTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTTATGAAAAGAAAAAAGGGGATTTTTAATAGTTTGCTGGTGGAGATAAGGTTATGATGTTTCAGTCTCAGCCATGAGACAATAAATCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGACACTACCCAATGCCTCAACCGTGGACAATATTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTTTTACATTTATTATCTTGGTTTATCATTCCATCACATTATTTTGGAACCTTTCAAGATATTATGTGTGTTAAGAGTTTGCTTTAGTCAAATACACAGGCTTGTTTTATGCTTCAGATTTGTTAATGGAGTTCTTATTTCACGTAATCAACACTTTCTAGGTGTATGTAATCTCCTAGATTCTGTGGCGTGAATCATGTGTTCTTTCAAGGTCTTAGTCTTGAAAATATTTATAGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACTTTGAAGGGCAGATTATTTATTCTTTGAGCTAACCTGACTGAGGAACAATTAGTTTGCTTTTAATTTACTATTTTCTTTTTCTTTTCTTTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCTCAAACTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGATCTCGATCTCCAGACCTC G . . ALLELEID=95632;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37003604_37013160del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-797_677+1061del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 3 37004155 90155 CACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGGCTGCAGTGAGCTGTGATTACACCACTGTACTCCAACCTTAAAATAAATAAATAAATAAGGGAAAATATCTTCAACAAAGGATAGTTCTGTCTGTTTCTCAGTCTTCCTCAACAGATAAATGTGTGAAGTAATGGAAGGTGGAGATTTCAGATTACACAACATTAATGCTAAGGGCGTTTGACTCTGTGTGAATTCTAATTGCCCTAGATCTAGACGGGCTGATACTATTAGAATCCCCTGTCACTAACTGAAGACAGAGTTGTAAGTTAATGCCTTCCTAGATAGCCTAGATTGTGGTATGCTGCTGCATGCTAAAATGGCTCCCCTTCCATAGCAGGATGAAATAGAGTCATTATCTTGGCAACCAGCCCCTGCCAATGTGCTCTCAGTCTGCCTTTCCAGCCCCTTCTCTCTACCTATTCCCAGCTGCCATGTATTCTAAAGCCTCTATGCTTTCATTTTTGTTTTTGCCTTCCTGGATGGTCTTTCCTGCTGTCTCCACCTGAAACTATTCCTCTCTAAAGAACAGATGAATTGCCATCTCTCTGGGATGCTTTTACCCACCCTCACTCCCACCTCAGGCTGAATGGACCCTTCTCTAGATCGCTTAGCATATTGTTCTACAGTTAGGTAAAAAGTCTACCTATCACTAGATCAAGAGCTTTGTTTTTTTTTATTAATTTAATTTTCTTTTTTTTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCGCCGAGCCCCAAGACCTTTCTTTATTACCAGGGCTTCCACAGACCTGACACATGGTAGTTCCTCAATAAATAATTGCAGAATTACTGAAAAATTTTACTGTTAACTTAGGCAGTGGTAAAACCATTGTTTGGTAGCTCAGAACTCAGCAAGTAAATAGCAACATTTGCTGGAAGAACAGATAGTTTTTCAAATCCAATTCAAGGACTGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACAGGGTCTCAAAAACAAAAACAAACAAACAAAAAAAATCTTTTACCACGGTGACCACCATGTGATTTCCAAGAACTTCAAATGATCTAAGAAATTTTGTGATTATTACTAGTTTGAAAAATACTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAAT C . . ALLELEID=95629;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37004157_37008450del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-245_454-365del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 3 37004372 90156 C A . . AF_ESP=0.00331;AF_TGP=0.00319;ALLELEID=95630;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37004372C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:199|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-29C>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139620056 3 37004382 68849 A G . . AF_ESP=0.00046;AF_EXAC=0.00022;ALLELEID=79740;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37004382A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-19A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=121909451 3 37004399 90157 A C . . ALLELEID=95631;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37004399A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-2A>C;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607732 3 37004400 90154 G C . . ALLELEID=95628;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37004400G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-1G>C;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607736 3 37004414 90167 T G . . ALLELEID=95641;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37004414T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_004444|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.320T>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750507 3 37004426 90171 C T . . ALLELEID=95645;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37004426C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.332C>T|UniProtKB_(protein):P40692#VAR_012907;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750539 3 37004434 90173 AC A . . ALLELEID=95647;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37004435del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.341del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750645 3 37004439 90175 T TA . . ALLELEID=95649;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37004440dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.346dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267607739 3 37004439 90174 TA T . . ALLELEID=95648;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Carcinoma_of_colon|Lynch_syndrome;CLNHGVS=NC_000003.12:g.37004440del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.346del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750906 3 37004444 90178 C G . . ALLELEID=95652;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37004444C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:200|UniProtKB_(protein):P40692#VAR_004446|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.350C>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750781 3 37004444 17094 C T . . ALLELEID=32133;CLNDISDB=.|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37004444C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:120436.0017|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.350C>T|UniProtKB_(protein):P40692#VAR_004445|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2504054;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=63750781 3 37004445 90179 G GAA . . ALLELEID=95653;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37004448_37004449dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.354_355dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750658 3 37004461 90181 A T . . ALLELEID=95655;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37004461A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.367A>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750542 3 37004462 90182 AGT A . . ALLELEID=95656;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37004464TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.372_373del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779006 3 37004469 90183 A G . . AF_ESP=0.00062;AF_EXAC=0.00040;AF_TGP=0.00080;ALLELEID=95657;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000003.12:g.37004469A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:788373|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834765|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1588992|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.375A>G;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1800144 3 37004471 90187 AC A . . ALLELEID=95661;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37004472del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.378del;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751607 3 37004472 90186 C G . . ALLELEID=95660;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37004472C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.378C>G;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751606 3 37004474 90194 G A . . ALLELEID=95668;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37004474G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.380G>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751595 3 37004475 90191 G A . . ALLELEID=95665;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Muir-Torré_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37004475G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.380+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=267607745 3 37004476 90192 T A . . ALLELEID=95666;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37004476T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.380+2T>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607742 3 37004476 90193 T C . . ALLELEID=95667;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37004476T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.380+2T>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607742 3 37006559 90196 CCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCT C . . ALLELEID=95670;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37006576_37007796del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.381-415_453+733del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 3 37006950 36551 A G . . AF_ESP=0.01962;AF_EXAC=0.00571;AF_TGP=0.02117;ALLELEID=45213;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37006950A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.381-41A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4647245 3 37006989 90195 A G . . ALLELEID=95669;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37006989A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.381-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607743 3 37006991 90201 AG A . . ALLELEID=95675;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37006992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.382del|Invitae:382590;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750865 3 37006992 90199 G C . . ALLELEID=95673;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37006992G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.382G>C|UniProtKB_(protein):P40692#VAR_012908;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750866 3 37006992 90200 GCAAGTTACTCAGATGGAAAA T . . ALLELEID=95674;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37006992_37007012delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.382_402delinsT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267607746 3 37006995 90202 AG GTT . . ALLELEID=95676;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37006995_37006996delinsGTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.385_386delinsGTT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751710 3 37006996 90204 GT G . . ALLELEID=95678;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37006998del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.388del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779009 3 37006998 90206 TA T . . ALLELEID=95680;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37006999del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.389del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779012 3 37007002 90208 C A . . ALLELEID=95682;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37007002C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.392C>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749818 3 37007004 17096 G C . . AF_ESP=0.00008;AF_EXAC=0.00020;ALLELEID=32135;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Colorectal_cancer,_sporadic,_susceptibility_to|Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37007004G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834763|Mayo_Clinic_Laboratories,Mayo_Clinic:201|Illumina_Laboratory_Services,Illumina:648570|OMIM_Allelic_Variant:120436.0019|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.394G>C|UniProtKB_(protein):P40692#VAR_022665;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=28930073 3 37007007 90209 G T . . ALLELEID=95683;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37007007G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.397G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751124 3 37007013 90213 CTGAA C . . ALLELEID=95687;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37007014_37007017del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.404_407del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779014 3 37007027 90214 TA T . . ALLELEID=95688;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37007030del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.420del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779015 3 37007037 90216 G GC . . ALLELEID=95690;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37007038dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.428dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751045 3 37007046 90217 C T . . ALLELEID=95691;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37007046C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.436C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63749820 3 37007048 220186 A G . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=221383;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37007048A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=377279035 3 37007050 574220 G A . . ALLELEID=562694;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37007050G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1060500702 3 37007055 90219 C T . . ALLELEID=95693;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37007055C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.445C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751302 3 37007063 90229 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=95703;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000003.12:g.37007063G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852695|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.453G>A;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=369521379 3 37007064 90223 G T . . ALLELEID=95697;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37007064G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.453+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607750 3 37007065 90224 T C . . ALLELEID=95698;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37007065T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.453+2T>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607751 3 37007088 36552 A G . . AF_ESP=0.00331;AF_TGP=0.00319;ALLELEID=45214;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37007088A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:202|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.453+25A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4647246 3 37007142 90227 A G . . AF_TGP=0.30931;ALLELEID=95701;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37007142A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.453+79A>G|Mayo_Clinic_Laboratories,Mayo_Clinic:203;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4234259 3 37007617 90226 C T . . ALLELEID=95700;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37007617C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.453+554C>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607748 3 37008148 90237 TTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTA T . . ALLELEID=95711;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008149_37008954del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-665_545+49del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1553642492 3 37008308 90235 ATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTT A . . ALLELEID=95709;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008313_37010722del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-505_546-1102del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 3 37008347 90234 GGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTC G . . ALLELEID=95708;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008348_37010758del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-466_546-1062del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 3 37008348 90233 GCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGT G . . ALLELEID=95707;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008382_37010790del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-432_546-1030del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 3 37008763 90236 T C . . AF_ESP=0.03383;AF_EXAC=0.02476;AF_TGP=0.02157;ALLELEID=95710;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37008763T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-51T>C|Mayo_Clinic_Laboratories,Mayo_Clinic:205;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4647255 3 37008801 90230 A G . . ALLELEID=95704;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37008801A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-13A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607749 3 37008812 90232 A G . . ALLELEID=95706;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37008812A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607753 3 37008813 36553 G A . . ALLELEID=45215;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37008813G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:120436.0005|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-1G>A;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=193922370 3 37008813 90231 G T . . ALLELEID=95705;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008813G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.454-1G>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=193922370 3 37008823 90242 CTT C . . ALLELEID=95716;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008828_37008829del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.468_469del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751101 3 37008824 90241 T G . . ALLELEID=95715;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008824T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043397|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.464T>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750891 3 37008834 90243 C T . . AF_ESP=0.01369;AF_EXAC=0.00346;AF_TGP=0.01078;ALLELEID=95717;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37008834C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:489115|Mayo_Clinic_Laboratories,Mayo_Clinic:206|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.474C>T;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4647256 3 37008847 90245 AG A . . ALLELEID=95719;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008848del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.488del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607754 3 37008854 90247 CT C . . ALLELEID=95721;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37008857del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.497del|Invitae:4002961;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779018 3 37008857 90246 T A . . ALLELEID=95720;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008857T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.497T>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607755 3 37008857 90250 T TA . . ALLELEID=95724;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37008863dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.503dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=3;RS=63749959 3 37008857 90249 TAA T . . ALLELEID=95723;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008862_37008863del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.502_503del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749959 3 37008871 90252 GA G . . ALLELEID=95726;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008873del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.513del_1;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749944 3 37008883 90253 A AAG . . ALLELEID=95727;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008884_37008885insGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.524_525insGA;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779019 3 37008891 90255 GG AT . . ALLELEID=95729;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37008891_37008892delinsAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.531_532delinsAT;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750903 3 37008891 90256 GG CT . . ALLELEID=95730;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008891_37008892delinsCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.531_532delinsCT;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750903 3 37008903 633498 C G . . ALLELEID=621930;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008903C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1481129490 3 37008903 633499 C T . . ALLELEID=621931;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37008903C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1481129490 3 37008904 90258 A G . . ALLELEID=95732;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37008904A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.544A>G|UniProtKB_(protein):P40692#VAR_012909;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750211 3 37008905 90264 G A . . ALLELEID=95738;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008905G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.545G>A|UniProtKB_(protein):P40692#VAR_022666;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779021 3 37008906 90259 G A . . ALLELEID=95733;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008906G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.545+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607765 3 37008908 90260 A G . . ALLELEID=95734;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37008908A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.545+3A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=3;RS=267607760 3 37008948 90261 C G . . AF_ESP=0.00008;AF_EXAC=0.00013;ALLELEID=95735;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37008948C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.545+43C>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607761 3 37011458 90268 TGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAATAAATAAAAATAAATAAAAAAGAGATAGTGGCGTGATATCCTTGATTCTATCAGCAACCTATAAAAGTAGAGAGGAGTCTGTGTTTTGATTCAGTCACCTTTAGCATTTTTATTTCCATGAAGTTTCTGCTGGTTTATTTTTCTGTGGGTAAAATATTAATAGGCTGTATGGAGATATTTTTCTTTATATGTACCTTTGTTTAGATTACTCAACTCCACTAATTTATTTAACTAAAAGGGGGCTCTGACATCTAGTGTGTGTTTTTGGCAACTCTTTTCTTACTCTTTTGTTTTTCTTTTCCAGGTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTTATGAAAAGAAAAAAGGGGATTTTTAATAGTTTGCTGGTGGAGATAAGGTTATGATGTTTCAGTCTCAGCCATGAGACAATAAATCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGACACTACCCAATGCCTCAACCGTGGACAATATTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTTTTACATTTATTATCTTGGTTTATCATTCCATCACATTATTTTGGAACCTTTCAAGATATTATGTGTGTTAAGAGTTTGCTTTAGTCAAATACACAGGCTTGTTTTATGCTTCAGATTTGTTAATGGAGTTCTTATTTCACGTAATCAACACTTTCTAGGTGTATGTAATCTCCTAGATTCTGTGGCGTGAATCATGTGTTCTTTCAAGGTCTTAGTCTTGAAAATATTTATAGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACTTTGAAGGGCAGATTATTTATTCTTTGAGCTAACCTGACTGAGGAACAATTAGTTTGCTTTTAATTTACTATTTTCTTTTTCTTTTCTTTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCTCAAACTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGATCTCGATCTCCAGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCACTATTTTCTTTCTAATTGTTAATGAATTAATTTTTTAAAACTGTGCTCCTAGAGCGAAGGGAGAGCTCTGTTTACAGTGTAACTTTTCAGAGCTTCTTTAACTAGATTTTAAGATCAGAATTAGTTGTTGTGAAATCTTAGGGACTGTACAAGATTAGAAATCCTCTATAGCAGCATTTCCCAAAGCAGGCTTCCAGAACACTAGCCTCATGAGGCATTTTGGGAAAAAAGAGTTTGCTGGTTCAGTGTGTATGGGCAGTGCCACAAGCCGTACCCTCCGTTGAAGACACTCATTCCACACATTACTGCATAAAAAGCTTCCACCAGCCATTCGGCAAACTTATTGAGTGTCTGCTATTTCCTGGGTATTGTGCTATATGGTAGGGTTATAGTAGTGAACAAAGAAGAAATGATGCCTGCTCTCAGCTGACTTTGCAGTTGGAAAGACACATGAAATAATTACGCCATTCATTAGCAGATTGTGCTAGATGCCTCACTGGAAAAATAAAGGACATGATGGAAAACTCTGTAGGGTCAGAGAAAGGGATCATTAGAGAAGGTTCTTTGAAGAAATATTTTTTGAAATATGAAGGATAAATAGGAATTAACTAGGTACCAATAGGTTAGGAGTAGAGCTTTCCAGACAGAGGGACTAGTTCTTGGGAAGGTCTCCAGACAGAAATAAGTGTGGCTTGTCTGAGGACCTCTTATTCGCCTATTAACCTTCCCTCCCCAGTAAACACTCCTGGGAACAACACACATTGTAGAACCACGTTGTGGTGCTGTTCAGTATAGCAAGTAATTCAGCAGAGATAAGTTCTTGGAATCTCATCTTTGGGATTTAGTTACTAAGATACATTCAAGTTTGAGCAAAATAAGGTCTCAGAGCTTGGATTCATTGTTCTGTTCCAGCAATTAGAGCAGTACCTGGCACATAGCACAAGTGCTTGAAAACACTGACTGAGTAGGGTAGGTGGGTGAGTGGGTGGGTGGGTGGGTGGGTGGATGGATGGATGGGAGGATGGGTGGGTGAATGGGTGAACAGACAAATGGATGGATGAATGGACAGGCACAGGAGGACCTCAAATGGACCAAGTCTTCGGGGCCCTCATTTCACAAAGTTAGTTTATGGGAAGGAACCTTGTGTTTTTAAATTCTGATTCTTTTGTAATGTTTGAGTTTTGAGTATTTTCAAAAGCTTCAGAATCTCTTTTCTAATAGAGAACTGATAGAAATTGGATGTGAGGATAAAACCCTAGCCTTCAAAATGAATGGTTACATATCCAATGCAAACTACTCAGTGAAGAAGTGCATCTTCTTACTCTTCATCAACCGTAAGTTAAAAAGAACCACATGGGAAATCCACTCACAGGAAACACCCACAGGGAATTTTATGGGACCATGGAAAAATTTCTGATCCATAGGTTTGATTAAACATGGAGAAACCTCATGGCAAAGTTTGGTTTTATTGGGAAGCATGTATAATTTTTGTCCTAAGTCTGTGCTCAGCCCTCCCACATGTGCTCATTGCTGGTTGACTGTTGGAGTCTGGTTCTTACCTCTAAGAGGAAGCCCAGGAGAGGGCATAAAGCCAGCACACTGTCCTCACCTGATGGTGTCAGAGTCCTTACGAGTAAGCCCTAGCCAGAACATTGCTGGAAGAGATCAAGGGCCACTGTTTGAAATTGCACAGCAGGATACGGAAAAGGGGTACCTTAGGTATAGGCATTGTCATTAAAGAAATTGCTAAGATACTTGAGATTTTCCTGTTTAAGGAATGAGCTTTATGATACAAAGAGCAGTTCTAAAAATTAGGGAGGGAATTAACTAAATTAATTAGGATATTTCTCAAATTCCTTTACAGTTTTTGTCTCTCTGCTGATATAGTGTTTACATGATTGTTATTTACTAAACAAATGCTATTTTGTATTGTGCTCCTTATAACTTAATTGTTTATTACAAGGTTTTGATGGTGACCTACCAACAACAAGTAATCCCAAACACAGTCTGAATTTTTTGTTTTCCATCCAGAAATAAGATGAATCTTTCCATTTCCGTGTTTTCAGTTTTCATCATTTTTATCCTATAGGTTACTTATCTTTATTTTAAAGCATTTCATAATAATTTTATAGTTTTTGTTTTGTTTGCTTGTTTGCTGTTGGAAATGGAATATTCCCTCCTTCCATTTAGACTGCTAACCAGCTGTAAATGTTTCAAAATATGCATGTTTTACAGCAGTTGTTCAAAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGACAAAGACCACTCCTTTGGCGCATCTCAAGTTCAGAATTCTCAGTAGAGGGGCTCCAGCTGTCCTTTTGTCAGGTGCCCATGCCTGCTCCAGGCCTGTGTGGTCAGGACACGTGTTACAGAGTACAGTGACATTAATGATGGGGCCATGGATATGGTCAGCACTCAGAGGATGTTAGTCTCTTCATTGATAAAGTCACAACCACTTTTCCTGTTGGAAATAAAAAGATTTGACGTATCCTTGTCTACAGCAACACAGGACAACAGATAATCAGCAGGTCATCTAAATCTGTTCAGAGAGAAAGGAGAGCTGTTTCCTGAAAATACATCTTCCCCTGATTTTAGTCTTATTTTTTTCTGCCTTTATTGCTTTCTACCCTCTTCAAACCAGCCTCATTTCCTAAATTACCTTGAATATGCATTGACACTTGTACTGCCTGAAATTCTGGAAAACTCAGTATGGCTACTCCACCGTCAGAACTTCCTGAGCAAAGTTAGTTGCTCTCTCGGCTCACTGTTTTGTTTTGTTTTGTTTTCCTGCCTCAGGTTTATTTGTACAAATAGCACAGGAGGACCAGCCCCATGCAGATGGTAGCCCAGGGGCGGGGGTAGGGGGTCACACCAGTCCTTCTGTCCTCATGTTGGCAGAGATATCTACTCTGAAGCCTTTGTAGGGGCCTGGGCACCTTTGGGAGCCTGAGCTGGAACTGAAGGTGGAGCTGCAGCCTGGGCCTTGGTTTGATCCTTGGCCTTGGCCTTTGGCCGGCACAGCCTGAGCCCCTTGGCAATACGGGCACGAGCACGCTTCCCAAGCTTGGGATGGGCAATGTAGGCAAGTCGATCGAGCTTGCGGCTGACACCCTTTGGGATCTTGGGCTTAACCTCCTTGGGCTTTACGAGGGCCTTGATAGCCTCGGCACGTGCACTCATGGCCTTGGCATTGTTGGCCTGCATCTTCTTTAGGCCCTTCTTGTTGTGCTTCTTGGCAAAGTGCATGTTCCTCAGGAACTTGGGGTCCACCCCCTTAAGAGATTCGTATCTTTGTGATCGGGGTTTCTTGATACCATTTCTGTGCCATTTTCGGGACTGGTTGTGTGTGGTGTGGTTCTTGGACTTCGCCATGTCTACACCTTAAGCCGCGGCTCCCGAAGCACCTAGAACCGGAAGAGTTGGCTCACTATTTAGCACACACACACGTCTATAATAGTGCTGGCCACTTGGGGTTGGAATTAGTTTATTTATCAGCATGTTGTCTCCCAGCACTTGGTGTGTGTGATATGCAGTATGTATTTGCAGAATGAAAAGTCTGAGGGCTGACATCATATTTCCCACTGTGCCCAGAAAGAGCACAGTTAGTCCACATGAGCTAATGGGGGCAAAGGGAAGTGAGGAGGGAGAATGTACTGCCTTATCATGTTTTCTATTACTTGGCTGAAGTAAAACAGTCCCAAGCCGATAGTAAGATAGTGGGCTGGAAAGTGGCGACAGGTAAAGGTGCACCTTTCTTCCTGGGGATGTGATGTGCATATCACTACAGAAATGTCTTTCCTGAGGTGATTTCATGACTTTGTGTGAATGTACACCTGTGACCTCACCCCTCAGGACAGTTTTGAACTGGTTGCTTTCTTTTTATTGTTTAGATCGTCTGGTAGAATCAACTTCCTTGAGAAAAGCCATAGAAACAGTGTATGCAGCCTATTTGCCCAAAAACACACACCCATTCCTGTACCTCAGGTAATGTAGCACCAAACTCCTCAACCAAGACTCACAAGGAACAGATGTTCTATCAGGCTCTCCTCTTTGAAAGAGATGAGCATGCTAATAGTACAATCAGAGTGAATCCCATACACCACTGGCAAAAGGATGTTCTGTCCCTTCTTACAGGTACAAGGCACAGTTTTCCTTCATTTATTCACTAATTTAGCAGAACCTCACTAAGAGCCTCCTATATGCCAGGCTCTGCGTTAGCAATAAAAGGAATGCCATGCCTCACCCCATCAGGAGGTGCTGATAGCTTGTAGGCGGAGTGGAAACAGATGTGCTCTAGAGGCTCTAAATATTACTTCTGCTGGGGTCAGTTGGGAAGCCACAACAGCTACTGTTCATCTTCCATAAAAGACAATCAGCCGGGCACAGTGGCTCACACCTGTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAACGTGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGCTGAGACTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGATTTTACCATGTTGGCCAGTCTGGTCTTGAACTCCCGACCTCAGGTGATCCTCTCACTTTGGCCTCCCAAAGTGTTAGGATTACAGGCCTCAGCCACTGCACCCAGCCTAAAGTTAGTTTTAGATTAAGTGTTTTCATGTTTTCCCTTGCAAAGTAATAAACTGGTCAAGTTATCACCTTGTTCCATCTCCATATTAATCAGGGTCCAAACAGGAGATAGAAACCATGCAACAATTTGAGTAGTTGAATAAAGAATTATAAACAGGAGATTAGAGTAATAGGGGATTAGATAGTAAGAGGTGAAGAGATAGGAACAGCAGATATAAAGAACAACCATTTCCTCCTATGGCTGAGATACCATCCCCTCACCACACTCCCCCACCTACTCACTGAGATGCAGACCTTATTGAAGAGAATGTAACTGGCTTGCTGCGAGGTAAAGTCAATGAGGCGCTCCCCAGTACCACTCTGAGGGGATGCTGGGGAAAACTGCCCATGAGAAGAGGGCACATGCTGCTGGCCACTTGTGCTAAAGAACTTGAAGTCTGATAGGAGTGCACCCTAACCTGGCATAGAAACCCTTTCTTCCTGCTGAGTCCCTCTAGCACCTTATACTGGCAAAGCTTTACATTGCAAACCTCCATTATCACAGAGCAAGCAATGAAAGATGGACTCAGAGCTGAGGCGATAAATTGATAGCTAGCA T . . ALLELEID=95742;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37011459_37019499del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.546-361_885-811del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant;ORIGIN=1 3 37011818 90266 A C . . ALLELEID=95740;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37011818A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.546-2A>C;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607759 3 37011818 90267 A G . . ALLELEID=95741;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37011818A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.546-2A>G|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851137|Mayo_Clinic_Laboratories,Mayo_Clinic:208;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607759 3 37011819 90265 G A . . ALLELEID=95739;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37011819G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.546-1G>A;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587779022 3 37011828 90272 T G . . ALLELEID=95746;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37011828T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.554T>G|UniProtKB_(protein):P40692#VAR_004447;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750515 3 37011844 90276 TAGTTTCTCAGTTAAAAA T . . ALLELEID=95750;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37011848_37011864del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.574_588+2del;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779023 3 37011852 90278 C G . . ALLELEID=95752;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37011852C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.578C>G;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751480 3 37011856 90287 TA T . . ALLELEID=95761;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37011862del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.588del|Invitae:4841953;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=63751653 3 37011860 90279 A T . . ALLELEID=95753;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37011860A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.586A>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750500 3 37011862 90281 AG A . . ALLELEID=95755;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310;CLNDN=Lynch_syndrome|Lynch_syndrome_II;CLNHGVS=NC_000003.12:g.37011863del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.588+1del|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_144;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607773 3 37011863 90280 G T . . ALLELEID=95754;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37011863G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.588+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607772 3 37011864 90282 T A . . ALLELEID=95756;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37011864T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.588+2T>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779024 3 37011867 90285 G A . . ALLELEID=95759;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37011867G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.588+5G>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607768 3 37011873 36555 G C . . AF_ESP=0.01061;AF_EXAC=0.00278;AF_TGP=0.00958;ALLELEID=45217;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37011873G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:210|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.588+11G>C|Illumina_Laboratory_Services,Illumina:733781;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4647258 3 37011996 36556 C T . . AF_ESP=0.00484;AF_EXAC=0.00157;AF_TGP=0.00799;ALLELEID=45218;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37011996C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:212|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.589-15C>T|Illumina_Laboratory_Services,Illumina:1335102;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55658850 3 37012009 90291 A G . . ALLELEID=95765;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37012009A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2665225|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.589-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607767 3 37012010 90290 G T . . ALLELEID=95764;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37012010G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.589-1G>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587779027 3 37012014 90294 GGA G . . ALLELEID=95768;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012015GA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.597_598del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63751637 3 37012054 90299 C CT . . ALLELEID=95773;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012054_37012055insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.632_633insT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750908 3 37012059 41640 G A . . AF_ESP=0.00853;AF_EXAC=0.00274;AF_TGP=0.00919;ALLELEID=50079;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37012059G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:11623|Mayo_Clinic_Laboratories,Mayo_Clinic:213|Illumina_Laboratory_Services,Illumina:557346|UniProtKB_(protein):P40692#VAR_012910|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.637G>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=2308317 3 37012070 90304 TC T . . ALLELEID=95778;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012071del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.649del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750380 3 37012077 90305 A C . . ALLELEID=95779;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012077A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.655A>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1799977 3 37012077 36557 A G . . AF_ESP=0.24297;AF_EXAC=0.23254;AF_TGP=0.12959;ALLELEID=45219;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000003.12:g.37012077A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:214|UniProtKB_(protein):P40692#VAR_004450|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.655A>G|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1785567|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A3|Illumina_Laboratory_Services,Illumina:31940|HGMD:CM970958|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3292;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1799977 3 37012084 90308 G GA . . ALLELEID=95782;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012087dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.665dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750385 3 37012084 90307 GA G . . ALLELEID=95781;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37012087del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1185315|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.665del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750385 3 37012092 90309 GT G . . ALLELEID=95783;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012094del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.672del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779031 3 37012094 90310 TAGTC T . . ALLELEID=95784;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37012095_37012098del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.673_676del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267607774 3 37012098 17087 C T . . AF_EXAC=0.00001;ALLELEID=32126;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37012098C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.676C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:215|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2585064|OMIM_Allelic_Variant:120436.0010;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=63751615 3 37012098 90313 CG C . . ALLELEID=95787;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012100del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.677+1del;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607779 3 37012099 90318 G A . . ALLELEID=95792;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37012099G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.677G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832577|Mayo_Clinic_Laboratories,Mayo_Clinic:217;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=63751711 3 37012099 90321 G GT . . ALLELEID=95795;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012099_37012100insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.677_677+1insT;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779033 3 37012099 90319 G T . . ALLELEID=95793;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37012099G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1785646|UniProtKB_(protein):P40692#VAR_004451|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.677G>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=63751711 3 37012099 90320 GG AT . . ALLELEID=95794;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37012099_37012100delinsAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.677_677+1delinsAT;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587779032 3 37012100 90311 G A . . ALLELEID=95785;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37012100G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.677+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607778 3 37012100 90312 G T . . ALLELEID=95786;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37012100G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.677+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607778 3 37012102 90315 A G . . ALLELEID=95789;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37012102A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:216|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.677+3A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607780 3 37014420 90327 CTTTTCTAATAGAGAACTGATAGAAA C . . ALLELEID=95801;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37014423_37014447del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.678-9_693del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779036 3 37014427 90326 AAT A . . ALLELEID=95800;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37014429_37014430del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.678-3_678-2del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607783 3 37014430 90324 A G . . ALLELEID=95798;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37014430A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.678-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779035 3 37014431 90322 G C . . ALLELEID=95796;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37014431G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.678-1G>C;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607784 3 37014431 90323 G T . . ALLELEID=95797;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37014431G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.678-1G>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607784 3 37014436 90333 C CT . . ALLELEID=95807;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37014437dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.683dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751659 3 37014445 90334 AT A . . ALLELEID=95808;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37014447del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.693del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750764 3 37014456 36558 G A . . AF_ESP=0.00046;AF_EXAC=0.00039;AF_TGP=0.00020;ALLELEID=45220;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37014456G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.702G>A|Illumina_Laboratory_Services,Illumina:101500;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=35908749 3 37014476 90338 AAATG A . . ALLELEID=95812;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37014477AATG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.727_730del;GENEINFO=MLH1:4292;MC=SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607787 3 37014484 90341 GGTTA G . . ALLELEID=95815;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37014485_37014488del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.731_734del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779037 3 37014485 90339 G A . . ALLELEID=95813;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37014485G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.731G>A|UniProtKB_(protein):P40692#VAR_012911;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750303 3 37014493 90342 T C . . ALLELEID=95816;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37014493T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.739T>C|UniProtKB_(protein):P40692#VAR_043400;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750948 3 37014498 90345 T TG . . ALLELEID=95819;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37014499dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.745dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750819 3 37014533 90350 T G . . ALLELEID=95824;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37014533T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043401|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.779T>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751283 3 37014535 90352 TTCA T . . ALLELEID=95826;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37014536TCA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4842007|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.785_787del;GENEINFO=MLH1:4292;MC=SO:0001822|inframe_deletion,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779039 3 37014544 90358 CG C . . ALLELEID=95832;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37014545del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+1del;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=3;RS=267607798 3 37014545 90356 G A . . AF_TGP=0.00020;ALLELEID=95830;CLNDISDB=.|Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Colonic_neoplasm|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37014545G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832433|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=3;RS=267607789 3 37014545 90357 G C . . ALLELEID=95831;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37014545G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+1G>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607789 3 37014545 90361 G GT . . ALLELEID=95835;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37014546dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+2dup;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607791 3 37014546 90359 T A . . ALLELEID=95833;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37014546T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+2T>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607790 3 37014546 90360 T C . . ALLELEID=95834;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37014546T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+2T>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607790 3 37014549 90364 G T . . ALLELEID=95838;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37014549G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+5G>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607771 3 37014554 90355 A G . . AF_ESP=0.00154;AF_EXAC=0.00194;AF_TGP=0.00020;ALLELEID=95829;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000003.12:g.37014554A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:219|Illumina_Laboratory_Services,Illumina:141220|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3298|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+10A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182733777 3 37015499 90366 C A . . AF_TGP=0.30931;ALLELEID=95840;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37015499C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.790+955C>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1558528 3 37016100 90368 C T . . AF_TGP=0.24501;ALLELEID=95842;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37016100C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791-1406C>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4647269 3 37017481 90371 TG T . . ALLELEID=95845;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017483del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791-23del;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607797 3 37017499 90375 T A . . ALLELEID=95849;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017499T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791-7T>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587779042 3 37017499 90373 TGTTTAGATC T . . ALLELEID=95847;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017502_37017510del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791-4_795del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779041 3 37017501 90374 T G . . ALLELEID=95848;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37017501T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_742|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791-5T>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607788 3 37017504 90372 A G . . ALLELEID=95846;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37017504A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607794 3 37017504 90379 AGATC A . . ALLELEID=95853;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017506_37017509del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791_794del;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607799 3 37017505 90369 G C . . ALLELEID=95843;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37017505G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791-1G>C;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607795 3 37017505 90370 G T . . ALLELEID=95844;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017505G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.791-1G>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607795 3 37017508 90380 C A . . ALLELEID=95854;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37017508C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_076344|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.793C>A|Mayo_Clinic_Laboratories,Mayo_Clinic:220;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=3;RS=63751194 3 37017508 29654 C T . . ALLELEID=38609;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37017508C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:120436.0030|UniProtKB_(protein):P40692#VAR_054530|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.793C>T|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_353;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751194 3 37017509 433856 G C . . ALLELEID=427208;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37017509G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751448 3 37017518 90382 A G . . AF_ESP=0.00023;AF_EXAC=0.00017;ALLELEID=95856;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221576|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000003.12:g.37017518A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.803A>G|UniProtKB_(protein):P40692#VAR_012915;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750650 3 37017521 17098 C G . . ALLELEID=32137;CLNDISDB=Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102,SNOMED_CT:363406005|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MedGen:C0009405|MedGen:CN517202;CLNDN=Malignant_tumor_of_colon|Lynch_syndrome|Lynch_syndrome_II|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37017521C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:120436.0021|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.806C>G_1;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750691 3 37017522 90383 AACTT A . . ALLELEID=95857;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017523_37017526del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.808_811del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607801 3 37017524 90384 CTTCCT C . . ALLELEID=95858;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017526_37017530del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.811_815del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779043 3 37017535 90386 A AAAGC . . ALLELEID=95860;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017536_37017539dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.821_824dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751439 3 37017542 520540 T G . . ALLELEID=511145;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37017542T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1253275403 3 37017555 90389 T A . . ALLELEID=95863;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017555T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.840T>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750938 3 37017557 90390 C T . . ALLELEID=95864;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017557C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.842C>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749950 3 37017560 90391 C G . . ALLELEID=95865;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37017560C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043403|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.845C>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750360 3 37017566 90393 T A . . ALLELEID=95867;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017566T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.851T>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750889 3 37017570 90399 C CA . . ALLELEID=95873;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37017575dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.860dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750034 3 37017570 90398 CA C . . ALLELEID=95872;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017575del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.860del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750034 3 37017570 90396 CAA C . . ALLELEID=95870;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017574_37017575del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.859_860del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750034 3 37017571 90395 A AT . . ALLELEID=95869;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017571_37017572insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.856_857insT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750212 3 37017574 90402 A AAC . . ALLELEID=95876;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37017575AC[5];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.866_867dup|Invitae:4842039;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779047 3 37017574 90401 AAC A . . ALLELEID=95875;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017575AC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.866_867del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779047 3 37017597 90407 C T . . ALLELEID=95881;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37017597C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.882C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841627;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751707 3 37017597 90417 CAGGT C . . ALLELEID=95891;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017599_37017602del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.884_884+3del;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779050 3 37017598 90408 A C . . ALLELEID=95882;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37017598A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.883A>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751598 3 37017598 90409 A G . . ALLELEID=95883;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37017598A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.883A>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751598 3 37017599 90415 G A . . ALLELEID=95889;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37017599G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.884G>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750144 3 37017599 90416 G C . . ALLELEID=95890;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37017599G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.884G>C|UniProtKB_(protein):P40692#VAR_012916;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750144 3 37017601 90411 T C . . ALLELEID=95885;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37017601T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.884+2T>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607806 3 37017603 90414 A G . . ALLELEID=95888;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37017603A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.884+4A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607777 3 37019712 90423 ATATAAAGCACATGGCATTAATTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAAGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGACTCCCTGGTTGAAGGGATTCTCCTCCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCCAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCACTTGGCATGAATTTAATTCCCGCCATAAACCTGTGAGATAGGTAATTCTGTTATATCCACTTTACAAATGAAGAGACTGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAATTCCTCCAGGATGTACTTCACCCAGGTCAGGGCGCTTCTCATCCAGCTACTTCTCTGGGGCCTTTGAAATGTGCCCGGCCAGACGTGAGAGCCCAGATTTTTGCCTGTTATTTAGGAACTTTCTTTGCAAGTATTACCTGGATAGTTTTAACATTTTCTTCTTTGAACCTAGTTATAAAGGTATTGTGCTGTTGTTCCTAGGCTTAGAGTCATAAGGCCTGAGCTCACTTCCTCACTTTGCCTCCATCTGGAACCTTAGACCAACTTCCTAGGAAAACGAGCTGTCTGAAAACAGAATAGGGTGCCTCTTCAATGTGCTCTTCACTGGAGATGTTCAGGAGGAGGCTACTCCCACCTACACAGGGTGCAGTGGAGGGTCTGGGCCCCAGGGAGGCAGCAGGAAGAGTGGAAAGAGCGGAGGCTCTACTGTTGGACAGACCTGGGTTACCAGCCGTGTGACTAGCCTTCCCTGGCCTCCATATCCCCCTCAGTAATGAAGGAATGTGTCATCCCCAAATCCAGGGACAGTTACAAGCAGTCAGTGAACAGAAAGTGTCTGGTACAGGTTCTAAGTGCTTATTATTCTAAGTCACTTCACTTACCTGAGTTCTCAGTTTTCCTATCTATAAGATAAGCAGGTTGGATAAAATGTTCTCCAATATACTCCTGGTCCTGAGATGATGTGATTGTGGGCAGCCCTTTAATCATGGTGAAGATGTTCATCATAAGCACACTGAAACTACAAAATAGGAATATAAATATTTTCTCCATTAAATTATGCTGGATCCTAGAAGCAAAAACTGGAACTGTGAAACCCTACTTCACAGAAAACTTAAAATTCCCAAGCAGATGAATGCTTCTCGGAAGGACACTGACAGTTACCTACCTGGAAAGAATCTAGATGGAGGTGGCATGGGCACTAAGCGGTGAGATTAAACCCAGTTAGGGCAGCCCCACCAGCCTTGGAACCCACACATCTGGAGATTGTTGATGCAGAGAGAAAGGTTCCTACTGGTGAGACCTGAAAGGGATATGTGGCAGGTGGGAGGAAGAAGTTCTGTCTGGAAACCAACCCTTGTTCCTCCGTTATTGATTGACTCCTGGTACCAACATGAGCCCTAGGTCTTATAGAGGCCATAAGTCCC A . . ALLELEID=95897;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37019716_37021586del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.885-594_1038+1123del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant,SO:0001627|intron_variant;ORIGIN=1 3 37019815 90422 CCCTGGTTGAAGGGATTCTCCTCCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCCAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCACTTGGCATGAATTTAATTCCCGCCATAAACCTGTGAGATAGGTAATTCTGTTATATCCACTTTACAAATGAAGAGACTGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAATTCCTCCAGGATGTACTTCACCCAGGTCAGGGCGCTTCTCATCCAGCTACTTCTCTGGGGCCTTTGAAATGTGCCCGGCCAGACGTGAGAGCCCAGATTTTTGCCTGTTATTTAGGAACTTTCTTTGCAAGTATTACCTGGATAGTTTTAACATTTTCTTCTTTGAACCTAGTTATAAAGGTATTGTGCTGTTGTTCCTAGGCTTAGAGTCATAAGGCCTGAGCTCACTTCCTCACTTTGCCTCCATCTGGAACCTTAGACCAACTTCCTAGGAAAACGAGCTGTCTGAAAACAGAATAGGGTGCCTCTTCAATGTGCTCTTCACTGGAGATGTTCAGGAGGAGGCTACTCCCACCTACACAGGGTGCAGTGGAGGGTCTGGGCCCCAGGGAGGCAGCAGGAAGAGTGGAAAGAGCGGAGGCTCTACTGTTGGACAGACCTGGGTTACCAGCCGTGTGACTAGCCTTCCCTGGCCTCCATATCCCCCTCAGTAATGAAGGAATGTGTCATCCCCAAATCCAGGGACAGTTACAAGCAGTCAGTGAACAGAAAGTGTCTGGTACAGGTTCTAAGTGCTTATTATTCTAAGTCACTTCACTTACCTGAGTTCTCAGTTTTCCTATCTATAAGATAAGCAGGTTGGATAAAATGTTCTCCAATATACTCCTGGTCCTGAGATGATGTGATTGTGGGCAGCCCTTTAATCATGGTGAAGATGTTCATCATAAGCACACTGAAACTACAAAATAGGAATATAAATATTTTCTCCATTAAATTATGCTGGATCCTAGAAGCAAAAACTGGAACTGTGAAACCCTACTTCACAGAAAACTTAAAATTCCCAAGCAGATGAATGCTTCTCGGAAGGACACTGACAGTTACCTACCTGGAAAGAATCTAGATGGAGGTGGCATGGGCACTAAGCGGTGAGATTAAACCCAGTTAGGGCAGCCCCACCAGCCTTGGAACCCACACATCTGGAGATTGTTGATGCAGAGAGAAAGGTTCCTACTGGTGAGACCTGAAAGGGATATGTGGCAGGTGGGAGGAAGAAGTTCTGTCTGGAAACCAACCCTTGTTCCTCCGTTATTGATTGACTCCTGGTACCAACATGAGCCCTAGGTCTTATAGAGGCCATAAGTCCCTATGCCTTATAGTGCCCATGGATGAGATGAGGCCACACATGCCCCCAGTGGGTTAACATGTCTAGCGTGGGTAAGGCTCTTGGAGCACTATGATACACAGGAAATGCCCAGTAACTCTTAGTTGGTTTGATATCTGTTCCCATTGCTCACTTAAGCTCAGTGCCCCTTTACTGATCCTTTTATTCTGCCTCCCTCTGCACATGTGCATTGAGACTCCTATCTGAGACACACACTGTGTTGGGTGCCCAGGGATGCAGCATAGATGTTGCTGCCTTCCACAGAAGCGCTCATGGTCTGCTAGAGAATATATCCCATGGGAGAGAAAAACAGACTCGGGAGAATATAGCAGGGGCCCTTGTCCTGGACTTTGGCAGTTAGGAAAGGGAGGGAAGAGACATGGAGGCTGGGACCCAAAGGCTAAATAGGAATTTGCTGGGCCAAAGGGGAGGGGGAATGAAAAGAGTGTTTCTGGCAGAGGAAATGGCAAGGATAAAGGCCTGGAGGCGCAAGAGAATATGTGTTTGAGGATCTGAAAGTTGAGTGCAGTGGGTCCAGTGTTCTCTACCCTGGCTGCCATTAGAATTACCTGGGAAACTTTTAGAAAATTCCAGTGTCTGGGCCCTCCCTAAAACAATAAATCATTCTTGGGTGGTGGGGTCTGGGCATCAGGATTGTTTAAAACCCTCCCCAGGTACTGTCATGTGCAGCTGGGGTTAAGCTGTGCTGGGGTCTGAGTATGGATCTGTTAGGGCAAGTGGCGGTGATGGAGTTGAGGCTGCAGAATTCAGGCCAAATAGAGAGGTTTTCATCAGGATATTAAAGAGTTTAGATTTCAATTTGGTGGGAATGGATGGGATCTTATTTGCATTTTATGAAGAGCTCCCTGGTTGCAATATCAGAATGGATTGGAGAGGAGCAAGATGGAAGCCTACAGTGATTTGGGAGAAGTGGTGAGGGACTTGAGACACAGGAAGTAGCCCCATTCACTAATAGTTGAGTATGTAGATTTGCTAGGACCTGGAAATGGTTTGGCTGGTGGGGAGTGGGAAGAAAGGCCCAAAGTGTGAAATGAAGATGGAGAGCACATTGCCTAGCCCAGAGTGATTGCCATTTGCTCTGTCCCAGTTGAGGTCCAAGGGGTTGGCCAGAGATCATGGAGTCTGTGGCTCCATGGGGAGAAGAACCTCTCAGCATGCCTCCTTGTCTTATCCTGGGTTAGTCAGATTCATTTTGTTAGATTACATTTTTTTTCCAGTGGAACTCTGCTTAAGTCCTGACCAGTATGTTTTCAGAAGGATCAGAGGGCCTGCCCTTGTCCATTGGTGCATGACACCAGCTTGGTGGGTTCCTTGCTGCTCCCTGTTTTCATAGGGTTATCAGAATACCTTCTCTCCCTGCCACCAGCAGGTCACACTGGCTCCTGACTTTTTGGCCCATGGAACCACCATCTTTCTGCTTCTTAGATTGTGCCTTGTACTCCACTGATCATGGCCAGTACATCAGAAGCCCTGGTTTGCAGTGAATGCATTTGATATGGAAATCAGGAACCCTGGGGATACCACTCATCATATTTGGTTGCTGTGTTTTTCCTCCAATCTTTCACCATAACAACAATCAACTCAAAAGATTTCTATAACCACTTGTGTGGGGGTTTCTCCCCACACACTAAACAAGCAGTCAGTTCCAGAGTGGACAGCAGCTGGTCTCCTCCAATTTAATTCCAACACTGTCTACTTGGAGATAGCATTAGATCCCACAGGTTGAGGGTGCAGTCCCCTAGACTGCCCCCAGTCTCCTGCTTCAGACACCAGTCACAAGTCCAGGACTCTAGAAGTTCTGACCAGTTTCAAGTTGGGGTTCCCACAACCCCCCACTTTATTTTTGATTAATTTGCTGGAGTGGCTCATAGAACTCAGGGAAACACTTAGTTTTCTGGACTTATTACAAAGATTTAAAAAGATACCAATAAATAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTACCTTTTTGTTTCCATTGGCCCTGTACTTCTTATTATACCCCAGCAGGAGGAGCATAATGTGTTGTTATATCATTCTGGTGATAAGATTCATAAGTGGGTTCAGCTGGTGACAGCCTGATTCCCTCATTGTAAACTTATCCATCAACATGTAGCTTAATCGTTTCACCTTTTGTGATGACCATTACCTGAATCAGTTATTTCATTAGATTGCAAGATTATGCTTTTCTGATTTTATCATTTCTTCTGTATTGACTGTAATTCTTTGGTATAGAAGAACTTTCCCTTGTTAATAGCTATTTGGTTGTCCTGAAGTACAGTTCTTACTAGAAAGTAAGACCAAATGCTGAATTATATCCCTCTAGCTATCAATTTTCGAAGGAATGAATGGTGTCCTAGTAATTTCCAGTGGTGTTTAATTACGTTTTCCCTTCTCTTTCTCCTTCTCTTATTCCCTCCCTCTCCATCTCCTCCCTCCTCACTTTCAGTTTTTTGCTCTTTCAGTATTTTGTCATAGCTGTTAACAGAGCAACATATTTTAATCAATTGTAGTCATTTTTCTTTTTGGTGCTCAAATTATCCCGTCTTAGTCCCATGGAAGCAAGCCCTTGGAGCTAGGGCCCTCTACCTTTTGATGGATTTCCATTTGTCTTGATAATTTCCTTGTTTCTGACAAGACAAGATGTTGCAGGCACATTTTATACTTTCCCAGCCCAAACCCTGGAATAGGCCTTTTCTCCGAGGAGCTCTAGTTCATTTTAGTGGGAAATGGTATTTAGAGACTATAATCTGGGATCTGGGAGTCCTCATTGCTACTGAGTAGTCATTACTTTTAGGCTTTTCCAGTGGTCAGAGCTAGGAAATATGTATATTTAAAAATGGACAGTTGAATGGTTGTTGCCAGGAGCTGGGAGGAAGGGGAAGTGAGAAATTGTTTAATGGGCACAGAGTTTCAGTTTGGGGAAGATGAAAAAGTTCTAGAGATAGCTGGTGGTGATGGTTGCGCAACAATGTAAATGCCA C . . ALLELEID=95896;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37019817_37025265del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.885-493_1039-372del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant,SO:0001627|intron_variant;ORIGIN=1 3 37020102 90419 GAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC G . . ALLELEID=95893;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020104_37020422del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.885-206_997del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1553647795 3 37020229 90425 G C . . AF_TGP=0.01018;ALLELEID=95899;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37020229G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.885-81G>C;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=104894999 3 37020286 90420 T A . . AF_ESP=0.00131;AF_EXAC=0.00154;AF_TGP=0.00080;ALLELEID=95894;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37020286T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:223|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.885-24T>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201594027 3 37020288 90418 TTC T . . ALLELEID=95892;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37020290CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.885-16_885-15del|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A4;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607804 3 37020305 90424 G T . . AF_EXAC=0.00002;ALLELEID=95898;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37020305G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838527|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.885-5G>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607802 3 37020308 90421 A G . . ALLELEID=95895;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37020308A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.885-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607805 3 37020309 90431 G GT . . ALLELEID=95905;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020312dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.887dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751620 3 37020312 90430 T G . . ALLELEID=95904;CLNDISDB=Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102,SNOMED_CT:363406005|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Malignant_tumor_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37020312T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.887T>G;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750547 3 37020312 90432 TA T . . ALLELEID=95906;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020313del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.888del_1;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607809 3 37020314 90434 G T . . ALLELEID=95908;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020314G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.889G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750736 3 37020322 90436 TC T . . ALLELEID=95910;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020326del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.901del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779052 3 37020326 90435 C T . . ALLELEID=95909;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37020326C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1786713|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.901C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750489 3 37020336 90439 A T . . ALLELEID=95913;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch-like_syndrome|Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020336A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043405|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.911A>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=3;RS=63750993 3 37020343 90441 T A . . ALLELEID=95915;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37020343T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.918T>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779054 3 37020345 90443 T TGC . . ALLELEID=95917;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020346_37020347dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.921_922dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750962 3 37020348 561172 A C . . ALLELEID=552281;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37020348A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1559543768 3 37020352 90446 CA C . . ALLELEID=95920;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37020353del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.928del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779055 3 37020356 230595 A G . . ALLELEID=232923;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37020356A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658657 3 37020359 90448 C CA . . ALLELEID=95922;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020360dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.935dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750319 3 37020362 90449 G GA . . ALLELEID=95923;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37020364dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.939dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751259 3 37020378 90451 AC A . . ALLELEID=95925;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37020379del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.954del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749926 3 37020380 90453 G T . . ALLELEID=95927;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37020380G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.955G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750796 3 37020399 90456 G A . . AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=95930;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37020399G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_012917|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838925|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.974G>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750268 3 37020402 42496 T C . . AF_ESP=0.00085;AF_EXAC=0.00053;AF_TGP=0.00020;ALLELEID=51666;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221576|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_cancer,_non-polyposis|none_provided|not_provided;CLNHGVS=NC_000003.12:g.37020402T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_004453|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:12694|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.977T>C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837305;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751049 3 37020407 90458 C T . . ALLELEID=95932;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37020407C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.982C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779058 3 37020411 17085 A C . . ALLELEID=32124;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37020411A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_012918|OMIM_Allelic_Variant:120436.0008|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.986A>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750710 3 37020411 90460 ACAT A . . ALLELEID=95934;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37020413_37020415del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.988_990del;GENEINFO=MLH1:4292;MC=SO:0001822|inframe_deletion,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751197 3 37020418 90461 GA G . . ALLELEID=95935;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020419del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.994del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750533 3 37020428 89601 C T . . ALLELEID=95075;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37020428C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1003C>T;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607812 3 37020429 89602 TG T . . ALLELEID=95076;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020432del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1007del_1;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750434 3 37020434 89604 T TC . . ALLELEID=95078;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37020436dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1011dup|Invitae:1133499;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750677 3 37020434 89603 TC T . . ALLELEID=95077;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020436del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1011del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750677 3 37020440 89606 TC T . . ALLELEID=95080;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020442del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1017del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750339 3 37020446 89607 AG A . . ALLELEID=95081;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37020448del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1023del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749837 3 37020450 89608 T TG . . ALLELEID=95082;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020451dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1026dup;GENEINFO=MLH1:4292;MC=SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778881 3 37020462 89610 A G . . ALLELEID=95084;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020462A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1037A>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751609 3 37020463 89616 G A . . ALLELEID=95090;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37020463G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1038G>A;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751715 3 37020463 89617 G C . . ALLELEID=95091;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020463G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1038G>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751715 3 37020463 89618 G T . . ALLELEID=95092;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37020463G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1038G>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751715 3 37020464 89613 G C . . ALLELEID=95087;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37020464G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1038+1G>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=3;RS=267607816 3 37020514 89614 C T . . AF_ESP=0.00484;AF_EXAC=0.00161;AF_TGP=0.00799;ALLELEID=95088;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37020514C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1038+51C>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55986674 3 37020549 89615 T C . . AF_TGP=0.30931;ALLELEID=95089;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37020549T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1038+86T>C;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2286939 3 37021468 89611 G T . . AF_TGP=0.29014;ALLELEID=95085;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37021468G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1038+1005G>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3774338 3 37023307 89620 ACACTGTCTACTTGGAGATAGCATTAGATCCCACAGGTTGAGGGTGCAGTCCCCTAGACTGCCCCCAGTCTCCTGCTTCAGACACCAGTCACAAGTCCAGGACTCTAGAAGTTCTGACCAGTTTCAAGTTGGGGTTCCCACAACCCCCCACTTTATTTTTGATTAATTTGCTGGAGTGGCTCATAGAACTCAGGGAAACACTTAGTTTTCTGGACTTATTACAAAGATTTAAAAAGATACCAATAAATAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGCAGGACCCCTATGGAATGAGGGTCTTATGACCCACAATCAAATTAGAGTCCTGCCTTGGGCAAGTGAAAGGAAAGCAGGAGAAGGTAAGAGAAATTCTGTTGCCTAAGACCTTCTGAGGCCTAAAGCACCCCAACATTATAACAGAAGACGATAACAGGACTATGGGAGTTATGAGCTGGGAACCTTGGACAAAAATATATACATATTAAATAAATATTAAGTGTATATATATACTTACGTATATTAAGTGTATGTGTGTGTGTGTATATATATATTTTTTTAATTTACTGGTTGGTTTTGGGAAGCAGAAATTACCATAACTACTCTTAAAAATCTTTTAAGTCTCTTTGAAGTTAGAAAAGTCACTGTACCTTTTTGTTTCCATTGGCCCTGTACTTCTTATTATACCCCAGCAGGAGGAGCATAATGTGTTGTTATATCATTCTGGTGATAAGATTCATAAGTGGGTTCAGCTGGTGACAGCCTGATTCCCTCATTGTAAACTTATCCATCAACATGTAGCTTAATCGTTTCACCTTTTGTGATGACCATTACCTGAATCAGTTATTTCATTAGATTGCAAGATTATGCTTTTCTGATTTTATCATTTCTTCTGTATTGACTGTAATTCTTTGGTATAGAAGAACTTTCCCTTGTTAATAGCTATTTGGTTGTCCTGAAGTACAGTTCTTACTAGAAAGTAAGACCAAATGCTGAATTATATCCCTCTAGCTATCAATTTTCGAAGGAATGAATGGTGTCCTAGTAATTTCCAGTGGTGTTTAATTACGTTTTCCCTTCTCTTTCTCCTTCTCTTATTCCCTCCCTCTCCATCTCCTCCCTCCTCACTTTCAGTTTTTTGCTCTTTCAGTATTTTGTCATAGCTGTTAACAGAGCAACATATTTTAATCAATTGTAGTCATTTTTCTTTTTGGTGCTCAAATTATCCCGTCTTAGTCCCATGGAAGCAAGCCCTTGGAGCTAGGGCCCTCTACCTTTTGATGGATTTCCATTTGTCTTGATAATTTCCTTGTTTCTGACAAGACAAGATGTTGCAGGCACATTTTATACTTTCCCAGCCCAAACCCTGGAATAGGCCTTTTCTCCGAGGAGCTCTAGTTCATTTTAGTGGGAAATGGTATTTAGAGACTATAATCTGGGATCTGGGAGTCCTCATTGCTACTGAGTAGTCATTACTTTTAGGCTTTTCCAGTGGTCAGAGCTAGGAAATATGTATATTTAAAAATGGACAGTTGAATGGTTGTTGCCAGGAGCTGGGAGGAAGGGGAAGTGAGAAATTGTTTAATGGGCACAGAGTTTCAGTTTGGGGAAGATGAAAAAGTTCTAGAGATAGCTGGTGGTGATGGTTGCGCAACAATGTAAATGCCACTGAGCTCTCATTTAAAAATGGTTAAAATGGTAAATTTTATATATATTTTACCACAATAAAAAAAAGTCTTCTTCTGGGAGCACCCCCCCAAGACAAAAATATGAAAATTTTACACTGATACTTCCATTTCAAGATAATTTTAAGATTATAAGGATTTTGCTTAATTCTTGAATTTTATACCTGTAAACCTTTTATACTTCAAATTTCGGGCAGAATTGCTTCTATAACAATGATAATTATACCTCATACTAGCTTCTTTCTTAGTACTGCTCCATTTGGGGACCTGTATATCTATACTTCTTATTCTGAGTCTCTCCACTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTAATACAGACTTTGCTACCAGGACTTGCTGGCCCCTCTGGGGAGATGGTTAAATCCACAACAAGTCTGACCTCGTCTTCTACTTCTGGAAGTAGTGATAAGGTCTATGCCCACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATATTTCTAGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAGCCCCTGCTGAAGTGGCTGCCAAAAATCAGAGCTTGGAGGGGGATACAACAAAGGGGACTTCAGAAATGTCAGAGAAGAGAGGACCTACTTCCAGCAACCCCAGGTATGGCCTTTTGGGAAAAGTACAGCCTACCTCCTTTATTCTGTAATAAAACTGCCTTCTAACTTTGGCTTTTCATGAATCACTTGCATCTTCTCTCTGCCTGACTTGCCCTCTGGAATGGTGCTGGAATGGTCCTGTGGCCTTGTCCACTGTCTGCCTTTGACCATAACTTGAAAGTCACCCACCATAGTGTCCTTTGAAATAACTTAAATGTCCACAGTTCCAAGCATGAGTTAAAAACACTTCAGAATGTAGAGTAGTTGTTCAATTGAATAAACACACACACCAGAAAAAAAAGCAAGTTTATCTTTTATTTTTAGTAAAGAATTTTGATAGAGCCTCAACACCAGAAATGGCTAGAGAGAGAAGCCTAACATATCTGGAGGATTATTTTTCATCCTACTTAAAGCTGCTTTCACTTTTTTCAGGAAAAAACACACGTTCTGAATCTAATTTATAAAACTCCCTGGCCGGGTGCTGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAAATCAAGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGACGTGGTGGCGCATGCCTGTAATCCCCGCTACTCGGGAGGCTGAGACAGGAGAATGACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAACAAACGAACAAACAAAAACCCCAAAAATCCCTGAAGTACGTGAGCTAGTGGTGAAAGAAAGCTGGAGAAAAGG A . . ALLELEID=95094;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37023308_37026834del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1039-2329_1409+827del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant;ORIGIN=1 3 37024960 89624 ACCCTGGAATAGGCCTTTTCTCCGAGGAGCTCTAGTTCATTTTAGTGGGAAATGGTATTTAGAGACTATAATCTGGGATCTGGGAGTCCTCATTGCTACTGAGTAGTCATTACTTTTAGGCTTTTCCAGTGGTCAGAGCTAGGAAATATGTATATTTAAAAATGGACAGTTGAATGGTTGTTGCCAGGAGCTGGGAGGAAGGGGAAGTGAGAAATTGTTTAATGGGCACAGAGTTTCAGTTTGGGGAAGATGAAAAAGTTCTAGAGATAGCTGGTGGTGATGGTTGCGCAACAATGTAAATGCCACTGAGCTCTCATTTAAAAATGGTTAAAATGGTAAATTTTATATATATTTTACCACAATAAAAAAAAGTCTTCTTCTGGGAGCACCCCCCCAAGACAAAAATATGAAAATTTTACACTGATACTTCCATTTCAAGATAATTTTAAGATTATAAGGATTTTGCTTAATTCTTGAATTTTATACCTGTAAACCTTTTATACTTCAAATTTCGGGCAGAATTGCTTCTATAACAATGATAATTATACCTCATACTAGCTTCTTTCTTAGTACTGCTCCATTTGGGGACCTGTATATCTATACTTCTTATTCTGAGTCTCTCCACTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTAATACAGACTTTGCTACCAGGACTTGCTGGCCCCTCTGGGGAGATGGTTAAATCCACAACAAGTCTGACCTCGTCTTCTACTTCTGGAAGTAGTGATAAGGTCTATGCCCACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTGAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATATTTCTAGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAGCCCCTGCTGAAGTGGCTGCCAAAAATCAGAGCTTGGAGGGGGATACAACAAAGGGGACTTCAGAAATGTCAGAGAAGAGAGGACCTACTTCCAGCAACCCCAGGTATGGCCTTTTGGGAAAAGTACAG A . . ALLELEID=95098;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37024963_37026034del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1039-675_1409+26del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant;ORIGIN=1 3 37025559 89625 A G . . AF_TGP=0.24641;ALLELEID=95099;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37025559A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:144|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1039-78A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11129748 3 37025603 89623 TATATA T . . AF_ESP=0.58413;ALLELEID=95097;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37025604_37025608del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1039-33_1039-29del;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148615368 3 37025629 36539 T A . . AF_EXAC=0.00014;ALLELEID=45201;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000003.12:g.37025629T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3303|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A5|Illumina_Laboratory_Services,Illumina:262058|Mayo_Clinic_Laboratories,Mayo_Clinic:145|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1039-8T>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=193922367 3 37025635 89621 A G . . ALLELEID=95095;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025635A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1039-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607815 3 37025635 89622 A T . . ALLELEID=95096;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025635A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1039-2A>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607815 3 37025636 89619 G A . . ALLELEID=95093;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37025636G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS971800|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1039-1G>A;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607819 3 37025638 89629 C A . . AF_ESP=0.00008;AF_EXAC=0.00009;ALLELEID=95103;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37025638C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1040C>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=201541505 3 37025643 89630 C CT . . ALLELEID=95104;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37025644dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1046dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267607822 3 37025647 89633 CA C . . ALLELEID=95107;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37025648del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1050del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778883 3 37025657 89635 TG T . . ALLELEID=95109;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025659del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1061del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750472 3 37025665 89636 CTGGGGAGA C . . ALLELEID=95110;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025669_37025676del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1071_1078del;GENEINFO=MLH1:4292;MC=SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant;ORIGIN=1;RS=587778884 3 37025666 89637 TG T . . ALLELEID=95111;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1072del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778885 3 37025697 89642 AC A . . ALLELEID=95116;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025699del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1101del_1;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750715 3 37025724 89644 G GAT . . ALLELEID=95118;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025726_37025727dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1128_1129dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750305 3 37025726 89643 T C . . AF_EXAC=0.00007;ALLELEID=95117;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37025726T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2845653|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1128T>C;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=267607824 3 37025730 89647 GTC A . . ALLELEID=95121;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025730_37025732delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1132_1134delinsA;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778887 3 37025734 142276 A G . . AF_ESP=0.00015;ALLELEID=151990;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37025734A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2682993|UniProtKB_(protein):P40692#VAR_022667;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143009528 3 37025742 89650 C CA . . ALLELEID=95124;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025743dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1145dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778889 3 37025746 89652 TG T . . ALLELEID=95126;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025748del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1150del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749965 3 37025749 41632 T A . . AF_ESP=0.00008;AF_EXAC=0.00278;AF_TGP=0.00519;ALLELEID=50071;CLNDISDB=Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0003059,MedGen:CN296287|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lung_adenocarcinoma|Adenocarcinoma_of_stomach|Bile_duct_cancer|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37025749T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_004454|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1151T>A|Illumina_Laboratory_Services,Illumina:160796;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=3;RS=63750447 3 37025769 89672 C T . . ALLELEID=95146;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37025769C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1171C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=587778894 3 37025787 89673 CT C . . ALLELEID=95147;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37025788del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1190del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750749 3 37025790 89674 C T . . ALLELEID=95148;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37025790C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1192C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750483 3 37025804 89679 A AC . . ALLELEID=95153;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025808dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1210dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778898 3 37025807 89678 CCT C . . ALLELEID=95152;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37025808_37025809del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1210_1211del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751015 3 37025814 89680 A AGTCAGCC . . ALLELEID=95154;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37025815_37025821dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1217_1223dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778899 3 37025815 41634 G A . . AF_ESP=0.00138;AF_EXAC=0.00093;AF_TGP=0.00040;ALLELEID=50073;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Muir-Torré_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000003.12:g.37025815G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_012919|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1217G>A_1|Mayo_Clinic_Laboratories,Mayo_Clinic:151|Illumina_Laboratory_Services,Illumina:118309;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41294980 3 37025815 89681 GT G . . ALLELEID=95155;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025816del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1218del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778900 3 37025823 89683 C T . . ALLELEID=95157;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37025823C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1225C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751153 3 37025848 89686 CAG C . . ALLELEID=95160;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37025850_37025851del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1252_1253del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751118 3 37025858 89689 TA T . . ALLELEID=95163;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025859del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1261del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750293 3 37025874 89691 C T . . ALLELEID=95165;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37025874C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750316 3 37025904 89695 GC G . . ALLELEID=95169;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025908del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1310del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750748 3 37025919 89696 G A . . AF_ESP=0.00031;AF_EXAC=0.00039;ALLELEID=95170;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN221576|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000003.12:g.37025919G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:153|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A6|UniProtKB_(protein):P40692#VAR_012920|Illumina_Laboratory_Services,Illumina:840951|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1321G>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:11613;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750365 3 37025931 89699 CA C . . ALLELEID=95173;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025932del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1334del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749845 3 37025940 89701 GA G . . ALLELEID=95175;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025941del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1343del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749981 3 37025941 89703 A AG . . ALLELEID=95177;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025946dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1348dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778906 3 37025945 89702 GGATACAACAAAGGGGACTTC TAAA . . ALLELEID=95176;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025945_37025965delinsTAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1347_1367delinsTAAA;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778905 3 37025950 89704 CA C . . ALLELEID=95178;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025952del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1354del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750071 3 37025956 89707 A AG . . ALLELEID=95181;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025960dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1362dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607821 3 37025956 89706 AG A . . ALLELEID=95180;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37025960del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1362del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607821 3 37025974 89709 C CA . . ALLELEID=95183;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37025975dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1377dup|Invitae:4842146;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750020 3 37025974 89708 CA C . . ALLELEID=95182;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37025975del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1377del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778908 3 37025974 89711 CAG C . . ALLELEID=95185;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37025976GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1380_1381del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778909 3 37025979 36540 A T . . ALLELEID=45202;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37025979A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1381A>T|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A7|Mayo_Clinic_Laboratories,Mayo_Clinic:154;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=3;RS=63750540 3 37025994 89713 TC T . . ALLELEID=95187;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37025996del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1398del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750713 3 37026008 89718 G A . . ALLELEID=95192;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37026008G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1409+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607825 3 37026008 89719 G C . . ALLELEID=95193;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37026008G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1409+1G>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607825 3 37026009 89720 T G . . ALLELEID=95194;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37026009T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1409+2T>G;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587778911 3 37027132 89716 GGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTACACACAACACACACACACACACACACACACACACTAGCCAGGCATGGTGGCAAATGCCTGTAGTCTCAGCTACTCCGGAGGCTCAGGTGGAAGGATCACTTGAGCCCAGGAGGTTGGGGCTGCAGTGAGCCATGATCACGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGATCCTCTGTCTCAAAAAAAGAAAAAAAAAAAGATTTTTTTCCAGGGAATAATAAAGGAAGCTAATATTTATGGAGCATCTACGGTGTGCCAAATACTTTGCATACGTTATCTCATTTAATGCTCTTATCCCTGCAGGGAAAGTATTAACATTTGTTTATCACTTGCAGAACTAAGTGATATTTACCACAGAGTAGACAAATATTTTCAAGCCCAAAATCAAGTGGTATCACTTTTCTGCTGAGAATGTTTCAGTGGTTTCCTTTGCTCTTGGGATAAAACTTAAATCCCTCACCCTACCCTTGCTCCAACCCTCCACTTTCCTTCTCCCATGTGGTGATTTGGCCATACAGCTCTTGTGGCTGATCTGAACTGACTGAGCTTTTTACCCTTTTGCTCTTGCTGTTCTTACAGCCTGGGAACCCCCTGGTTACCTCTTGGCTTGGTGTGGTGGCTTACATCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGACGGATCACCTGAGGTTGGGAGTATGAGACCAGCAAGTCACCTCTTGCCAGTGGCCTTTGTCCATTGAGTCTGAAGTTCTTTCTCCTCTCATTTCCCCATCATTCTATTATGCTACCTTGTTTTATTTTCTTCATTGTGTTTATTGATACTTAAAATGATCTCTTTTCTGTTGCTGTTTGACTCTCCCACTAGAAAGTAAGCATTGTAGATCGGGCACTGTGGCTCACACCTGTAATCCCAGCACTTTGTGGGGCAGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGCTGGGTATGGTGGCTCGTACCTGTAATCCCAGCTACTCAGGAGGCTGAGACATGAGACTCACTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACACCACAGCACTCCAGCCTGGAAGACATAGTGAGACTCTCTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGTAAGCATTGTGAGGGCAGGTACCTTCTCTGTTTTGTTCATTGCTGGATGTAGTTAGTATACAGCAGTATCTGATGGATGGATAGATGGAGGAATGAATGAATGAGACTTCACAAATTCAGCTCACTTGCTCAAGGCCCTGCAGCTCTACGGGATGAAGCTATACTCCAGAGTCCTGCTACATTGGCTGTGTGGCCAGCTGCTGGGATCTGAGGGTTGTCAGATAAGCAGTCTACCAGAGAACAGACTGATCTTGTTGGCCTTCTGCCAGCACAGGGGTTCATTCACAGCTCTGTAGAACCAGCACAGAGAAGTTGCTTGCTCCTCCAAAATGCAACCCACAAAATTTGGCTAAGTTTAAAAACAAGAATAATAATGATCTGCACTTCCTTTTCTTCATTGCAGAAAGAGACATCGGGAAGATTCTGATGTGGAAATGGTGGAAGATGATTCCCGAAAGGAAATGACTGCAGCTTGTACCCCCCGGAGAAGGATCATTAACCTCACTAGTGTTTTGAGTCTCCAGGAAGAAATTAATGAGCAGGGACATGAGGGTACGTAAACGCTGTGGCCTGCCTGGGATGCATAGGGCCTCAACTGCCAAGGTTTTGGAAATGGAGAAAGCAGTCATGTTGTCAGAGTGGCCACTACAGTTTTGCTGGGCAAGCTCCTCTTCCTTTACTAACCCACAATAGCATCAGCTTAAAGACAATTTTTGATTGGGAGAAAAGGGAGAAAAATAATCTCTGTTTATTTTAATTAGCATTAATTGGTATTCTTGTTAAACCATAGGAGTCAGAGTAAATCAGCCATTTCACCAATTTTCAGTTTGTTTCTGTCTTAGCTAACAGCAGTGTAATGGTCAGCAAAATTCTTATCTTGTGTACTGAATGGCATGTCCTGTTGCTGAAAGTGCACAGGCTTGGGAGGTAGCCATGAGCTCAAATCCTGGCACTACCACCTCTCTTGTGTGACCTTAGACTCCTGACCTTTCTATGCCTCAGTTCTTTCTTACCTATAAAATGAAATTAATTTTACCCTTAAAGATCATCGTGCTGATTAGAGATAAAATATAAATAATAACACTTGTTACAGAGCAAGGAGTTGACACTTTTATATTCTGAAGACAAAGTGGTAAATCATTATCATCTATGTCAGAAATAGCTTTTGAGAATACCTGAGTATAGAACTATCTTGATCCCTGTTACTTCAAAACTAAAATAATGGTTTTAGGAATTAAAAGGTGAGGCTAGTCACCTCCAAGGGATGAACTGACTCAGGGATTGAGGTATATAACAGTGAACTGGTCCAAACAACAGTCCTGACCCCACTTTATGAGTGAGACTATGAGTAATGGTCTAAGTGTAGACATCATTGTCCAGGGCTCCAGTAGGCAGCTCTGTACTTGAGAATTTAGCAGTGACCCTTCTATTTTTCATCTATTATACCTTTTTTTTTTTTTTTTTTTGACACAGGGTCTCACTTTGTCACCCAGCTGGAGTGTGGTGGTGCAATCATGGCCCACTGCAGCCTCAACCTCCCTGGGCTTAGGTGATCCTCCCACCTCAGCTTCCTGAGTAGCTGTAATTACAGGCATGTGCCATCATGCCCAGCTAATTTTTCTTTTCTTAGAGGTGGGGTTTTGCCATGTTTCCCAGGCTGGTCTTGAACTCCTAGGCTCTCACCTCTGTCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTATTACACATTTCTTAATTAAAGTAGTCAAATTTGAAAACTGTTACAAAGTGTATCTTAAAATACGACGATCTGGTTTAATTTTTAAAAGATATGAGTAGCCAAGGAGCAATTCTGTGCCTTTCCCACTAGTCCCTAACCTTTTAAAGCAGCTGCTTCTTGGCTGGGCTCAGTGGTTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATGAGTCGAGATCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATAGAAAAAAATAGCTGGGCGGGGTGGCGGATGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACACGGGAGGCAGAGGTTGCAGTGAGTCGAGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAGGAAAAAAAAAAAAAAAACCCATCTGCTTTTGATTCAGTGGCTTCTTTAATTTTGTCGGTCTCAGTCACCATTTGTCTAAGCAAATTCAGGCAGGCTTCACCTTGCCTTTCTACATTTGTTCCCTTTTCTTAGCATTTTGGGCCTTTGTTTACACGTGGGAAAAGACCCACAGGTCGTCTCTCCCTTTGGGCAGGATACAGGCTTCCTGTGACTGAGGTTTTGCTAGCTGTAGAAGTGGCTGCCAATTGGCTTCTGGTTTTTATTTCCATGATTTGCTCCAGTGGCTCTTCCCTTCCATCATTGTTAGCTTTCAAGCTAGGAACTTTTAAAATGCTTTTAAATAAAAGTGAGCTGTTACTTGATGCATTTAGCAGTCTTCCTCACAGTGGTTTTGATAGACAGACTCCCTCAGTTTGGAATTTATGAGTTTTCTTTAAGGGTTTGTCTCCCTCATGTATAGCAGGCTGTTGAAAGTTACAATGTCAATAACTTTCTGAATAGTATCAAACTGTTTTCAGTGCAGTGTATTAACAAAACTAACCTGCCTCAAGTTTGGTCAGCTTTGGAGTCTTACTGAGGCTAAAATGATAAATCTAAATGATTTAAAATTGTGTATTCCTACACAGTATCTCACTTAATTATGTAATAGTCTTGTGAGTGAGGCAGAGCAGATGCCGTTTTCTCTATTTTAAAGATGAGGAAAATGGAATGGAAAATGGAAAGGACAGACTAATTGCAACATCCTCGCAATCAAAAACAGGCCCAGGTTCATGCCTTGTTGGCAGTGGGTTGCTACTGGCTGTGGCCTTCATGCAGGAAGGCTAGATGCATAACCAGGTCAACAGCCCGTGCAGGACAAGCACGCCATGTAATTCTGATTCCATCGACTGAGGCTGGTGTTTTCAAACGTGCTGGTGTAGGGTCTTACAGACAGAGTCATCTGTGCTATGGGGAATGGAATGTGCTCTTGCTTTGGAGCCAGAACTCCTCTGAAGCTCCCACCACCTACACCATTCAGAGGCCAGACAGAAATTTGTTCACCATTTTGGGCATGATTTTCGTGCTTTTGTAAAATGTGCTTCACTGCAGCCCTTACTGGGCTGTGGTGATGAACACTTAAGATACTGTGTGTGTGCTTTATAATCTGTAAGGCACTGTTCAAGGGGAGGGACCTCTGCCATGAGCCCCTACCCACTGGTATCTGGTTGACATCCAAAGCCCCAGCCTGGGAGAAGCTGATTCTCTAGTTGAATGCTGTATAGGGATTTGACTGAGGCTCAGATTTGGTGAGGAAGACCACTAACCTTAACAGACCAACAGGCTGGCTACTCCCTGATGAAGTTCCCCAGGCCATGAAAGAAGTAAGAGATACATTCCTTGTAACAGCTTTCTTAGTTGCACCTGTATGATTATTTGATCAGTGTGTTGTCTGTGCAGGGATCATGTCTGTGGAGCTCACCACCTCGTCCTCGGTGCTGAGCAGAGTGCCTGGCATGTGTACTCAGTAGATATTTGCTAAGGGAGCGAGTCAGTGATTGAGAGGAGCAGCCTGGGAGGTAAAGCCCTAGAATCTTTATTTTAAAGGGATATCAAAGTTGAACATTCAGTTAGACAGTTCTCTTGAGTCCAGGGATTTACCCATCCATGGTGGACACACTTTCAGTTAAAAAGTAAGGTTAATTTTGACAGGTTGCAGTATCCAGGCAAGCATTCTATGGAATAAGGCTCATCTCAGGGATTAGTAATGACTGAATTAACTTACTGCTAGTCCCATAATTTTGACGTTAATTAATGGGGTTAAGAAATGTCATAAGCTATTTGGTACCATTTAAAGTGAAAATACCCTTAACGTTTTTTGCCTCCAGATATCCACACTTAATTTCATTTTCTTGCTCTTTGGTGAACAGTCCTGGGTCTGAATGTATATATCCATGGTTTGTCACTAGGTGACAGGTTTTTTTGGAACAAGAAATCAGTTCAGTGAACATTTGTCAAGTATCTTCTCTGTAAAAAGTGTAATGTGCCAAGCTCAGAAGTAGGAAGTGAAATGGATAAACTATGACCCCTGCCTTAAAGAACACCATGGTGTTGTATGGGAATTGTTTAGGTAGAATGAAAGAAATCCTCTAATAGAGATATGAGGCCAGTTCAGCAGAAAGCCAGGGTGAGATCTCCTGAGAGGGATGGAAGGGTGTCTTGATCATCTCTGGTAGCAGCAAAGGCACTGGCATACAGTGGCCACTGGAAGACAACCAGCAGGGGATGGGGGCGTTTACCCTTGCAAGTGAGCATTAGGAACTAGAGGACTGATTGCCCTTTCTTCAGCTTTGGTTTCCCTTGCTGCAGAAAAAGATGCTGAGACTCATGGCCTCGGTTATGAACTCAGATATGTGGTTTGGCTTTGAAGCACAGATGGATTTTGTCCGATTTTGGCAGGGAAATGCCTACAGACAGCACTATGGGCATATTTAGGTTAGGGACGAAATGCAAGTTGATTAAGTCCTGATAAGAGGCTGTGAAGAGGTCCAAGAAGCCTCACAATGCCCAATGAAGAAAAGCCCTGTGCTTGGTGCTGCCGCCTCCCTTCCCCGTCCTGCTGGCAGGGCTGCGCTTCAGTAGCTCTGGATGCGTCAGA G . . ALLELEID=95190;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37027134_37033187del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1409+1127_1558+4255del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 3 37027162 89717 AGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTACACACAACACACACACACACACACACACACACACTAGCCAGGCATGGTGGCAAATGCCTGTAGTCTCAGCTACTCCGGAGGCTCAGGTGGAAGGATCACTTGAGCCCAGGAGGTTGGGGCTGCAGTGAGCCATGATCACGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGATCCTCTGTCTCAAAAAAAGAAAAAAAAAAAGATTTTTTTCCAGGGAATAATAAAGGAAGCTAATATTTATGGAGCATCTACGGTGTGCCAAATACTTTGCATACGTTATCTCATTTAATGCTCTTATCCCTGCAGGGAAAGTATTAACATTTGTTTATCACTTGCAGAACTAAGTGATATTTACCACAGAGTAGACAAATATTTTCAAGCCCAAAATCAAGTGGTATCACTTTTCTGCTGAGAATGTTTCAGTGGTTTCCTTTGCTCTTGGGATAAAACTTAAATCCCTCACCCTACCCTTGCTCCAACCCTCCACTTTCCTTCTCCCATGTGGTGATTTGGCCATACAGCTCTTGTGGCTGATCTGAACTGACTGAGCTTTTTACCCTTTTGCTCTTGCTGTTCTTACAGCCTGGGAACCCCCTGGTTACCTCTTGGCTTGGTGTGGTGGCTTACATCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGACGGATCACCTGAGGTTGGGAGTATGAGACCAGCAAGTCACCTCTTGCCAGTGGCCTTTGTCCATTGAGTCTGAAGTTCTTTCTCCTCTCATTTCCCCATCATTCTATTATGCTACCTTGTTTTATTTTCTTCATTGTGTTTATTGATACTTAAAATGATCTCTTTTCTGTTGCTGTTTGACTCTCCCACTAGAAAGTAAGCATTGTAGATCGGGCACTGTGGCTCACACCTGTAATCCCAGCACTTTGTGGGGCAGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATAGCTGGGTATGGTGGCTCGTACCTGTAATCCCAGCTACTCAGGAGGCTGAGACATGAGACTCACTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACACCACAGCACTCCAGCCTGGAAGACATAGTGAGACTCTCTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGTAAGCATTGTGAGGGCAGGTACCTTCTCTGTTTTGTTCATTGCTGGATGTAGTTAGTATACAGCAGTATCTGATGGATGGATAGATGGAGGAATGAATGAATGAGACTTCACAAATTCAGCTCACTTGCTCAAGGCCCTGCAGCTCTACGGGATGAAGCTATACTCCAGAGTCCTGCTACATTGGCTGTGTGGCCAGCTGCTGGGATCTGAGGGTTGTCAGATAAGCAGTCTACCAGAGAACAGACTGATCTTGTTGGCCTTCTGCCAGCACAGGGGTTCATTCACAGCTCTGTAGAACCAGCACAGAGAAGTTGCTTGCTCCTCCAAAATGCAACCCACAAAATTTGGCTAAGTTTAAAAACAAGAATAATAATGATCTGCACTTCCTTTTCTTCATTGCAGAAAGAGACATCGGGAAGATTCTGATGTGGAAATGGTGGAAGATGATTCCCGAAAGGAAATGACTGCAGCTTGTACCCCCCGGAGAAGGATCATTAACCTCACTAGTGTTTTGAGTCTCCAGGAAGAAATTAATGAGCAGGGACATGAGGGTACGTAAACGCTGTGGCCTGCCTGGGATGCATAGGGCCTCAACTGCCAAGGTTTTGGAAATGGAGAAAGCAGTCATGTTGTCAGAGTGGCCACTACAGTTTTGCTGGGCAAGCTCCTCTTCCTTTACTAACCCACAATAGCATCAGCTTAAAGACAATTTTTGATTGGGAGAAAAGGGAGAAAAATAATCTCTGTTTATTTTAATTAGCATTAATTGGTATTCTTGTTAAACCATAGGAGTCAGAGTAAATCAGCCATTTCACCAATTTTCAGTTTGTTTCTGTCTTAGCTAACAGCAGTGTAATGGTCAGCAAAATTCTTATCTTGTGTACTGAATGGCATGTCCTGTTGCTGAAAGTGCACAGGCTTGGGAGGTAGCCATGAGCTCAAATCCTGGCACTACCACCTCTCTTGTGTGACCTTAGACTCCTGACCTTTCTATGCCTCAGTTCTTTCTTACCTATAAAATGAAATTAATTTTACCCTTAAAGATCATCGTGCTGATTAGAGATAAAATATAAATAATAACACTTGTTACAGAGCAAGGAGTTGACACTTTTATATTCTGAAGACAAAGTGGTAAATCATTATCATCTATGTCAGAAATAGCTTTTGAGAATACCTGAGTATAGAACTATCTTGATCCCTGTTACTTCAAAACTAAAATAATGGTTTTAGGAATTAAAAGGTGAGGCTAGTCACCTCCAAGGGATGAACTGACTCAGGGATTGAGGTATATAACAGTGAACTGGTCCAAACAACAGTCCTGACCCCACTTTATGAGTGAGACTATGAGTAATGGTCTAAGTGTAGACATCATTGTCCAGGGCTCCAGTAGGCAGCTCTGTACTTGAGAATTTAGCAGTGACCCTTCTATTTTTCATCTATTATACCTTTTTTTTTTTTTTTTTTTGACACAGGGTCTCACTTTGTCACCCAGCTGGAGTGTGGTGGTGCAATCATGGCCCACTGCAGCCTCAACCTCCCTGGGCTTAGGTGATCCTCCCACCTCAGCTTCCTGAGTAGCTGTAATTACAGGCATGTGCCATCATGCCCAGCTAATTTTTCTTTTCTTAGAGGTGGGGTTTTGCCATGTTTCCCAGGCTGGTCTTGAACTCCTAGGCTCTCACCTCTGTCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTATTACACATTTCTTAATTAAAGTAGTCAAATTTGAAAACTGTTACAAAGTGTATCTTAAAATACGACGATCTGGTTTAATTTTTAAAAGATATGAGTAGCCAAGGAGCAATTCTGTGCCTTTCCCACTAGTCCCTAACCTTTTAAAGCAGCTGCTTCTTGGCTGGGCTCAGTGGTTCACCCCTGTAATCCCAGCACTTTGGG A . . ALLELEID=95191;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37027163_37030317del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1409+1156_1558+1385del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 3 37028730 89722 C T . . AF_TGP=0.05012;ALLELEID=95196;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000003.12:g.37028730C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1410-54C>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:26837;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7633154 3 37028781 89727 CAGAA C . . ALLELEID=95201;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37028785_37028788del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1411_1414del|Invitae:554953;GENEINFO=MLH1:4292;ORIGIN=1;RS=63751592 3 37028783 89728 G GA . . ALLELEID=95202;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028786dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1412dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751677 3 37028784 89734 AAAGAGACATCGGG A . . ALLELEID=95208;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028789_37028801del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1415_1427del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778912 3 37028785 89733 AAG A . . ALLELEID=95207;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37028787GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1415_1416del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281864936 3 37028785 89730 AAGAG A . . ALLELEID=95204;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028787_37028790del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1413_1416del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281864936 3 37028787 89731 G GA . . ALLELEID=95205;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028788dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1414dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751468 3 37028793 89736 TC T . . ALLELEID=95210;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028794del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1420del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750482 3 37028821 89740 GA G . . ALLELEID=95214;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028823del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1449del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778915 3 37028833 89744 C T . . ALLELEID=95218;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37028833C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1459C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=3;RS=63749795 3 37028833 89748 CGAAAG C . . ALLELEID=95222;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028838_37028842del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1464_1468del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778919 3 37028834 89747 GA G . . ALLELEID=95221;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028837del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1463del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749876 3 37028836 89746 A T . . ALLELEID=95220;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028836A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1462A>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=587778918 3 37028857 89753 A AC . . ALLELEID=95227;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000003.12:g.37028863dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1489dup|Invitae:914021;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750855 3 37028857 89752 AC A . . ALLELEID=95226;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37028863del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2381167|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1489del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750855 3 37028863 89754 CG C . . ALLELEID=95228;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028865del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1491del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751435 3 37028890 89759 G GT . . ALLELEID=95233;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37028894dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1520dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749916 3 37028890 89758 GT G . . ALLELEID=95232;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028894del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1520del;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749916 3 37028902 89761 C T . . ALLELEID=95235;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37028902C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1528C>T_1;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63749923 3 37028908 89762 G T . . ALLELEID=95236;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37028908G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1534G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751472 3 37028915 89764 A AT . . ALLELEID=95238;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028916dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1542dup;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750317 3 37028923 89765 G T . . ALLELEID=95239;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028923G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1549G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751705 3 37028925 89767 AC A . . ALLELEID=95241;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028926del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1552del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778925 3 37028926 89766 C CT . . ALLELEID=95240;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028926_37028927insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1552_1553insT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778924 3 37028927 89768 A AT . . ALLELEID=95242;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37028928dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4649709|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1554dup;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751689 3 37028931 89769 G GT . . ALLELEID=95243;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028931_37028932insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1557_1558insT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778926 3 37028933 89772 G T . . ALLELEID=95246;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37028933G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1558+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607832 3 37028934 89774 T G . . ALLELEID=95248;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37028934T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1558+2T>G;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607831 3 37028946 36541 G A . . AF_ESP=0.05874;AF_EXAC=0.03948;AF_TGP=0.05012;ALLELEID=45203;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000003.12:g.37028946G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A9|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3309|HGMD:CS052411|Mayo_Clinic_Laboratories,Mayo_Clinic:156|Illumina_Laboratory_Services,Illumina:82309|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1558+14G>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41562513 3 37031136 89773 A C . . AF_TGP=0.25320;ALLELEID=95247;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37031136A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1558+2204A>C;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3774335 3 37033177 89776 A G . . AF_TGP=0.04173;ALLELEID=95250;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37033177A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1558+4245A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3774332 3 37037015 89785 A G . . AF_TGP=0.24521;ALLELEID=95259;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37037015A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1559-3171A>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4678925 3 37038862 89778 ATGTAGTAACCCTGTGTGTCACGTGTGGATTTTGTTGGGCTTGCTAGCTGAGACTTGACAGTTTTCATCACTTCTGGGATATTCTCAGGTATTTTGTCTTCAAAGTCTTCAGATATTGTCCTCTTCCTGCCCTCTCTCCGACTCCTTCTGGAACATGAGTTATGTATTTATTATCTCCCATGTGCATAAGTTATCTTTACATATTTTCAATTTCTTTATCTTTCTGTGCTACATTCTGGATAATTTTGTTGATCTACCTTCCAGTTAATTAGCTTGTTAACTTTGTCAAATCTCTTTTTAAGTCTATCTTGATTTTTCTTTTCAATTATTGTATTTTTCATTTTTAAAAACTTTATGTGCTCTTTTGGAAATCTTGATCCCAGGAGATAGTGGATAGTGTCCTGCTGCTTACTCATGGTTTTAATAGTTCTTGAGCATGCTGAACATACTTATTTTATGTTATTTGCTAATCTTTCCAATTCCTGAAACCTTTACAGATCTCATTCTGTGGATTCTTCTGGATTCTAATTCATGGGGCATTTTTTTTGTTTTTTGTTAATTCCTCATACTTTATCTGTGGGGAATTACTTGAAGCCTGGGTTGACAATGAAATTCTGCAGAGAGAATTTGCATTTGATTCTACTGGAGGAACAGTCAGCCCCGATATCAGTTTAAATTAAAATCTCTGCTTAAGGTTTTCAGGCAACCTGCTTAGCATGAATCCTGGCTGGAAAAGCATGTGAGGACCAGTTTATGATTACACATTCACAGGGTGTCATGTTTTCTTCCAACACCAATGCTAGAGGTGGCAGTTTTGCTTACTGCCCTTGGAGGGACAGGGGAGTGGGCATGGGCATAGTAGTATGGTTTTCCTTTTCACTGGGGGTGCAGCCCTTGGAGTCTCAGCTTAATGTGTTGGGGAAGTGGTCTCCTATTAGACTCTCCATTTCAAACCATTCCATGATTTTGTCCTCCTTTTGCCACCTTCCGAGCCTGTAAAAACTAATGTTTGTGATTCCTGAGGTTTCTCTAATGTCTTTTAATAAAGTTGACCTCAGAGATCTCGTTACCTCTCTGAGTTCCTGCTTTGTCTTAGATTTTGATCCTTGAGTGTTCTTTAATCTTTTAGCAATTCCTTGTTGCATGTTAAAAGATTAGTTATATTTTATTCCTCATTTGTGTTCGTTTTCACCAGGAGGCTCAATTCAGGCTTCTTTGCTTACTTGGTGTCTCTAGTTCTGGTGCCTGGTGCTTTGGTCAATGAAGTGGGGTTGGTAGGATTCTATTACTTACCTGTTTTTTGGTTTTATTTTTTGTTTTGCAGTTCTCCGGGAGATGTTGCATAACCACTCCTTCGTGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCCAAGAAGCCTAGTCCTTGGTAGTTGCTCAGTGCCCTATAAATGTTGTGAACCAGGTGGTGAGGGTTTGGTGCTGCTAGAGAATTCTGGTATCTGCTCTGTGCAACAGAGTACTGTAGGTGATGCAAGAGAAAGAAGACCTGATGCCTTCTTTCCTCCCAGCTTTGAGAATGGAGCAAAGGCCTACCCCAGCCACCAAGTGAGCCAGTGGGCTTGATCAGCACAGGAAAGGTGACCCCGGCAGTTTCATTTGACTATTGCATGGCTGGCAACATTTCTATTGATTGTTTCCAGGGACCTTGGCGGATGAGCTCCTGTTGAGTCTAGCATCTCTGTTAAATCTGTTCTCAAATAGGTAATGCATATGGGAGGATGCTGCCACCTTGCATCTACTAGACATCACCTATCTACTGTGAGACTCTCCCTCTAAGCCCTGCTGTGGCCTCAGAGTGCTTATTGGCCCTGTGAGTGGGGCAGCCACTATACATTGCATGGAGTTGGTACATGAGATAGAAACCTATTCGCCATCCCTTGAAACTGCCCCAGTCCAGAAGCTTCCTGTTAGCACATGTACCTCCTTGTATGTATTCAGAACTCATTCCATTTAGGCTTGGAAACCCGTTTGGTGCAACTCTGTTCAAGTTCCATTGTCTGCTTTGAGAATGCTTGGGCTTGTATAGTGAGCTGTCACTTTTTAATTTGTTAGGAATTCTACTCGCCTTGCTTTTTCTTTTCCAGCATGTTTAAGGGAATGACCTCCAAGGCCCCAAATCACAGTTGTATTCATGTTCTTTCATTTCACAGATACAATCCAGGCCAGTCCCAGATTTGCAGCTGTTAATAAATGTGAATGGTTTTCCAGTAAGGGGGTAGAAAAACATAGGGAGAGAACCGGGTTCAGAGTTCAATATCTGGATTCAAGTCCTTCCTTTAGCACTTTACTAACTGATGTAGAATAAGTCAGCTACTCAATAGGTGCCTCAGTTTCCCCACCAAAATGCAGACATAGAAGGTGCTTTGTCTGCTTTGATGAGAAGTCTTTAAGCAAGTCTATGGGGTTCAATGTGTTTTAAGAACTATAAAGTACCATATAAATGTGGCCTTTATTCCCATTGTGTTCTTGGAAGTAATTCAATATAGTGTGTACTTCATAGCTGCTTTTGGACTATTGCCAGCCAGTGTATCATCCTAAACTACATGTCAGCATAGTATAATCCTGCCTTAGGTCTACTTTTGATTATTTAGGAAGACTCCCTGCCCTTCCTATACATTTCACATAATTTTTAATAAG A . . ALLELEID=95252;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37038864_37041877del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1559-1322_1668-391del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 3 37040184 89782 A C . . ALLELEID=95256;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37040184A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1559-2A>C;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607836 3 37040184 89783 A G . . ALLELEID=95257;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37040184A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1559-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607836 3 37040184 89784 A T . . ALLELEID=95258;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040184A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1559-2A>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607836 3 37040185 89779 G A . . ALLELEID=95253;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37040185G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1559-1G>A;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607837 3 37040185 89780 G C . . ALLELEID=95254;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37040185G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1559-1G>C;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607837 3 37040185 89781 G T . . ALLELEID=95255;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37040185G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1559-1G>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607837 3 37040197 89795 ATG A . . ALLELEID=95269;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040199_37040200del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1572_1573del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778928 3 37040199 89796 GTT G . . ALLELEID=95270;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040200_37040201del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1573_1574del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751613 3 37040201 89797 T A . . ALLELEID=95271;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37040201T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1574T>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=587778929 3 37040213 89798 CCTT C . . ALLELEID=95272;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37040215_37040217del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4842186|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1588_1590del;GENEINFO=MLH1:4292;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=587778930 3 37040217 89799 CGT C . . ALLELEID=95273;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040219_37040220del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1592_1593del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778931 3 37040236 89801 C T . . ALLELEID=95275;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37040236C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1609C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751277 3 37040239 633500 T G . . ALLELEID=621932;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040239T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1559575214 3 37040240 89802 G A . . ALLELEID=95276;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37040240G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1613G>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=587778933 3 37040241 89803 G A . . ALLELEID=95277;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040241G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1614G>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=267607842 3 37040246 89807 TGG T . . ALLELEID=95281;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040247_37040248del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1620_1621del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750036 3 37040248 89808 GC G . . ALLELEID=95282;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040249del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1622del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750824 3 37040251 89809 C T . . ALLELEID=95283;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37040251C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1624C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851855;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750192 3 37040265 89813 G GTTATA . . ALLELEID=95287;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040266_37040270dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1639_1643dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778934 3 37040267 89814 T A . . ALLELEID=95288;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040267T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1640T>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750300 3 37040271 89815 C G . . ALLELEID=95289;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040271C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1644C>G;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751087 3 37040276 89818 T C . . ALLELEID=95292;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37040276T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1649T>C|UniProtKB_(protein):P40692#VAR_043418;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750193 3 37040279 237316 A G . . ALLELEID=239175;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37040279A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750271 3 37040280 89820 C T . . ALLELEID=95294;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37040280C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1653C>T;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587778936 3 37040290 89823 C CTAAG . . ALLELEID=95297;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040291_37040292insAAGT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1664_1665insAAGT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607699 3 37040291 89822 T C . . ALLELEID=95296;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040291T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1664T>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587778937 3 37040294 89825 G T . . ALLELEID=95299;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37040294G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1667G>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63751596 3 37040296 89824 TAAATCA ATTT . . ALLELEID=95298;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37040296_37040302delinsATTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1667+2_1667+8delinsATT;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587778938 3 37041383 89830 T C . . AF_TGP=0.26298;ALLELEID=95304;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37041383T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1668-885T>C;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=748766 3 37042014 89828 C T . . AF_TGP=0.01458;ALLELEID=95302;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37042014C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1668-254C>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41552415 3 37042249 36542 A G . . AF_ESP=0.43833;AF_EXAC=0.37125;AF_TGP=0.31230;ALLELEID=45204;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000003.12:g.37042249A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3311|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1668-19A>G|Mayo_Clinic_Laboratories,Mayo_Clinic:160;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9876116 3 37042265 89829 C A . . ALLELEID=95303;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Carcinoma_of_colon|Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042265C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1668-3C>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607844 3 37042267 89826 G A . . ALLELEID=95300;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37042267G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1668-1G>A;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=267607845 3 37042267 89827 G T . . ALLELEID=95301;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042267G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1668-1G>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607845 3 37042267 89833 GT G . . ALLELEID=95307;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042268del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1668del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778939 3 37042269 89834 G T . . ALLELEID=95308;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042269G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1669G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751244 3 37042272 89835 G T . . ALLELEID=95309;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042272G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1672G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751081 3 37042276 219290 T C . . ALLELEID=220982;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37042276T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750059 3 37042276 89836 T G . . ALLELEID=95310;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colon_cancer;CLNHGVS=NC_000003.12:g.37042276T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1676T>G|UniProtKB_(protein):P40692#VAR_022668;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63750059 3 37042283 89838 C G . . ALLELEID=95312;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042283C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1683C>G;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751393 3 37042284 89839 C T . . ALLELEID=95313;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042284C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1684C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751460 3 37042288 89840 T TA . . ALLELEID=95314;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042289dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1689dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750464 3 37042288 89841 TACTC T . . ALLELEID=95315;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042290_37042293del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1690_1693del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607849 3 37042314 89845 GGT G . . ALLELEID=95319;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042315GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1717_1718del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751709 3 37042321 89846 T C . . ALLELEID=95320;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042321T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1721T>C|UniProtKB_(protein):P40692#VAR_004458;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=3;RS=63751608 3 37042323 89847 AG A . . ALLELEID=95321;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042325del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1725del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63751685 3 37042331 89857 G A . . ALLELEID=95331;CLNDISDB=Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102,SNOMED_CT:363406005|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Malignant_tumor_of_colon|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37042331G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:163;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=63751657 3 37042332 89848 G A . . ALLELEID=95322;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37042332G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=267607853 3 37042332 89849 G C . . ALLELEID=95323;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042332G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+1G>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=267607853 3 37042332 89850 G T . . ALLELEID=95324;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37042332G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607853 3 37042333 89852 T G . . ALLELEID=95326;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042333T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+2T>G;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267607856 3 37042334 89853 A T . . ALLELEID=95327;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042334A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+3A>T;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607851 3 37042336 89854 G A . . ALLELEID=95328;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042336G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+5G>A;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607850 3 37042337 89855 T G . . ALLELEID=95329;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37042337T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+6T>G;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587778940 3 37042598 89851 TGCCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGATGAAACCCTGTCTCTACTAAATTACAAATATTAGCAGGGTATGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGCAGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCCCTCAAAAAAATAAATATCTACTGACACTTAATACTTGGAAAGGGATAAAAATAAACATTGTCTAAAGCCGTGGTCCAAACACAACCCCTGCCAACAATTTTAGTCCATTTCTTCCAAGACTTTTTTTTTTCTATGCCTTTTGTGAAAACTGTCAAAAACTTTTTCAATGCTGAATTTTAGTTCTGAGTTAAAAATCATACTACCTGTTTATATGGTTTCATATCCACTTTTTTCATGTGATATACTCTACAAAAAGCCTGCTGAGATTTTGATTGGGATTATGTTGAATCTAGATCAATTTAGGGTGAAAAACTTTTGTTAGATAAATCCCTTAGTATTTCACATTTTTAAATGCTAAATGGCATTTTTCAAAAATTTTCTTTTTTCTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCAAAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCAAACTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTTAAACTATTTATAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCTCAAATTTTTTTTTTTTTTTTTTTTAAGAGACAGGGGTCTCACTCTTGCCTAGGCTGGAGTGCAGTGGCGTGATCATAGGTCACTGAAGCTTTGAACTCCTAGGCTCAAGTAGCTAGGAATACAAGTGTGTACCACTACACCTGGCTAATTTTTTTAAAAAAATTTTTTTCGTAGAAACGGGAGTCTTGTGTTACCAAGGCTAATCTCAAACTCATGGCCTCAAGTGATACTCTTGCCTCAGCCTCCCAGAGTGCTAGGATTGTAGGCATGAGTTACTTCACCCAGCCAAAAAACTTCAATTTCCTATTGTTTATTTGCTAGTATATAGAAATACATATAGTTTTGTACCTTGATGCTGTATCTTGCAACCTTGTTAAACTCACTTACTAGTTCTAGTATATTTTTTGTAGATTCTATCAGATTTTCTATATATGTATCATGTCTTCTGAGAATAAAGAAACTTTTACTTCTTGCTGTGCAAACTGAACACCTTTTCTTTCTTTCTTTCTTTTTTTAAGACGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCGGCTTACTGCAACCTCCACCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTGGCCGAGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCTTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAATTACTGCGCCCGGCTGCCTTTTATTTCTTTCTCTTGACTGACTGCACTGGCTAGAGCCTCCAATACAATGTTGAATAGAAGTGGTAAGAATGGGCCAGGCATGGTGGCTCATGCCTCTAATCCTAGCACTTTGGGAGAGTATGGTGGGCAGGTTACTTGAGGCCAGGAGTTTGAGATCAGCCTGGCGAACATGGTGAAACTCTGTCTCTATTAAAAATACAAAATATAGTTGGGTGTGGCAGTTCACGTCTGTAATCCCAGCTACTTGGGTGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAATGCACCACTGCACTCCAGCCTGGGCAACACACACACACACGAAAAACGAAGTGGTAAGGATGGAAATCCTTCTCTTCTTCCTGATCTAAGGGGGAAAGGGGAAAGTTACAAAACATTCAGTATGCTGTTAGCCATATAGGTTTTTTTGTAGATGCCCATTATGAGGTTGAGGAAGTTCCCTCTGTTCCTTATTTGCTACAGATTTTATTTAGGATTGGATGTTGAATTTTTTTCAAATGCTTTTTTTGCATCTACTGAGATAATCATATGATTTTTCTTTTATAGTTTGTTAATATAGTGAATTACATTGATTTTCTTATGTTAAACCAATCTTTGCATTCCTGGGATGAACTCTGCTTGGTTATAATATATAATCCTTTTTATTTATTATGGGATTTGATTTGCTAAAATTTTTATTATAATTATTTTATCTGTGCTCATGATTGTTACTAGTTTATAGTTTTCTTTTAGTCTTTGGTTTTTGTATCAGGGTAATGCTGGCCTCATAGAATGAGTTGGTAAGTATCCCCTCCTTTTCCATTTTCTGAAAGAGTTTTGTGTAGAATTGATGTTAAAATTATTGCTTAATGTTTGGCAGAACTCAACAGTGAAGCCATCTGGGCTTGGAGATTTTCTTCATGGGAAGGTTTTTAACTGCAAATTCTATTTCTTTAATAGTATAGAGCTATTCAGGTTATCTGTTTCTTCTTAGGTAAGCTTTGGTATTTTGTTTCTTTGAAGAAATTTGTCGCATTTAATCTAAATTTTTAAATTTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGGCTGGCCTGTTTCACATTTCTTAAGGTAGAAGCTGAGGTCACGGATTTGAGACCTTTCTTCTTTTCTAATACAGGTGTTAAGTGCTACAAATATCCCTTAAGCACTGCTTCAACAGCATCCCACAAATTTTGATAGTTTGTTTTCATTTTCATTCAGTTCAAAATACCTTCTAATTTCCCTTTTGATTTCGTCTTTGACCTACAGGTTTTTTAGAACTGTGTTATTTAGTTTCCAATCTCTTGAGGATTTTTAAAACAATATGTTATTGATTTCTAATTTATTTCCATCTCAGTCAAAGAACATACTTGCCTTTTTTTATACATTTATTGAAACTTTTTTTATGGCCCAGAATATGGTCTGTGTTGGTAAATGTTCCATGTGTACTTGAAAATAATTTGTATTCTGATCTCATTGAGTTGAATGTTCTAGGTATATCAAGTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCAGGCTTTTTGTCTGTCGTATCTTCTCTGTTGAAATGGCCATTGACAAGAGGAGGAAAGGGGTTTTGTTGTGGATTGTTCAGGCACTTCCTTTGGGGTATATGGGGGATGAGTGTTACATTTATGGTTTCTCACCTGCCATTCTGATAGTGGATTCTTGGGAATTCAGGCTTCATTTGGATGCTCCGTTAAAGCTTGCTCCTTCATGTTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAGATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAGGTGTGACAGCCATTCTTATACTTCTGTTGTATTCTTCAAATAAAATTTCCAGCCGGGTGCGGTGGCTCATG T . . ALLELEID=95325;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37042601_37047756del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+270_1896+73del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 3 37043097 89856 TACTCTACAAAAAGCCTGCTGAGATTTTGATTGGGATTATGTTGAATCTAGATCAATTTAGGGTGAAAAACTTTTGTTAGATAAATCCCTTAGTATTTCACATTTTTAAATGCTAAATGGCATTTTTCAAAAATTTTCTTTTTTCTTTTCTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCAAAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCAAACTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTTTAAACTATTTATAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCTCAAATTTTTTTTTTTTTTTTTTTTAAGAGACAGGGGTCTCACTCTTGCCTAGGCTGGAGTGCAGTGGCGTGATCATAGGTCACTGAAGCTTTGAACTCCTAGGCTCAAGTAGCTAGGAATACAAGTGTGTACCACTACACCTGGCTAATTTTTTTAAAAAAATTTTTTTCGTAGAAACGGGAGTCTTGTGTTACCAAGGCTAATCTCAAACTCATGGCCTCAAGTGATACTCTTGCCTCAGCCTCCCAGAGTGCTAGGATTGTAGGCATGAGTTACTTCACCCAGCCAAAAAACTTCAATTTCCTATTGTTTATTTGCTAGTATATAGAAATACATATAGTTTTGTACCTTGATGCTGTATCTTGCAACCTTGTTAAACTCACTTACTAGTTCTAGTATATTTTTTGTAGATTCTATCAGATTTTCTATATATGTATCATGTCTTCTGAGAATAAAGAAACTTTTACTTCTTGCTGTGCAAACTGAACACCTTTTCTTTCTTTCTTTCTTTTTTTAAGACGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCGGCTTACTGCAACCTCCACCTCCTGGGTTCAGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTGGCCGAGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCTTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAATTACTGCGCCCGGCTGCCTTTTATTTCTTTCTCTTGACTGACTGCACTGGCTAGAGCCTCCAATACAATGTTGAATAGAAGTGGTAAGAATGGGCCAGGCATGGTGGCTCATGCCTCTAATCCTAGCACTTTGGGAGAGTATGGTGGGCAGGTTACTTGAGGCCAGGAGTTTGAGATCAGCCTGGCGAACATGGTGAAACTCTGTCTCTATTAAAAATACAAAATATAGTTGGGTGTGGCAGTTCACGTCTGTAATCCCAGCTACTTGGGTGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGAATGCACCACTGCACTCCAGCCTGGGCAACACACACACACACGAAAAACGAAGTGGTAAGGATGGAAATCCTTCTCTTCTTCCTGATCTAAGGGGGAAAGGGGAAAGTTACAAAACATTCAGTATGCTGTTAGCCATATAGGTTTTTTTGTAGATGCCCATTATGAGGTTGAGGAAGTTCCCTCTGTTCCTTATTTGCTACAGATTTTATTTAGGATTGGATGTTGAATTTTTTTCAAATGCTTTTTTTGCATCTACTGAGATAATCATATGATTTTTCTTTTATAGTTTGTTAATATAGTGAATTACATTGATTTTCTTATGTTAAACCAATCTTTGCATTCCTGGGATGAACTCTGCTTGGTTATAATATATAATCCTTTTTATTTATTATGGGATTTGATTTGCTAAAATTTTTATTATAATTATTTTATCTGTGCTCATGATTGTTACTAGTTTATAGTTTTCTTTTAGTCTTTGGTTTTTGTATCAGGGTAATGCTGGCCTCATAGAATGAGTTGGTAAGTATCCCCTCCTTTTCCATTTTCTGAAAGAGTTTTGTGTAGAATTGATGTTAAAATTATTGCTTAATGTTTGGCAGAACTCAACAGTGAAGCCATCTGGGCTTGGAGATTTTCTTCATGGGAAGGTTTTTAACTGCAAATTCTATTTCTTTAATAGTATAGAGCTATTCAGGTTATCTGTTTCTTCTTAGGTAAGCTTTGGTATTTTGTTTCTTTGAAGAAATTTGTCGCATTTAATCTAAATTTTTAAATTTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGGCTGGCCTGTTTCACATTTCTTAAGGTAGAAGCTGAGGTCACGGATTTGAGACCTTTCTTCTTTTCTAATACAGGTGTTAAGTGCTACAAATATCCCTTAAGCACTGCTTCAACAGCATCCCACAAATTTTGATAGTTTGTTTTCATTTTCATTCAGTTCAAAATACCTTCTAATTTCCCTTTTGATTTCGTCTTTGACCTACAGGTTTTTTAGAACTGTGTTATTTAGTTTCCAATCTCTTGAGGATTTTTAAAACAATATGTTATTGATTTCTAATTTATTTCCATCTCAGTCAAAGAACATACTTGCCTTTTTTTATACATTTATTGAAACTTTTTTTATGGCCCAGAATATGGTCTGTGTTGGTAAATGTTCCATGTGTACTTGAAAATAATTTGTATTCTGATCTCATTGAGTTGAATGTTCTAGGTATATCAAGTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCAGGCTTTTTGTCTGTCGTATCTTCTCTGTTGAAATGGCCATTGACAAGAGGAGGAAAGGGGTTTTGTTGTGGATTGTTCAGGCACTTCCTTTGGGGTATATGGGGGATGAGTGTTACATTTATGGTTTCTCACCTGCCATTCTGATAGTGGATTCTTGGGAATTCAGGCTTCATTTGGATGCTCCGTTAAAGCTTGCTCCTTCATGTTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAGATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAGGTGTGACAGCCATTCTTATACTTCTGTTGTATTCTTCAAATAAAATTTCCAGCCGGGTGCGGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATAACTTGGGGTCAGGAGTTCAAAACCAGCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAATAGAAAAATTAGCCAGGCGTGGTGGCGGGTACCTGTAATCCAAGCTGCTCAGGAGGCTGAGGCAGAAGAATCACTTAAACCCAAGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTAGGCGACAGCGAGACTGCGTCTCAAAAAAAAAAAAAAAGAACGTTCCAAGGTCAGGACTAGGCCTCCCCTCAGAAGCAGCAAGTGACATATGTGACATCCTCTCCACTCCCTATTTGCATTTCTAGGTTATATAACTGTACTACTATCCATGCATGCCTACTCTTGTTCCCAGGGTGAAGGACCCAGACATGGAGAGCCGAATCCCTGCAGGCCATTATAAATGAGATTATGCCATTTGCTCCCATTTCTTCTTATTCTTTCATTTTTGGGGCTCTCCATCTTGATGTGTTCTTTGGATCGTG T . . ALLELEID=95330;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37043099_37048295del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1731+768_1897-222del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 3 37045275 89860 GGCTTGGAGATTTTCTTCATGGGAAGGTTTTTAACTGCAAATTCTATTTCTTTAATAGTATAGAGCTATTCAGGTTATCTGTTTCTTCTTAGGTAAGCTTTGGTATTTTGTTTCTTTGAAGAAATTTGTCGCATTTAATCTAAATTTTTAAATTTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGGCTGGCCTGTTTCACATTTCTTAAGGTAGAAGCTGAGGTCACGGATTTGAGACCTTTCTTCTTTTCTAATACAGGTGTTAAGTGCTACAAATATCCCTTAAGCACTGCTTCAACAGCATCCCACAAATTTTGATAGTTTGTTTTCATTTTCATTCAGTTCAAAATACCTTCTAATTTCCCTTTTGATTTCGTCTTTGACCTACAGGTTTTTTAGAACTGTGTTATTTAGTTTCCAATCTCTTGAGGATTTTTAAAACAATATGTTATTGATTTCTAATTTATTTCCATCTCAGTCAAAGAACATACTTGCCTTTTTTTATACATTTATTGAAACTTTTTTTATGGCCCAGAATATGGTCTGTGTTGGTAAATGTTCCATGTGTACTTGAAAATAATTTGTATTCTGATCTCATTGAGTTGAATGTTCTAGGTATATCAAGTTGATAGTGATGCCCAAGTCTCCTGTATCTTTACTGATTTTCTGCCTGTTCTGTTATTGAGAAAGGGGTATTGAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCATATATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCCTTTCAGCAGGCTTTTTGTCTGTCGTATCTTCTCTGTTGAAATGGCCATTGACAAGAGGAGGAAAGGGGTTTTGTTGTGGATTGTTCAGGCACTTCCTTTGGGGTATATGGGGGATGAGTGTTACATTTATGGTTTCTCACCTGCCATTCTGATAGTGGATTCTTGGGAATTCAGGCTTCATTTGGATGCTCCGTTAAAGCTTGCTCCTTCATGTTCTTGCTTCTTCCTAGGAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAGATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAGGTGTGACAGCCATTCTTATACTTCTGTTGTATTCTTCAAATAAAATTTCCAGCCGGGTGCGGTGGCTCATGGCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATAACTTGGGGTCAGGAGTTCAAAACCAGCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAATAGAAAAATTAGCCAGGCGTGGTGGCGGGTACCTGTAATCCAAGCTGCTCAGGAGGCTGAGGCAGAAGAATCACTTAAACCCAAGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACCACTGCACTCTAGCCTAGGCGACAGCGAGACTGCGTCTCAAAAAAAAAAAAAAAGAACGTTCCAAGGTCAGGACTAGGCCTCCCCTCAGAAGCAGCAAGTGACATATGTGAC G . . ALLELEID=95334;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37045276_37048087del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1732-2243_1896+404del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 3 37047510 89864 T C . . ALLELEID=95338;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047510T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1732-9T>C;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267607857 3 37047517 89861 A G . . ALLELEID=95335;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37047517A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1732-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607852 3 37047517 89862 A T . . ALLELEID=95336;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047517A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1732-2A>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607852 3 37047518 89859 G A . . ALLELEID=95333;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Carcinoma_of_colon|Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047518G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1732-1G>A;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607854 3 37047520 17090 A G . . AF_EXAC=0.00012;ALLELEID=32129;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37047520A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1733A>G|OMIM_Allelic_Variant:120436.0013|UniProtKB_(protein):P40692#VAR_004459|Illumina_Laboratory_Services,Illumina:681926;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751612 3 37047529 41635 C T . . AF_EXAC=0.00015;AF_TGP=0.00120;ALLELEID=50074;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37047529C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1742C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854411;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751684 3 37047531 89872 CT C . . ALLELEID=95346;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37047532del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1745del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778942 3 37047532 89871 T C . . ALLELEID=95345;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047532T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1745T>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751616 3 37047533 89874 CT C . . ALLELEID=95348;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047536del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1749del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750309 3 37047533 89873 CTT C . . ALLELEID=95347;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047535_37047536del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1748_1749del;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750309 3 37047543 89879 G GC . . ALLELEID=95353;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37047545dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1758dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749863 3 37047543 89878 GC G . . ALLELEID=95352;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047545del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1758del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749863 3 37047549 89883 CT C . . ALLELEID=95357;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310;CLNDN=Lynch_syndrome|Lynch_syndrome_II;CLNHGVS=NC_000003.12:g.37047551del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:120436.0009|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1764del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751486 3 37047553 89884 C A . . ALLELEID=95358;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047553C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043419|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1766C>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750016 3 37047554 89885 CT C . . ALLELEID=95359;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047556del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1769del;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63749979 3 37047555 89886 TTAGA T . . ALLELEID=95360;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37047559_37047562del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1772_1775del|Invitae:3602799;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=3;RS=63749868 3 37047564 89887 CCA C . . ALLELEID=95361;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37047565_37047566del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1778_1779del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750375 3 37047565 89888 CAG C . . ALLELEID=95362;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch-like_syndrome|Lynch_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37047566AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1370791|OMIM_Allelic_Variant:120436.0027|MLH1_homepage_-_Colon_cancer_gene_variant_databases:MLH1_001602|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1783_1784del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=3;RS=63750035 3 37047577 89889 G A . . ALLELEID=95363;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37047577G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1790G>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750604 3 37047582 89891 GAGGAAGATGGTCCCAAAGA G . . ALLELEID=95365;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047587_37047605del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1800_1818del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778946 3 37047586 89890 A G . . AF_EXAC=0.00002;ALLELEID=95364;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047586A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1799A>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607861 3 37047595 41636 C G . . AF_ESP=0.00008;ALLELEID=50075;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37047595C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:829437|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1808C>G|UniProtKB_(protein):P40692#VAR_012925|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829852;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750876 3 37047596 89894 C CA . . ALLELEID=95368;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047599dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1812dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751240 3 37047597 89893 A T . . ALLELEID=95367;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37047597A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854062|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1810A>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750386 3 37047606 89896 C CT . . ALLELEID=95370;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047608dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1821dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778947 3 37047607 89895 T A . . AF_ESP=0.00046;AF_EXAC=0.00020;AF_TGP=0.00020;ALLELEID=95369;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37047607T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_012926|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1820T>A|Illumina_Laboratory_Services,Illumina:703276;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41295284 3 37047610 89897 C A . . ALLELEID=95371;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37047610C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1823C>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607864 3 37047613 89898 A AATAC . . ALLELEID=95372;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047616_37047619dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1829_1832dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778948 3 37047617 89899 CAT C . . ALLELEID=95373;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37047618_37047619del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1831_1832del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750150 3 37047618 89900 ATTG A . . ALLELEID=95374;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37047619TTG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1835_1837del|Invitae:794531;GENEINFO=MLH1:4292;MC=SO:0001822|inframe_deletion,SO:0001627|intron_variant;ORIGIN=1;RS=63750486 3 37047631 17080 TGAA T . . ALLELEID=32119;CLNDISDB=.|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch-like_syndrome|Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37047633AAG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=OMIM_Allelic_Variant:120436.0003|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148414|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1852_1854del|Invitae:70319|OMIM_Allelic_Variant:120436.0018|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1786788;GENEINFO=MLH1:4292;MC=SO:0001822|inframe_deletion,SO:0001627|intron_variant;ORIGIN=3;RS=63751247 3 37047639 89904 A T . . ALLELEID=95378;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047639A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1852A>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=35001569 3 37047639 17089 AA GC . . ALLELEID=32128;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000003.12:g.37047639_37047640delinsGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_740|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A12|OMIM_Allelic_Variant:120436.0012|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1852_1853delinsGC;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=35502531 3 37047640 89906 A C . . AF_ESP=0.00377;AF_TGP=0.00319;ALLELEID=95380;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221576|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000003.12:g.37047640A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1853A>C|Mayo_Clinic_Laboratories,Mayo_Clinic:174|UniProtKB_(protein):P40692#VAR_004463|Illumina_Laboratory_Services,Illumina:106674;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750449 3 37047640 89907 A G . . ALLELEID=95381;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37047640A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043424|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1853A>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750449 3 37047640 89908 A TTCTT . . ALLELEID=95382;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047640delinsTTCTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1853delinsTTCTT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778949 3 37047640 89910 AG A . . ALLELEID=95384;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37047642del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4529356|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1855del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749986 3 37047642 89909 G C . . ALLELEID=95383;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37047642G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1855G>C|UniProtKB_(protein):P40692#VAR_054535;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607866 3 37047651 89912 CT C . . ALLELEID=95386;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37047653del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1866del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778950 3 37047652 29657 T A . . ALLELEID=38612;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II;CLNHGVS=NC_000003.12:g.37047652T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1865T>A|UniProtKB_(protein):P40692#VAR_012927|OMIM_Allelic_Variant:120436.0033;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750693 3 37047652 89911 T C . . ALLELEID=95385;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37047652T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1865T>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750693 3 37047661 89917 AT A . . ALLELEID=95391;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37047664del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1877del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750152 3 37047661 89916 ATTTCTCT A . . ALLELEID=95390;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047664_37047670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1877_1883del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751594 3 37047662 89914 T G . . ALLELEID=95388;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047662T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1875T>G;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63751415 3 37047665 89921 CTCTT C . . ALLELEID=95395;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047667_37047670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1880_1883del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778953 3 37047670 89922 TGGAAA T . . ALLELEID=95396;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37047671_37047675del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1884_1888del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751639 3 37047679 89924 AT A . . ALLELEID=95398;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047680del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1893del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778954 3 37047682 89927 AG A . . ALLELEID=95401;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047684del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1896+1del;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607868 3 37047683 89930 G A . . ALLELEID=95404;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37047683G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2705126|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1896G>A;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751632 3 37047684 89925 G A . . ALLELEID=95399;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37047684G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1896+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607867 3 37047684 89926 G T . . ALLELEID=95400;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37047684G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1896+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607867 3 37047685 89928 T C . . ALLELEID=95402;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37047685T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1896+2T>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607869 3 37048515 89932 A G . . ALLELEID=95406;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048515A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1897-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607871 3 37048519 89936 AG A . . ALLELEID=95410;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37048522del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1902del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778956 3 37048522 89938 G GA . . ALLELEID=95412;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048524dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1904dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778957 3 37048530 89942 T TTGGATTACCCCTTC . . ALLELEID=95416;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37048533_37048546dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1913_1926dup;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=587778958 3 37048533 89943 G GATTACCCCTTCTGATTGACAACTATGTGC . . ALLELEID=95417;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048534_37048562dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1914_1942dup;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=587778959 3 37048534 89944 A AT . . ALLELEID=95418;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048536dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1916dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778960 3 37048538 89945 C T . . ALLELEID=95419;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048538C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043429|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1918C>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749792 3 37048540 89949 C CT . . ALLELEID=95423;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048540_37048541insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1920_1921insT;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778961 3 37048549 89950 TG T . . ALLELEID=95424;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048550del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1930del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778962 3 37048561 89954 GC G . . ALLELEID=95428;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048566del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1946del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=281864938 3 37048562 17097 C T . . ALLELEID=32136;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048562C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_022669|OMIM_Allelic_Variant:120436.0020|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1942C>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750899 3 37048563 89953 C T . . ALLELEID=95427;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048563C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_012928|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1943C>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750610 3 37048569 89956 TGGAG T . . ALLELEID=95430;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048573_37048576del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1953_1956del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751301 3 37048578 89957 T G . . ALLELEID=95431;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048578T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1958T>G;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751202 3 37048579 36546 G T . . AF_ESP=0.01246;AF_EXAC=0.00827;AF_TGP=0.00220;ALLELEID=45208;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided;CLNHGVS=NC_000003.12:g.37048579G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1785530|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1959G>T|HGMD:CS011052|Illumina_Laboratory_Services,Illumina:131330|Mayo_Clinic_Laboratories,Mayo_Clinic:178|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3316;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800146 3 37048581 89959 C T . . ALLELEID=95433;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Breast_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048581C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043431|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1961C>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750726 3 37048583 41637 A G . . AF_ESP=0.00323;AF_TGP=0.00260;ALLELEID=50076;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37048583A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_043432|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3317|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2400623|Illumina_Laboratory_Services,Illumina:790788|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A13|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1963A>G|Mayo_Clinic_Laboratories,Mayo_Clinic:179;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55907433 3 37048589 89961 AT A . . ALLELEID=95435;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048591del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1971del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750115 3 37048594 89963 TCG T . . ALLELEID=95437;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048595_37048596del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1975_1976del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750131 3 37048595 89962 C T . . ALLELEID=95436;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048595C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:180|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2590760|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1975C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63751310 3 37048595 89967 CGA C . . ALLELEID=95441;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048596_37048597del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1976_1977del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751200 3 37048596 89965 G C . . ALLELEID=95439;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MedGen:C0009405;CLNDN=Lynch_syndrome|Muir-Torré_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048596G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_004465|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1976G>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749900 3 37048596 89966 G T . . ALLELEID=95440;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37048596G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_012929|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1976G>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63749900 3 37048604 89968 A C . . ALLELEID=95442;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000003.12:g.37048604A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1984A>C|UniProtKB_(protein):P40692#VAR_012930;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778964 3 37048606 89969 TGAGG C . . ALLELEID=95443;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048606_37048610delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1986_1989+1delinsC;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607873 3 37048607 89972 GA G . . ALLELEID=95446;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048608del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1988del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607877 3 37048608 89970 A C . . ALLELEID=95444;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37048608A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1988A>C_1;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751682 3 37048609 89979 G A . . ALLELEID=95453;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048609G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1989G>A;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751662 3 37048609 89980 G T . . ALLELEID=95454;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048609G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1989G>T;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751662 3 37048610 89973 G A . . ALLELEID=95447;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048610G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1989+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607879 3 37048610 89974 G C . . ALLELEID=95448;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048610G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1989+1G>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607879 3 37048610 89975 G T . . ALLELEID=95449;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048610G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1989+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607879 3 37048783 89983 C T . . AF_TGP=0.30391;ALLELEID=95457;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37048783C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1990-121C>T|Mayo_Clinic_Laboratories,Mayo_Clinic:182;GENEINFO=MLH1:4292;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2241031 3 37048887 89984 GAATTTCTTTGGACCA G . . ALLELEID=95458;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048888_37048902del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1990-16_1990-2del;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607881 3 37048902 89987 A G . . ALLELEID=95461;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048902A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1990-2A>G|Mayo_Clinic_Laboratories,Mayo_Clinic:183;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607883 3 37048903 89985 G A . . ALLELEID=95459;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37048903G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1990-1G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855040;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607884 3 37048903 89986 G T . . ALLELEID=95460;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch-like_syndrome|Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048903G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1990-1G>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=3;RS=267607884 3 37048912 89991 G A . . ALLELEID=95465;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37048912G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1998G>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750639 3 37048913 89995 G GA . . ALLELEID=95469;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048914dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2000dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750282 3 37048916 89997 GAAGAA G . . ALLELEID=95471;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37048920_37048924del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006_2010del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750061 3 37048919 89998 GA G . . ALLELEID=95472;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048923del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2009del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750740 3 37048925 89999 G T . . ALLELEID=95473;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch-like_syndrome|Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048925G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2011G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=3;RS=63750663 3 37048949 90005 G T . . ALLELEID=95479;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048949G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2035G>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=587778971 3 37048952 90006 T C . . ALLELEID=95480;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048952T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2038T>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750809 3 37048954 90009 C A . . ALLELEID=95483;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048954C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2040C>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63749867 3 37048955 17099 G A . . ALLELEID=32138;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37048955G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2041G>A|OMIM_Allelic_Variant:120436.0022|Mayo_Clinic_Laboratories,Mayo_Clinic:185|UniProtKB_(protein):P40692#VAR_004466;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750217 3 37048962 90012 T C . . ALLELEID=95486;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37048962T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2048T>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778972 3 37048973 90014 C T . . AF_EXAC=0.00002;ALLELEID=95488;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Muir-Torré_syndrome|Turcot_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048973C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2059C>T|UniProtKB_(protein):P40692#VAR_012931|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831857;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751275 3 37048979 90017 CAGTACAT C . . ALLELEID=95491;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048981_37048987del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2067_2073del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750420 3 37048980 90016 A G . . AF_ESP=0.00023;AF_EXAC=0.00028;ALLELEID=95490;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221576|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000003.12:g.37048980A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2066A>G|Illumina_Laboratory_Services,Illumina:628381|UniProtKB_(protein):P40692#VAR_012932|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A14;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750702 3 37048988 127621 T C . . AF_EXAC=0.00001;ALLELEID=133078;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37048988T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779957 3 37048989 90025 CTG C . . ALLELEID=95499;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048990_37048991del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2076_2077del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750769 3 37048989 90026 CTGAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGGACTAGGACAGGACCTCATACAATCTTTAGGAGATGAAACTTGCCCATCTCTAAAATTTCGGGATTTCTTTGTACCCAACAAGGTTCAAACACAACAGTCAGCTTTTATTCATGATTTTTACTTCCATCTGCTGATGTAGAACATACCTCCAGAGTGACCTCAGAAATTGTCAAATGTGAAAACACAAGCCATCACAGTGAGAAATGGGAGGTTGAGTTAGATTGTCTAAGGCTGGAGAGTCCATATACTCCCACTGTTAGCTCTGAAGTGTGTAGCCAGTCTTCAGATTCTGGGTCAGTTGCCTCAGTCTCTCTTAGCTTTTGCCTTACTCTTTATCCGACCACTGCCCTGCCAGGAAAACAAGGCTCTATAACTCCTCTTACAGGTCAGCTTGACACAAAAAGGGTGCCTGGATTCCTAATGTTTCATTGTCACTTTTCCCAGTCAGATGATAATGCTTTTCAAATCAACATATATTTTGGGGGAGGTTGGAAGGGAGAGTTGAAATATTCTAAGAATCAAAGAGTAGCCCACTTTAATCAGAGTATGACCCCTGATTGCTCACAGTCATCTCCTGAGCAGTGTGAGCGAGTTTCAGATGAGGAGGCTGAAGGCCAGTCAGGCATGCTCGAGGATTCCAAGTCTGTAGGTGGGAGGGCAGAGATTTAGTCCTGTTGGCCAAAGCCTCTAGGGAATTTCTCACTCCAGTGGAGAAGGCAACACACTTACCAAACTGTGTGGAAACTATCTCATTTGATTAGAAATTTTACCTCAAGAAGAGGAAGGACAGTTGAGAAAGAACATTTTCTTACACATGAGACAGCTAAGGCTTACAAGAAGGAGAGGAATAATGAGGCAAAATAATCCTCATTAATATTTTCATTCCTCCCCTGGGGATTAGAACTACTTTCAGACCCGATTTTAATGGTAAGTTAGGTACTTCCTACAGTTGCCATCCAAATATCAGTCAGGATCAGACATGATGTTAGCTCCTGCTACAATAAAACCATTTTCTCCCTGAATGAAAACAAAGGTTCCACAGGAGACAGTCCCACAGAGCAGTGGCTTCTTTTCCTCCCTTTAAAACCTCATGTTGGCTGGACACAGTGGCTCACACCTGTAATCCCAGCATTTTAGGAGGCTGAGGTGGGAAGATGGCTTAAGCCCAGGAGTTTGAGGCTGTAGAGCTATGATCACACCACTGCCCTTCAGCCTGGGTGACAGAGCAAGACCTTGTCTCTAAATAAACAAACAAACAAAAAATCCTCTTGTGTTCAGGCCTGTGGGATCCCCTGAGAGGCTAGCCCACAAGATCCACTTCAAAAGCCCTAGATAACACCAAGTCTTTCCAGACCCAGTGCACATCCCATCAGCCAGGACACCAGTGTATGTTGGGATGCAAACAGGGAGGCTTATGACATCTAATGTGTTTTCCAGAGTGAAGTGCCTGGCTCCATTCCAAACTCCTGGAAGTGGACTGTGGAACACATTGTCTATAAAGCCT C . . ALLELEID=95500;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37048992_37050554del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2078_2172del|MLH1_homepage_-_Colon_cancer_gene_variant_databases:MLH1_001258;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001589|frameshift_variant;ORIGIN=1 3 37048998 90038 C A . . ALLELEID=95512;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37048998C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2084C>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63749995 3 37049002 90039 CCT C . . ALLELEID=95513;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37049004TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4842358|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2092_2093del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750859 3 37049007 90040 C G . . ALLELEID=95514;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37049007C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2093C>G;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=587778975 3 37049012 90041 CAGCA C . . ALLELEID=95515;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37049013_37049016del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2099_2102del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751652 3 37049015 90042 C A . . AF_EXAC=0.00046;AF_TGP=0.00120;ALLELEID=95516;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000003.12:g.37049015C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840959|Illumina_Laboratory_Services,Illumina:784708|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2101C>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750114 3 37049015 90043 C T . . ALLELEID=95517;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37049015C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2101C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=63750114 3 37049017 90048 G A . . ALLELEID=95522;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MedGen:C0009405;CLNDN=Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37049017G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2103G>A;GENEINFO=MLH1:4292;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750603 3 37049017 90049 G C . . ALLELEID=95523;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37049017G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2103G>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750603 3 37049018 90044 G A . . ALLELEID=95518;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37049018G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:188|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2103+1G>A;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607888 3 37049018 90045 G C . . ALLELEID=95519;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37049018G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2103+1G>C;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607888 3 37049018 90046 G T . . ALLELEID=95520;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37049018G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2103+1G>T;GENEINFO=MLH1:4292;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267607888 3 37050483 90059 CAG C . . ALLELEID=95533;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050484AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2104_2105del;GENEINFO=MLH1:4292;ORIGIN=3;RS=63751651 3 37050484 90054 A G . . ALLELEID=95528;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37050484A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2104-2A>G;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607889 3 37050484 90055 A T . . ALLELEID=95529;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050484A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2104-2A>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267607889 3 37050485 90052 G T . . ALLELEID=95526;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050485G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2104-1G>T;GENEINFO=MLH1:4292;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587778978 3 37050486 90060 AGTGAAGTGCC A . . ALLELEID=95534;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050487_37050496del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2105_2114del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778979 3 37050491 90062 AGTGCCTG A . . ALLELEID=95536;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050493_37050499del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2111_2117del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778980 3 37050517 90065 G A . . ALLELEID=95539;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37050517G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2135G>A|Mayo_Clinic_Laboratories,Mayo_Clinic:190;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750561 3 37050518 90066 G A . . ALLELEID=95540;CLNDISDB=.|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch-like_syndrome|Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050518G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2136G>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=3;RS=63750499 3 37050523 90068 G A . . ALLELEID=95542;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37050523G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2141G>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63751022 3 37050526 90069 CTG C . . ALLELEID=95543;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050527TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2147_2148del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778981 3 37050528 41639 G A . . AF_ESP=0.00138;AF_TGP=0.00040;ALLELEID=50078;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:ORPHA587,SNOMED_CT:403824007|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Muir-Torré_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000003.12:g.37050528G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3321|HGMD:CM981295|Illumina_Laboratory_Services,Illumina:31947|UniProtKB_(protein):P40692#VAR_012933|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2146G>A;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35831931 3 37050530 90070 G GGAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA . . ALLELEID=95544;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050531_37050577dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2149_2195dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778982 3 37050532 90073 A AAC . . ALLELEID=95547;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37050534CA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2154_2155dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750971 3 37050532 90072 AAC A . . ALLELEID=95546;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050534CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2154_2155del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63750971 3 37050534 36547 C T . . AF_ESP=0.02384;AF_EXAC=0.00699;AF_TGP=0.02915;ALLELEID=45209;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37050534C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:191|HGMD:CM014821|Illumina_Laboratory_Services,Illumina:545094|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2152C>T_1|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MLH1-A16|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3322|UniProtKB_(protein):P40692#VAR_004467;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2020873 3 37050535 90071 A C . . ALLELEID=95545;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37050535A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2153A>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587778983 3 37050537 90075 A AT . . ALLELEID=95549;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050539dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2157dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778984 3 37050545 90079 T A . . ALLELEID=95553;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050545T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2163T>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=63750484 3 37050558 90084 TCA T . . ALLELEID=95558;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37050559CA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2181_2182del|Invitae:4842393;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607898 3 37050558 90083 TCACA T . . ALLELEID=95557;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37050559CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2179_2182del|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844764|Invitae:443243;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607898 3 37050575 90088 T TAAAC . . ALLELEID=95562;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37050577_37050580dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4753818|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2195_2198dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607903 3 37050576 90087 A T . . ALLELEID=95561;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37050576A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2194A>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=267607906 3 37050579 479712 C T . . ALLELEID=473489;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Lynch_syndrome_I|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000003.12:g.37050579C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1553665846 3 37050599 90091 T TA . . ALLELEID=95565;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37050600dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2218dup;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587778989 3 37050604 90093 TGCAGCTTGCTA T . . ALLELEID=95567;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050605_37050615del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2223_2233del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607897 3 37050605 90096 GC G . . ALLELEID=95570;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050606del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2224del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607896 3 37050606 90094 C T . . ALLELEID=95568;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37050606C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2224C>T;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=587778992 3 37050628 90097 T C . . ALLELEID=95571;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37050628T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829248|UniProtKB_(protein):P40692#VAR_043437|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2246T>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607894 3 37050632 90098 C A . . ALLELEID=95572;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050632C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2250C>A;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=267607893 3 37050632 90102 C CAA . . ALLELEID=95576;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000003.12:g.37050634_37050635dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2252_2253dup|Invitae:333159;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607901 3 37050632 90099 C G . . ALLELEID=95573;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000003.12:g.37050632C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2250C>G;GENEINFO=MLH1:4292;MC=SO:0001587|nonsense;ORIGIN=1;RS=267607893 3 37050632 90101 CAA C . . ALLELEID=95575;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome_I|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000003.12:g.37050634_37050635del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2252_2253del|Invitae:1381195;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607901 3 37050634 90100 A G . . AF_ESP=0.00015;AF_EXAC=0.00007;ALLELEID=95574;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN221576|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Lynch_syndrome_II|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000003.12:g.37050634A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P40692#VAR_012934|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2252A>G|Illumina_Laboratory_Services,Illumina:654860|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842441;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140195825 3 37050643 90104 AG A . . ALLELEID=95578;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310;CLNDN=Lynch_syndrome|Lynch_syndrome_II;CLNHGVS=NC_000003.12:g.37050644del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2262del;GENEINFO=MLH1:4292;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=267607904 3 37050645 219292 A G . . ALLELEID=220983;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37050645A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607900 3 37050647 90106 G C . . ALLELEID=95580;CLNDISDB=MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37050647G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2265G>C;GENEINFO=MLH1:4292;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607895 3 37050647 90107 G GTGTT . . ALLELEID=95581;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|none_provided|not_provided;CLNHGVS=NC_000003.12:g.37050648_37050651dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2266_2269dup;GENEINFO=MLH1:4292;MC=SO:0001578|stop_lost,SO:0001589|frameshift_variant;ORIGIN=1;RS=267607892 3 37050649 90109 G GT . . ALLELEID=95583;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000003.12:g.37050651dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2269dup;GENEINFO=MLH1:4292;MC=SO:0001578|stop_lost,SO:0001589|frameshift_variant;ORIGIN=1;RS=1553666143 3 37050651 90108 T A . . ALLELEID=95582;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37050651T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2269T>A;GENEINFO=MLH1:4292;MC=SO:0001578|stop_lost;ORIGIN=1;RS=587778995 3 37050682 36549 GTTC G . . ALLELEID=45211;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000003.12:g.37050685CTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Illumina_Laboratory_Services,Illumina:498614|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*35_*37del;GENEINFO=MLH1:4292;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=193922366 3 37053579 89585 C T . . AF_TGP=0.39697;ALLELEID=95059;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000003.12:g.37053579C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*2926C>T;GENEINFO=MLH1:4292|LRRFIP2:9209;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=10849 3 179198918 1296992 A G . . ALLELEID=1286782;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000003.12:g.179198918A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CA:5290;MC=SO:0001583|missense_variant;ORIGIN=1 3 179199149 995382 TGAA T . . ALLELEID=983286;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN233161;CLNDN=Brain_malformation|PIK3CA_related_overgrowth_spectrum;CLNHGVS=NC_000003.12:g.179199150GAA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=PIK3CA:5290;MC=SO:0001822|inframe_deletion;ORIGIN=3;RS=1724343994 3 179209622 135038 A G . . AF_ESP=0.10960;AF_EXAC=0.06488;AF_TGP=0.08786;ALLELEID=138777;CLNDISDB=MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:ORPHA201,SNOMED_CT:58037000|MONDO:MONDO:0100283,MedGen:CN300503|MedGen:CN169374|MedGen:CN517202;CLNDN=Cowden_syndrome|Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes|not_specified|not_provided;CLNHGVS=NC_000003.12:g.179209622A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P42336#VAR_026170;GENEINFO=PIK3CA:5290;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2230461 3 179218294 31944 G A . . ALLELEID=40609;CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131,SNOMED_CT:254637007|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0013038,MedGen:C2752042,OMIM:612918,Orphanet:ORPHA140944|MONDO:MONDO:0013125,MedGen:C2751313,OMIM:613089,Orphanet:ORPHA168984|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0023644,MedGen:C0220641|MeSH:C538614,MedGen:C1336078|MedGen:C0153574|MedGen:CN517202;CLNDN=CEREBRAL_CAVERNOUS_MALFORMATIONS_4,_SOMATIC|Cerebrofacial_Vascular_Metameric_Syndrome_(CVMS)|Hepatocellular_carcinoma|Abnormality_of_cardiovascular_system_morphology|Transitional_cell_carcinoma_of_the_bladder|Breast_neoplasm|Carcinoma_of_esophagus|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Non-small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Squamous_cell_carcinoma_of_the_head_and_neck|Congenital_lipomatous_overgrowth,_vascular_malformations,_and_epidermal_nevi|Capillary_malformation_of_the_lower_lip,_lymphatic_malformation_of_face_and_neck,_asymmetry_of_face_and_limbs,_and_partial/generalized_overgrowth|Brain_malformation|Glioblastoma|Lip_and_oral_cavity_carcinoma|Papillary_renal_cell_carcinoma,_sporadic|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000003.12:g.179218294G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:171834.0009|UniProtKB_(protein):P42336#VAR_026173;GENEINFO=PIK3CA:5290;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121913273 3 179218301 1296990 C A . . ALLELEID=1286780;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000003.12:g.179218301C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CA:5290;MC=SO:0001583|missense_variant;ORIGIN=1 3 179220061 412646 A G . . AF_ESP=0.00026;AF_EXAC=0.00011;AF_TGP=0.00060;ALLELEID=393426;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:ORPHA201,SNOMED_CT:58037000|MedGen:CN517202;CLNDN=Brain_malformation|Cowden_syndrome|not_provided;CLNHGVS=NC_000003.12:g.179220061A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CA:5290;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200768351 3 179221010 456534 T C . . AF_EXAC=0.00001;ALLELEID=451958;CLNDISDB=MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:ORPHA201,SNOMED_CT:58037000|MONDO:MONDO:0100283,MedGen:CN300503;CLNDN=Cowden_syndrome|Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes;CLNHGVS=NC_000003.12:g.179221010T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CA:5290;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201402676 3 179221146 376476 G A . . ALLELEID=363355;CLNDISDB=Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Transitional_cell_carcinoma_of_the_bladder|Breast_neoplasm|Brainstem_glioma|Lung_adenocarcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_uterine_cervix|Neoplasm_of_the_large_intestine|Squamous_cell_carcinoma_of_the_head_and_neck|Brain_malformation|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000003.12:g.179221146G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CA:5290;MC=SO:0001583|missense_variant;ORIGIN=3;RS=867262025 3 179224091 456537 A G . . AF_EXAC=0.00044;AF_TGP=0.00080;ALLELEID=452429;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:ORPHA201,SNOMED_CT:58037000;CLNDN=Brain_malformation|Cowden_syndrome;CLNHGVS=NC_000003.12:g.179224091A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3CA:5290;MC=SO:0001583|missense_variant;ORIGIN=1;RS=181194055 3 179230077 39703 G A . . ALLELEID=48302;CLNDISDB=Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796|MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:ORPHA60040|MONDO:MONDO:0014047,MedGen:C3554518,OMIM:615108|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN517202;CLNDN=Abnormality_of_cardiovascular_system_morphology|Megalencephaly-capillary_malformation-polymicrogyria_syndrome|Cowden_syndrome_5|Brain_malformation|not_provided;CLNHGVS=NC_000003.12:g.179230077G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:171834.0011|UniProtKB_(protein):P42336#VAR_069257;GENEINFO=PIK3CA:5290;MC=SO:0001583|missense_variant;ORIGIN=35;RS=587776932 3 179234297 13652 A G . . ALLELEID=28691;CLNDISDB=.|.|.|.|.|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001632,Human_Phenotype_Ontology:HP:0002564,Human_Phenotype_Ontology:HP:0002565,Human_Phenotype_Ontology:HP:0030680,MedGen:C4049796|Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0002889,Human_Phenotype_Ontology:HP:0006744,Human_Phenotype_Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686|Human_Phenotype_Ontology:HP:0004099,MONDO:MONDO:0007962,MedGen:C0265552,OMIM:155500,SNOMED_CT:48449000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356,SNOMED_CT:126824007|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0025171,MONDO:MONDO:0016736,MedGen:C4331262,Orphanet:ORPHA251975|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131,SNOMED_CT:254637007|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0031287,MONDO:MONDO:0008420,MedGen:C0022603,OMIM:182000|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0004988,MedGen:C0858252|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0013038,MedGen:C2752042,OMIM:612918,Orphanet:ORPHA140944|MONDO:MONDO:0013125,MedGen:C2751313,OMIM:613089,Orphanet:ORPHA168984|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0023644,MedGen:C0220641|MedGen:C0153574|MedGen:C1868358|MedGen:CN233161|MedGen:CN517202;CLNDN=CEREBRAL_CAVERNOUS_MALFORMATIONS_4,_SOMATIC|Cerebrofacial_Vascular_Metameric_Syndrome_(CVMS)|MACRODACTYLY,_SOMATIC|Segmental_undergrowth_associated_with_lymphatic_malformation|Segmental_undergrowth_associated_with_mainly_venous_malformation_with_capillary_component|Hepatocellular_carcinoma|Abnormality_of_cardiovascular_system_morphology|Neoplasm|Medulloblastoma|Adrenocortical_carcinoma|Congenital_macrodactylia|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Neoplasm_of_stomach|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Renal_cell_carcinoma,_papillary,_1|Malignant_melanoma_of_skin|Rosette-forming_glioneuronal_tumor|Lung_adenocarcinoma|Non-small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Seborrheic_keratosis|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Carcinoma_of_colon|Breast_adenocarcinoma|Adenocarcinoma_of_prostate|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Congenital_lipomatous_overgrowth,_vascular_malformations,_and_epidermal_nevi|Capillary_malformation_of_the_lower_lip,_lymphatic_malformation_of_face_and_neck,_asymmetry_of_face_and_limbs,_and_partial/generalized_overgrowth|Brain_malformation|Familial_cancer_of_breast|Glioblastoma|Lip_and_oral_cavity_carcinoma|Malignant_neoplasm_of_body_of_uterus|OVARIAN_CANCER,_EPITHELIAL,_SOMATIC|PIK3CA_related_overgrowth_spectrum|not_provided;CLNHGVS=NC_000003.12:g.179234297A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P42336#VAR_026192|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_148|OMIM_Allelic_Variant:171834.0001;GENEINFO=PIK3CA:5290;MC=SO:0001583|missense_variant;ORIGIN=35;RS=121913279 4 2904980 18274 G T . . AF_EXAC=0.20187;AF_TGP=0.20847;ALLELEID=33313;CLNDISDB=MedGen:C3837651|MedGen:CN236559;CLNDN=Hypertension,_salt-sensitive_essential,_susceptibility_to|hydrochlorothiazide_response_-_Efficacy;CLNHGVS=NC_000004.12:g.2904980G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:981202806|UniProtKB_(protein):P35611#VAR_014184|OMIM_Allelic_Variant:102680.0001|PharmGKB:981202806;GENEINFO=ADD1:118;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4961 4 88131171 30389 G T . . AF_ESP=0.08450;AF_EXAC=0.11802;AF_TGP=0.11941;ALLELEID=39346;CLNDISDB=.|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MedGen:C1841837,OMIM:138900|MedGen:C3280986,OMIM:614490|MedGen:CN188728|MedGen:CN236578;CLNDN=rosuvastatin_response_-_Metabolism/PK|Neoplasm_of_ovary|Uric_acid_concentration,_serum,_quantitative_trait_locus_1|Blood_group,_Junior_system|Gemcitabine_response|rosuvastatin_response_-_Efficacy;CLNHGVS=NC_000004.12:g.88131171G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1154221922PA134308647|PharmGKB:1154221922|PharmGKB:1447982582|PharmGKB_Clinical_Annotation:1154221922|PharmGKB:1447982582PA448320|UniProtKB_(protein):Q9UNQ0#VAR_020780|OMIM_Allelic_Variant:603756.0007;GENEINFO=ABCG2:9429;MC=SO:0001583|missense_variant;ORIGIN=3;RS=2231142 5 148826877 225937 G A . . AF_EXAC=0.42036;AF_TGP=0.47564;ALLELEID=227753;CLNDISDB=MedGen:CN236580;CLNDN=salmeterol_response_-_Efficacy;CLNHGVS=NC_000005.10:g.148826877G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:655385102PA448068|PharmGKB_Clinical_Annotation:655385102|PharmGKB:655385102|PharmGKB:655385102PA451300;GENEINFO=ADRB2:154;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1042713 6 31575254 225964 G A . . AF_ESP=0.14142;AF_EXAC=0.16159;AF_TGP=0.09026;ALLELEID=227757;CLNDISDB=.|MedGen:CN236553;CLNDN=Susceptibility_to_severe_coronavirus_disease_(COVID-19)|etanercept_response_-_Efficacy;CLNHGVS=NC_000006.12:g.31575254G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:655384799PA164713366|PharmGKB:655384799PA449515|PharmGKB:655384799PA452639|PharmGKB:655384799|PharmGKB:655384799PA10004|PharmGKB_Clinical_Annotation:655384799;GENEINFO=TNF:7124;ORIGIN=1;RS=1800629 6 39357302 1327417 A G . . AF_ESP=0.50146;AF_EXAC=0.41760;AF_TGP=0.53974;ALLELEID=227759;CLNDISDB=MedGen:CN236575;CLNDN=pravastatin_response_-_Efficacy;CLNHGVS=NC_000006.12:g.39357302A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:1183491446|PharmGKB_Clinical_Annotation:1183491425;GENEINFO=KIF6:221458;MC=SO:0001583|missense_variant;ORIGIN=1 6 75828590 178957 C T . . AF_EXAC=0.00001;ALLELEID=174003;CLNDISDB=MONDO:MONDO:0011660,MedGen:C2931767,OMIM:606346|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Autosomal_dominant_nonsyndromic_deafness_22|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000006.12:g.75828590C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:138707;GENEINFO=MYO6:4646;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=727504567 6 75832925 45163 G A . . AF_ESP=0.00015;AF_EXAC=0.00035;ALLELEID=54330;CLNDISDB=MONDO:MONDO:0011660,MedGen:C2931767,OMIM:606346|MONDO:MONDO:0011912,MedGen:C1843028,OMIM:607821|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Autosomal_dominant_nonsyndromic_deafness_22|Deafness,_autosomal_recessive_37|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000006.12:g.75832925G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:279358;GENEINFO=MYO6:4646;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=201507590 6 75848478 45131 C T . . AF_ESP=0.00161;AF_EXAC=0.00159;AF_TGP=0.00040;ALLELEID=54298;CLNDISDB=MONDO:MONDO:0011660,MedGen:C2931767,OMIM:606346|MONDO:MONDO:0011912,MedGen:C1843028,OMIM:607821|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Autosomal_dominant_nonsyndromic_deafness_22|Deafness,_autosomal_recessive_37|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000006.12:g.75848478C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:155773;GENEINFO=MYO6:4646;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=145564837 6 75890234 164639 C T . . AF_ESP=0.00031;AF_TGP=0.00060;ALLELEID=174149;CLNDISDB=MONDO:MONDO:0011660,MedGen:C2931767,OMIM:606346|MONDO:MONDO:0011912,MedGen:C1843028,OMIM:607821|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Autosomal_dominant_nonsyndromic_deafness_22|Deafness,_autosomal_recessive_37|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000006.12:g.75890234C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:716142;GENEINFO=MYO6:4646;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=141845119 7 5973306 91278 G GT . . ALLELEID=96753;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000007.14:g.5973308dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*92dup;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=267608145 7 5973382 91277 C G . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=96752;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|not_specified|Breast_and/or_ovarian_cancer|none_provided;CLNHGVS=NC_000007.14:g.5973382C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.*17G>C|Illumina_Laboratory_Services,Illumina:302878|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3493;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=556089649 7 5973418 36691 C G . . ALLELEID=45352;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5973418C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2570G>C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3494|Illumina_Laboratory_Services,Illumina:257680;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1802683 7 5973522 36690 A G . . AF_EXAC=0.21137;AF_TGP=0.06270;ALLELEID=45351;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5973522A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2466T>C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3496|Illumina_Laboratory_Services,Illumina:57530;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=10000 7 5975991 91335 AGCACTTTGGGAGACCAAGGCGGGCAGATCATGAGGTCAGGAGATCAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTATTAAAAATATAAAAATTAGCCAGGTGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACATCACTGCACTCCAGCCTAGTAACAGAGCGAGACTCCGTCTCAAAAACAGACAAAGAAAAATGCTGTTTGAATCTCTTGACTGTGCTTACTGGCATCTAATGCGTGTCATTTATTTGTGGTGATGCCTATTTCTCCCCACTGTCTGCTCCACAGGGGCAGGGGCTGCAGCCGCCTTGTTACCTCTGTGTCCCGAGCACCTGGAGCAGGGCGGGCCCCACATCAGGGGCTCAAGGAGCACCTGCTGAATAAATAAAGGAATGGCGTCCTGGCCCTTCCCAGTGGCCAGCTGATACACAGTCACTTTTCTTGGACATCAGGCTAATCCCCACTGCAGGCAGAACCACTGCTGCCACCTTCCCACACCAACCGAAGCAGCGGCAGTGACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGGGACAGAGGGAGAATCTGTCTAAAAAAAAAAAAAAGAAGAATTCTGGGTTTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCT A . . ALLELEID=96810;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5976004_5977882del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2276-113_2445+1596del;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 7 5976797 91336 AGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGGGACAGAGGGAGAATCTGTCTAAAAAAAAAAAAAAGAAGAATTCTGGGTTTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTG A . . ALLELEID=96811;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5976806_5977856del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2276-91_2445+790del;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 7 5977589 91343 G A . . AF_EXAC=0.00003;ALLELEID=96818;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5977589G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2444C>T;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587779338 7 5977629 9237 G A . . ALLELEID=24276;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Lynch_syndrome|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5977629G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2404C>T|OMIM_Allelic_Variant:600259.0004;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63751466 7 5977668 91338 TGAAG T . . ALLELEID=96813;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5977669_5977672del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2361_2364del|OMIM_Allelic_Variant:600259.0003;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=267608160 7 5977693 91337 G A . . AF_ESP=0.00177;AF_EXAC=0.00044;AF_TGP=0.00120;ALLELEID=96812;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5977693G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3497|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2340C>T;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=142230276 7 5977709 36689 T C . . AF_EXAC=0.00037;ALLELEID=45350;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5977709T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Mayo_Clinic_Laboratories,Mayo_Clinic:415|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2324A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3498|UniProtKB_(protein):P54278#VAR_016135|Illumina_Laboratory_Services,Illumina:910472;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=17420802 7 5978618 36688 A G . . AF_EXAC=0.00003;ALLELEID=45349;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5978618A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2253T>C_2|Illumina_Laboratory_Services,Illumina:665559|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3499;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1805325 7 5978624 91333 ATTCT A . . ALLELEID=96808;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000007.14:g.5978625TTCT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2243_2246del;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=267608173 7 5978674 91331 CAGTTA C . . ALLELEID=96806;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5978679_5978683del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_16469_605|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2192_2196del;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63750695 7 5978683 91330 TGA T . . ALLELEID=96805;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000007.14:g.5978685AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_675|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2186_2187del|Illumina_Laboratory_Services,Illumina:585473|OMIM_Allelic_Variant:600259.0005;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587779335 7 5982823 91329 C T . . ALLELEID=96804;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5982823C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=MutSpliceDB:_a_database_of_splice_sites_variants_effects_on_splicing,NIH:CA010965|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2174+1G>A;GENEINFO=PMS2:5395;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=267608172 7 5982992 91326 C T . . ALLELEID=96801;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5982992C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2007-1G>A;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=267608170 7 5982995 91327 C T . . AF_EXAC=0.15479;AF_TGP=0.16274;ALLELEID=96802;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5982995C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3508|Illumina_Laboratory_Services,Illumina:41454|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2007-4G>A;GENEINFO=PMS2:5395;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1805326 7 5982998 36687 G A . . AF_EXAC=0.08847;AF_TGP=0.12800;ALLELEID=45348;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5982998G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:81898|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2007-7C>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3509;GENEINFO=PMS2:5395;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55954143 7 5986753 91324 C T . . AF_ESP=0.03112;AF_EXAC=0.08185;AF_TGP=0.11042;ALLELEID=96799;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5986753C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:83052|Mayo_Clinic_Laboratories,Mayo_Clinic:414|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3510|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006+6G>A;GENEINFO=PMS2:5395;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111905775 7 5986826 91321 T A . . AF_EXAC=0.00001;ALLELEID=96796;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000007.14:g.5986826T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:11029|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1939A>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=201451115 7 5986838 91320 G A . . AF_ESP=0.00008;ALLELEID=96795;CLNDISDB=Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MedGen:C2973725,Orphanet:ORPHA182090,SNOMED_CT:11399002|Human_Phenotype_Ontology:HP:0002093,Human_Phenotype_Ontology:HP:0004893,Human_Phenotype_Ontology:HP:0005937,Human_Phenotype_Ontology:HP:0006542,MedGen:C0035229|Human_Phenotype_Ontology:HP:0010444,MedGen:C0034088|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Pulmonary_arterial_hypertension|Respiratory_insufficiency|Pulmonary_insufficiency|Lynch_syndrome|Turcot_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5986838G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842494|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1927C>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63751422 7 5986883 9242 G A . . AF_EXAC=0.00003;ALLELEID=24281;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5986883G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600259.0009|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1882C>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63750451 7 5986899 41708 C T . . AF_ESP=0.01576;AF_EXAC=0.01760;AF_TGP=0.00819;ALLELEID=50147;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Neoplasm_of_ovary|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5986899C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1866G>A|UniProtKB_(protein):P54278#VAR_012973|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_949|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3512|Illumina_Laboratory_Services,Illumina:65882;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1805324 7 5986925 91318 T A . . ALLELEID=96793;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5986925T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2826664|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1840A>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63750490 7 5986933 91317 A AT . . ALLELEID=96792;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000007.14:g.5986937dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:286521|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2527584|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1831dup;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63750250 7 5986976 41707 T A . . AF_ESP=0.01161;AF_EXAC=0.00821;AF_TGP=0.00280;ALLELEID=50146;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5986976T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:65887|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3515|UniProtKB_(protein):P54278#VAR_012972|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1789A>T;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1805318 7 5986996 91314 AT A . . ALLELEID=96789;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5986997del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1768del;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63750477 7 5987027 91312 T A . . ALLELEID=96787;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5987027T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1738A>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=267608169 7 5987034 91310 C CT . . ALLELEID=96785;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000007.14:g.5987037dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1730dup|Invitae:710040;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587779330 7 5987054 41706 G T . . AF_ESP=0.00638;AF_EXAC=0.00244;AF_TGP=0.00559;ALLELEID=50145;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987054G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:483325|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:11020|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1711C>A;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63750055 7 5987077 41705 C A . . AF_ESP=0.00800;AF_TGP=0.00300;ALLELEID=50144;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987077C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1688G>T|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_561|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3516|Illumina_Laboratory_Services,Illumina:58029|HGMD:CM061908;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63750668 7 5987144 36686 T . . . AF_ESP=0.12962;AF_EXAC=0.14861;AF_TGP=0.11681;ALLELEID=45347;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987144%3D;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1621G>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:13347;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0002073|no_sequence_alteration;ORIGIN=1;RS=2228006 7 5987196 91306 G C . . AF_ESP=0.00208;AF_TGP=0.00080;ALLELEID=96781;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Lynch_syndrome|Malignant_tumor_of_breast|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987196G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:102084|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1569C>G|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_957|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3521|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2401127;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=141458772 7 5987233 41704 G A . . AF_ESP=0.02645;AF_EXAC=0.00939;AF_TGP=0.03694;ALLELEID=50143;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987233G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1532C>T|Illumina_Laboratory_Services,Illumina:289294|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3524;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=74902811 7 5987234 41703 T C . . AF_ESP=0.02076;AF_TGP=0.01098;ALLELEID=50142;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987234T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:64988|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3525|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1531A>G|UniProtKB_(protein):P54278#VAR_012971;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=2228007 7 5987277 91304 G A . . AF_ESP=0.02568;AF_EXAC=0.00743;AF_TGP=0.03175;ALLELEID=96779;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987277G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:485711|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3528|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1488C>T;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1805320 7 5987311 41702 G T . . AF_ESP=0.03352;AF_TGP=0.11202;ALLELEID=50141;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987311G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P54278#VAR_012970|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1454C>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3529|Illumina_Laboratory_Services,Illumina:83062;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1805323 7 5987357 36685 G A . . AF_ESP=0.37383;AF_EXAC=0.38539;AF_TGP=0.35823;ALLELEID=45346;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5987357G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3531|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1408C>T|Illumina_Laboratory_Services,Illumina:41466|UniProtKB_(protein):P54278#VAR_016134;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1805321 7 5987458 91300 C CT . . ALLELEID=96775;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008;CLNDN=Lynch_syndrome|Turcot_syndrome;CLNHGVS=NC_000007.14:g.5987459dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:600259.0017|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1306dup;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=63750106 7 5987504 91299 G A . . ALLELEID=96774;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|not_provided;CLNHGVS=NC_000007.14:g.5987504G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1261C>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587778617 7 5987543 9235 TC T . . ALLELEID=24274;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101;CLNDN=Lynch_syndrome|Mismatch_repair_cancer_syndrome_4;CLNHGVS=NC_000007.14:g.5987545del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:600259.0002|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1221del;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587776715 7 5989093 91385 GCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCA G . . ALLELEID=96860;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435;CLNDN=Lynch_syndrome|Lynch_syndrome_I;CLNHGVS=NC_000007.14:g.5989115_5990272del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.989-296_1144+706del;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 7 5989798 91291 A T . . ALLELEID=96766;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4;CLNHGVS=NC_000007.14:g.5989798A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1144+2T>A|OMIM_Allelic_Variant:600259.0008;GENEINFO=PMS2:5395;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267608158 7 5989831 91290 AT TAAA . . ALLELEID=96765;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5989831_5989832delinsTAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1112_1113delinsTTTA;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779326 7 5989867 91289 C CA . . ALLELEID=96764;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5989870dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1076dup;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267608156 7 5989922 9240 CT C . . ALLELEID=24279;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5989926del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:600259.0007|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1021del|PMS2_@_LOVD:PMS2_00045|Invitae:1416336;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750049 7 5989957 91386 T C . . ALLELEID=96861;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5989957T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.989-2A>G;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779347 7 5992012 91383 G A . . ALLELEID=96858;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5992012G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.949C>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=143277125 7 5992018 91382 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=96857;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN221576|MedGen:CN517202;CLNDN=Lynch_syndrome|Malignant_tumor_of_breast|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|Colorectal_cancer,_non-polyposis|not_provided;CLNHGVS=NC_000007.14:g.5992018G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834203|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.943C>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=200640585 7 5995534 91377 C A . . ALLELEID=96852;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5995534C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.903G>T|Illumina_Laboratory_Services,Illumina:811525;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608153 7 5995572 91375 ACTGT A . . ALLELEID=96850;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5995573CTGT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.861_864del|Invitae:108128;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608154 7 5995573 91376 CTG C . . ALLELEID=96851;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5995575_5995576del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.862_863del|Invitae:261183;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750246 7 5995876 91371 C T . . AF_TGP=0.15176;ALLELEID=96846;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5995876C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.804-243G>A;GENEINFO=PMS2:5395;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2286680 7 5997074 91309 TGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCGTCTCAAGAAAAAAAAAAAAAGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAAAAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAACCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAATGAGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCACAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAGAATCTTTTGTTTTGTTTTGTTTTTTGAGACAGGGTCTCCCTCTATTGCCCAGGCTGGAGTACAATGGCTCAATCATACCTCACTGCAATGTCAAACTCGTGGGTTCAAGCAATCCTCCTGCGTCAGCCTGTCGAGTGAGTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAATTTTTTAATTTTTTTGTAGAGATGGGATCTTGCCGTGTTATCCAAGCTGGTCTTAAATTCCTGGGCTCAAGCGATTCTCCCACCTCAAAATTGTTGGCCGGGTGGTTCAAACACATAATCCCAACAGTTTCCTCTCCCAGAGTGCTGGGATTACATGTGTGAGCCGTGGGAACAACAATTTTGATTTTATGATATAAGAAAGATGAAACAAGTACCTACTTATTCAGAACCCACACATTGCCCACAATAACTTATATTTTTTTCAGAGAGAGAGTGAAAAGACGCAGTATACGAGTGTCTCTGGAAGAATAAAATGAAACACATTCAGCTCTCAAACATCAATTTTTGTGATAGGTACTTTGTTTTTTTTTTTTTTTTTTTCCTGGGATGGTGTCTTGCTCTCTCGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCATCTCCCGGGTTCCAGCGACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGAACAGATAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGATCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCGGGCCTTGTGATAGGCACTTTAAAAATCAATTCTTAATCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTAGAGGTCAGGAGTTCGAGGCCAGTCTGGCCAACAAGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAATTGCTTCAACGCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAACCGGCCGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCCTGGCGTAGTGGAGCATGCTTGTAATCCCACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACAACACCACTGCACTCCAGCCTGGGCAGCAGTGCGAGACTCCCTCTCAAAAAAAAAAAAAAAATCAATTCTAAGATTTTATTCTCCATTCTACTGGAAGGGACAATGGAAACCCGCTATAATCACTAGAGCAATAAGAGGCGTTGAAGTAACCGGCCATCACTACCTGCTTCTGCCCAAACACAGAGCCGATATTTTCCTTTATGCTGGGGCTTCCACCTGTGCATACCACAGGCTGTCGTTTTCCTTGTCCAAGCTGATTGGTGCAACTTACACGGATGCCTGCTGAAATGATACAGTATGCATGTAAGACCTGGACCATTTTGGCATACTCCTGTTTAAAAAACACAAACACAATATTCTACATTACTTTAATATTATAGGAATTACACAGCTCAAGTTACAACATCCAACGCAAGGTTCTCACATCATCGCACAAATCAAGGGAAGCACTGTTGACAGAATGATCTGTAAAGAGGTGTCTTCCTATATTCTACAGAAAGGAACGCAGAGCTTTTGGCTCCTGGTCACAGTCCTCTCACTTCCCAATGTGCCATGCATCCTGGTAAAACAACTAAAAAGTACAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGCAGGAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGTCTCTACAAAAAATTTAAAAAAAAAATTAGCCGGGCGTCATGGCATGTGCCTGTAGTCACAGCTACTGAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGTTCAAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTCGGTGACAGAGTGAGGCCCTATCTCTAAAAATGAAAATTAAAAAACTGAAACGTACATTGTGTTTGATTTTATAATCTCTCCTTTTGAAATGTATCTTCGTATAATAGAAACACTGGCACAAGCATTTTGGTATGCAAAGAGATACACAAAAATGTTCACTGAAACAATCTCTATGAACAAACAGAAACAACCTAAGCAAGCATCATTGAGGAGTTGATTAATTATGGTATAGCCATAGCGCAGCAGAATGACAACAAATAAGGCAGTGTGCACCGACTAAAAAAGACAATCACAATATGCTAAGTAAAAAGTCAGTTATAGGGCCAGGCATGATGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCCACGAGTTCGAGACCTGCCTGGGCAACACAGAAGGACCCATCTCTACAAAAAAAACAAAAATTAGCCGGGCATGGTAGCACGGGCCTGGAGTCCCAGCTACTTGGGAGGCTGAAGTGGGAAGATTCATTGAGCCTGGGAGATCATGGCTGCGGTAAGCTGAGATTGTGCCACTACATCCCAGCCTAGGTGAGAGAGCAAGACCCTGTCTCAATTAAAAAAAAAAAAAAAAAAAAAATACAACTTTCAACCACATACAATTCTGTATTACTTGCATGTTGTACATTCTATATTACTTGCTTTCATTATATTAACTTATGAATTTATCTTGAAAATTATTCCAACAGTTATAAACACATGAAATTAAAAGCAGCCTGAAAAGATATACAAACTGTAAATAACAGTTATCTCTGACAAATAGAAGTTCTACATTCCTGTATTCTGCTAAGGCACTAATTTTTTTACCATAAGATACAAAAAAAGAGTAAGTTTTCTCTACTTTAGAAAATTTAAATTTGTGAAAAAATGTAATAAAGTTAAAATTAGCAGCCAAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGGGTGCAAGACCAGGCTAGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTATAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGAAGACTCCATCTAAAAAAAAAGAAAGTTAAAATTAGCACCAAATGCTTTACAAGTAAAAAAAGTTTTTAGCTGCATATGTTTAAGTAACTTTTTAGATTATGAAAAACACACATACAAAATGGGAAGGCACAAAGAAGACAGCAAAAACTGCATGAGATCTCACATCCAAGGATAACTGCTGAGAACATGAAAGTGCCGAGTCTTCCAGCCTTTATACTATACACATTTAGGCTTGTTGTTTTGTTTTCACAAAATTGTAATCAAATAATACAGACAGTTCTATAATCTGCTTTTTAAACACAACGACTATATAACATTTAGCTATTTTCATTTGCATTCAAATTCATAAGGGTTCTAATAGCTCATTTCTCAGAAAACCAAGAGAAATATTCTTTTTTTTTTTTTTTTGAGATGGGGTCTGGCTCTGTGCCCAGGCTGGAGTGCAATAGCTTGATCTCGGCTCACCGCAACCTCTGCCTCCCGGATTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAGTTTGGCCAGGATGGCTTTGATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCGAGAAATATTCTTATTAAAATATAAGTACATAAGGCCAGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCT CG . . ALLELEID=96784;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5997074_6004576delinsCG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.164-518_803+252delinsC;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001582|initiatior_codon_variant;ORIGIN=1 7 5997326 91369 T TA . . ALLELEID=96844;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000007.14:g.5997332dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.802dup|Invitae:4866144;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608149 7 5997348 91367 CG C . . ALLELEID=96842;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5997350del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.780del;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779344 7 5997349 36693 G C . . AF_ESP=0.82377;AF_TGP=0.83127;ALLELEID=45354;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5997349G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.780C>G_2|Illumina_Laboratory_Services,Illumina:41476|Mayo_Clinic_Laboratories,Mayo_Clinic:416|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3539;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1805319 7 5997388 91366 AGGGGG CTTCACACACA . . ALLELEID=96841;CLNDISDB=Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:ORPHA223735|Human_Phenotype_Ontology:HP:0030080,MONDO:MONDO:0007243,MedGen:C0006413,OMIM:113970,Orphanet:ORPHA543,SNOMED_CT:77381001|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:C0009405|MedGen:CN517202;CLNDN=Lymphoma|Burkitt_lymphoma|Carcinoma_of_colon|Lynch_syndrome|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5997388_5997393delinsCTTCACACACA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=PMS2_@_LOVD:PMS2_00263|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.736_741delinsTGTGTGTGA|OMIM_Allelic_Variant:600259.0015;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608150 7 5998651 91357 GCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCAGCTCAAAAAAAAAAAAAACCGGCCGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGGATCACGAGGTCAGGAATTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCCTGGCGTAGTGGAGCATGCTTGTAATCCCACTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGACAACACCACTGCACTCCAGCCTGGGCAGCAGTGCGAGACTCCCTCTCAAAAAAAAAAAAAAAATCAATTCTAAGATTTTATTCTCCATTCTACTGGAAGGGACAATGGAAACCCGCTATAATCACTAGAGCAATAAGAGGCGTTGAAGTAACCGGCCATCACTACCTGCTTCTGCCCAAACACAGAGCCGATATTTTCCTTTATGCTGGGGCTTCCACCTGTGCATACCACAGGCTGTCGTTTTCCTTGTCCAAGCTGATTGGTGCAACTTACACGGATGCCTGCTGAAATGATACAGTATGCATGTAAGACCTGGACCATTTTGGCATACTCCTGTTTAAAAAACACAAACACAATATTCTACATTACTTTAATATTATAGGAATTACACAGCTCAAGTTACAACATCCAACGCAAGGTTCTCACATCATCGCACAAATCAAGGGAAGCACTGTTGACAGAATGATCTGTAAAGAGGTGTCTTCCTATATTCTACAGAAAGGAACGCAGAGCTTTTGGCTCCTGGTCACAGTCCTCTCACTTCCCAATGTGCCATGCATCCTGGTAAAACAACTAAAAAGTACAGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGCAGGAGGATCACTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAGACCCTGTCTCTACAAAAAATTTAAAAAAAAAATTAGCCGGGCGTCATGGCATGTGCCTGTAGTCACAGCTACTGAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGTTCAAGGCTGCAGTGAGCCATGATTGCA G . . ALLELEID=96832;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5998665_5999766del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.538-478_705+456del;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 7 5999091 36692 T C . . AF_ESP=0.34392;AF_EXAC=0.36776;AF_TGP=0.32568;ALLELEID=45353;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000007.14:g.5999091T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.705+17A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3542;GENEINFO=PMS2:5395;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62456182 7 5999107 91364 C A . . ALLELEID=96839;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms;CLNHGVS=NC_000007.14:g.5999107C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.705+1G>T;GENEINFO=PMS2:5395;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267608147 7 5999110 91363 G A . . ALLELEID=96838;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|not_provided;CLNHGVS=NC_000007.14:g.5999110G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.703C>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750261 7 5999116 91362 G A . . ALLELEID=96837;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.5999116G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.697C>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779343 7 5999219 91360 G GA . . ALLELEID=96835;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5999220dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.593dup;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=267608148 7 5999269 91358 CA C . . ALLELEID=96833;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5999270del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.543del;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63751029 7 5999498 91356 T C . . AF_TGP=0.16693;ALLELEID=96831;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.5999498T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.538-223A>G;GENEINFO=PMS2:5395;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2345060 7 6002590 9234 G A . . AF_EXAC=0.00001;ALLELEID=24273;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.6002590G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831209|OMIM_Allelic_Variant:600259.0001|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.400C>T;GENEINFO=PMS2:5395;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750871 7 6002606 91355 C T . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=96830;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374;CLNDN=Breast_neoplasm|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified;CLNHGVS=NC_000007.14:g.6002606C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_958|Illumina_Laboratory_Services,Illumina:575634|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.384G>A;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=371342884 7 6003755 91350 G A . . AF_ESP=0.02451;AF_EXAC=0.08050;AF_TGP=0.11362;ALLELEID=96825;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.6003755G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:83065|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3550|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.288C>T;GENEINFO=PMS2:5395;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=12532895 7 6003794 91345 T C . . ALLELEID=96820;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6003794T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.251-2A>G;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779340 7 6003864 91346 T C . . AF_TGP=0.01777;ALLELEID=96821;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN169374|MedGen:CN517202;CLNDN=Lynch_syndrome|not_specified|not_provided;CLNHGVS=NC_000007.14:g.6003864T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.251-72A>G;GENEINFO=PMS2:5395;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117831773 7 6004001 91332 C CCA . . ALLELEID=96807;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6004002CA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.219_220dup;GENEINFO=PMS2:5395;MC=SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779336 7 6004039 91316 AT A . . ALLELEID=96791;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101;CLNDN=Lynch_syndrome|Mismatch_repair_cancer_syndrome_4;CLNHGVS=NC_000007.14:g.6004040del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=PMS2_@_LOVD:PMS2_00122|OMIM_Allelic_Variant:600259.0014|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.182del;GENEINFO=PMS2:5395;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=63750793 7 6004042 91315 G C . . AF_ESP=0.00046;AF_EXAC=0.00102;ALLELEID=96790;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000007.14:g.6004042G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.180C>G|Illumina_Laboratory_Services,Illumina:678650;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=200313585 7 6004060 91308 T C . . ALLELEID=96783;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6004060T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.164-2A>G;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587779324 7 6005890 91307 A G . . ALLELEID=96782;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:CN517202;CLNDN=Lynch_syndrome|not_provided;CLNHGVS=NC_000007.14:g.6005890A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.163+2T>C;GENEINFO=PMS2:5395;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587779329 7 6005918 9245 C A . . ALLELEID=24284;CLNDISDB=Human_Phenotype_Ontology:HP:0011763,MONDO:MONDO:0017582,MedGen:C0346300,Orphanet:ORPHA300385|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Pituitary_carcinoma|Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000007.14:g.6005918C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P54278#VAR_066838|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3554|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.137G>T_2|OMIM_Allelic_Variant:600259.0012|Illumina_Laboratory_Services,Illumina:616257;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=121434629 7 6005948 91341 CTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA ATTT . . ALLELEID=96816;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.6005948_6006043delinsATTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.24-12_107delinsAAAT;GENEINFO=PMS2:5395;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1554306445 7 6005996 41716 C T . . AF_ESP=0.07090;AF_EXAC=0.07818;AF_TGP=0.07568;ALLELEID=50155;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.6005996C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3558|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.59G>A|UniProtKB_(protein):P54278#VAR_004469|Illumina_Laboratory_Services,Illumina:81918;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=10254120 7 6006003 41713 T C . . AF_ESP=0.00834;AF_EXAC=0.00908;AF_TGP=0.00319;ALLELEID=50152;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0009405|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.6006003T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:226835|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_313|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3559|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.52A>G;GENEINFO=PMS2:5395;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=63750123 7 6009019 91323 T C . . ALLELEID=96798;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435|MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:ORPHA252202,SNOMED_CT:61665008|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:ORPHA443909|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MedGen:C0009405|MedGen:CN517202;CLNDN=Lynch_syndrome|Lynch_syndrome_I|Turcot_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_4|Hereditary_cancer-predisposing_syndrome|Hereditary_nonpolyposis_colon_cancer|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided;CLNHGVS=NC_000007.14:g.6009019T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_954|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1A>G_3|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:3561;GENEINFO=PMS2:5395;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779333 7 6009112 91286 C T . . ALLELEID=96761;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6009112C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-93G>A_2;GENEINFO=PMS2:5395;ORIGIN=1;RS=6976537 7 6009173 91280 G C . . AF_TGP=0.15615;ALLELEID=96755;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6009173G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-154C>G;GENEINFO=PMS2:5395;ORIGIN=1;RS=3735296 7 6009214 91281 A G . . AF_TGP=0.12121;ALLELEID=96756;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6009214A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-195T>C;GENEINFO=PMS2:5395;ORIGIN=1;RS=2302336 7 6009342 91284 C A . . AF_ESP=0.24150;AF_EXAC=0.22118;AF_TGP=0.23203;ALLELEID=96759;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6009342C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-323G>T;GENEINFO=PMS2:5395|AIMP2:7965;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1062372 7 6011165 91282 G T . . AF_TGP=0.12041;ALLELEID=96757;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6011165G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-2146C>A;GENEINFO=PMS2:5395|AIMP2:7965;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=77199218 7 6011578 91283 A T . . AF_TGP=0.12041;ALLELEID=96758;CLNDISDB=MONDO:MONDO:0005835,MedGen:C4552100,OMIM:PS120435,Orphanet:ORPHA144;CLNDN=Lynch_syndrome;CLNHGVS=NC_000007.14:g.6011578A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.-2559T>A;GENEINFO=PMS2:5395|AIMP2:7965;MC=SO:0001627|intron_variant;ORIGIN=1;RS=78453798 7 55181378 16613 C T . . AF_EXAC=0.00004;ALLELEID=31652;CLNDISDB=Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131,SNOMED_CT:254637007|MONDO:MONDO:0005138,MedGen:C0684249|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C4016033|MedGen:CN130014|MedGen:CN225347|MedGen:CN236552|MedGen:CN236558|MedGen:CN517202;CLNDN=Non-small_cell_lung_carcinoma|Lung_carcinoma|Hereditary_cancer-predisposing_syndrome|Nonsmall_cell_lung_cancer,_resistance_to_tyrosine_kinase_inhibitor_in|EGFR-related_lung_cancer|Tyrosine_kinase_inhibitor_response|erlotinib_response_-_Efficacy|gefitinib_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.55181378C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:981475450|PharmGKB:981475450PA131301952|PharmGKB_Clinical_Annotation:981475450|UniProtKB_(protein):P00533#VAR_026098|OMIM_Allelic_Variant:131550.0006|PharmGKB:981475450PA134687924;GENEINFO=EGFR:1956|EGFR-AS1:100507500;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=121434569 7 55191822 16609 T G . . ALLELEID=31648;CLNDISDB=Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131,SNOMED_CT:254637007|MONDO:MONDO:0005138,MedGen:C0684249|MedGen:C1851577|MedGen:C4016032|MedGen:CN077981|MedGen:CN077987|MedGen:CN225347|MedGen:CN236558;CLNDN=Lung_adenocarcinoma|Non-small_cell_lung_carcinoma|Lung_carcinoma|Adenocarcinoma_of_lung,_response_to_tyrosine_kinase_inhibitor_in,_somatic|Nonsmall_cell_lung_cancer,_response_to_tyrosine_kinase_inhibitor_in,_somatic|Erlotinib_response|Gefitinib_response|Tyrosine_kinase_inhibitor_response|gefitinib_response_-_Efficacy;CLNHGVS=NC_000007.14:g.55191822T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:981420042|PharmGKB:981475880|PharmGKB:981475838|PharmGKB_Clinical_Annotation:981420042|PharmGKB_Clinical_Annotation:981475838|UniProtKB_(protein):P00533#VAR_019298|OMIM_Allelic_Variant:131550.0002|PharmGKB_Clinical_Annotation:981475880|PharmGKB:981475838PA134687924|PharmGKB:981420042PA131301952;GENEINFO=EGFR:1956;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121434568 7 99767460 1327418 G A . . ALLELEID=1317930;CLNDISDB=.;CLNDN=tacrolimus_response_-_Metabolism/PK;CLNHGVS=NC_000007.14:g.99767460G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CYP3A4:1576;MC=SO:0001627|intron_variant;ORIGIN=1 7 107660756 4838 T C . . ALLELEID=19877;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN169374|MedGen:CN239421|MedGen:CN517202;CLNDN=Hearing_impairment|Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|not_specified|SLC26A4-Related_Disorders|not_provided;CLNHGVS=NC_000007.14:g.107660756T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:594422|OMIM_Allelic_Variant:605646.0027;GENEINFO=SLC26A4:5172|SLC26A4-AS1:286002;ORIGIN=1;RS=60284988 7 107661788 227949 C G . . AF_EXAC=0.00000;ALLELEID=229532;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107661788C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:636703|National_Institute_of_Sensory_Organs,National_Hospital_Organization_Tokyo_Medical_Center:SLC26A4_S49R;GENEINFO=SLC26A4:5172|SLC26A4-AS1:286002;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=5;RS=756969021 7 107663331 43531 C G . . AF_EXAC=0.00001;ALLELEID=52700;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107663331C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033240 7 107672182 43555 C T . . AF_ESP=0.00015;AF_EXAC=0.00023;AF_TGP=0.00020;ALLELEID=52724;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN169374|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|not_specified|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107672182C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:282262|National_Institute_of_Sensory_Organs,National_Hospital_Organization_Tokyo_Medical_Center:SLC26A4_L117F|UniProtKB_(protein):O43511#VAR_021647|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:168585;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145254330;CLNDISDBINCL=MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791;CLNDNINCL=Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct;CLNSIGINCL=424816:Pathogenic 7 107672192 189148 C CT . . ALLELEID=186730;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN517202;CLNDN=Pendred_syndrome|not_provided;CLNHGVS=NC_000007.14:g.107672198dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4571681;GENEINFO=SLC26A4:5172;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204730 7 107672245 4835 G T . . AF_EXAC=0.00021;ALLELEID=19874;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN239421|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Hearing_impairment|Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|SLC26A4-Related_Disorders|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107672245G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:280804|UniProtKB_(protein):O43511#VAR_021651|OMIM_Allelic_Variant:605646.0024;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033199 7 107674157 43558 T C . . AF_ESP=0.00138;AF_TGP=0.00100;ALLELEID=52727;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107674157T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1394880;GENEINFO=SLC26A4:5172;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111033387 7 107674302 188878 G C . . AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=186731;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN239421|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|SLC26A4-Related_Disorders|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107674302G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:796553|UniProtKB_(protein):O43511#VAR_064991;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=542620119 7 107674313 43560 G T . . AF_ESP=0.00408;AF_TGP=0.00359;ALLELEID=52729;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107674313G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35045430 7 107675050 43565 C G . . AF_EXAC=0.00003;ALLELEID=52734;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN169374|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|not_specified|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107675050C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:142565;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033242 7 107683281 43568 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=52737;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107683281G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033454 7 107683453 4840 A G . . AF_EXAC=0.00031;ALLELEID=19879;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|Deafness,_autosomal_recessive|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107683453A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605646.0029|National_Institute_of_Sensory_Organs,National_Hospital_Organization_Tokyo_Medical_Center:SLC26A4_c.919-2AG;GENEINFO=SLC26A4:5172;MC=SO:0001574|splice_acceptor_variant;ORIGIN=5;RS=111033313 7 107689054 4842 T C . . AF_TGP=0.00080;ALLELEID=19881;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN235283|MedGen:CN239421|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|none_provided|SLC26A4-Related_Disorders|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107689054T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:294606|UniProtKB_(protein):O43511#VAR_021656|OMIM_Allelic_Variant:605646.0031|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:94584;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=9;RS=111033212 7 107689120 43491 G A . . AF_ESP=0.00146;AF_EXAC=0.00049;AF_TGP=0.00220;ALLELEID=52661;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107689120G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:685048;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145467740 7 107690178 43495 G A . . ALLELEID=52665;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN239421|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|SLC26A4-Related_Disorders|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107690178G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O43511#VAR_058580|Illumina_Laboratory_Services,Illumina:603067;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516414 7 107690203 43498 C T . . AF_ESP=0.00023;AF_EXAC=0.00019;AF_TGP=0.00020;ALLELEID=52668;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|Deafness,_autosomal_recessive|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107690203C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O43511#VAR_021661|National_Institute_of_Sensory_Organs,National_Hospital_Organization_Tokyo_Medical_Center:SLC26A4_T410M;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=5;RS=111033220 7 107690236 430229 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=421612;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN517202;CLNDN=Pendred_syndrome|not_provided;CLNHGVS=NC_000007.14:g.107690236A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201660407 7 107694642 43507 A T . . AF_EXAC=0.00436;AF_TGP=0.00759;ALLELEID=52677;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|Primary_autosomal_recessive_microcephaly_5|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107694642A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:125529|UniProtKB_(protein):O43511#VAR_021666;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375576481 7 107698111 43517 C T . . AF_ESP=0.00100;AF_EXAC=0.00029;AF_TGP=0.00040;ALLELEID=52686;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107698111C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC26A4:5172;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=111033193 7 107701083 256155 T A . . AF_ESP=0.02215;AF_EXAC=0.02518;AF_TGP=0.01318;ALLELEID=252559;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Pendred_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.107701083T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:646152;GENEINFO=SLC26A4:5172;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55701254 7 107701101 43521 G A . . AF_EXAC=0.00002;ALLELEID=52690;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107701101G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516421 7 107701947 43527 T C . . AF_EXAC=0.00055;ALLELEID=52696;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107701947T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:766490;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516423 7 107701986 43528 A G . . AF_EXAC=0.00003;ALLELEID=52697;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN169374|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|not_specified|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107701986A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516424 7 107710109 43541 G T . . AF_EXAC=0.00013;AF_TGP=0.00020;ALLELEID=52710;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Pendred_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000007.14:g.107710109G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516427 7 107712594 43546 C T . . AF_ESP=0.00031;AF_EXAC=0.00010;ALLELEID=52715;CLNDISDB=MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:ORPHA705,SNOMED_CT:70348004|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791|MedGen:CN169374|MedGen:CN517202;CLNDN=Pendred_syndrome|Deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct|not_specified|not_provided;CLNHGVS=NC_000007.14:g.107712594C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:471664;GENEINFO=SLC26A4:5172;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150597240 7 117480081 53158 GCGCCCGAGAGACCATGCAGAGGT G . . ALLELEID=67826;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117480086_117480108del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:259|CFTR2:124del23bp;GENEINFO=CFTR:1080|LOC111674463:111674463;MC=SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant;ORIGIN=1;RS=397508136 7 117480095 53423 A G . . AF_EXAC=0.00004;ALLELEID=68091;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117480095A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:M1V|CFTR-France:c.1A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1730013;GENEINFO=CFTR:1080;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=397508328 7 117480098 53980 C T . . ALLELEID=68647;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117480098C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.4C>T|CFTR2:Q2X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508740;CLNDISDBINCL=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDNINCL=Cystic_fibrosis;CLNSIGINCL=1320029:Pathogenic 7 117480105 53211 C A . . ALLELEID=67879;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117480105C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S4X|CFTR2:234|CFTR-France:c.11C>A;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508173 7 117480132 53845 C T . . ALLELEID=68512;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117480132C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844705|UniProtKB_(protein):P13569#VAR_000101|CFTR2:S13F;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508635 7 117480137 53984 CT C . . ALLELEID=68651;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117480144del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4089100|CFTR2:182delT|CFTR2:245;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508714 7 117480138 634833 T C . . ALLELEID=622700;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117480138T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1814742|CFTR2:L15P;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1562876459 7 117480148 53988 G T . . AF_EXAC=0.00001;ALLELEID=68655;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117480148G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.53+1G>T|CFTR2:251|CFTR2:185+1G->T;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508746 7 117504250 53998 TAGCTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAA T . . ALLELEID=68665;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504253_117504363del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:CFTRdele2|CFTR2:222;GENEINFO=CFTR:1080;ORIGIN=1;RS=1562882675 7 117504256 487391 G A . . ALLELEID=480433;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117504256G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W19X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508762 7 117504278 54059 G A . . ALLELEID=68726;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504278G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:G27R;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508796 7 117504278 54061 G T . . AF_EXAC=0.00001;ALLELEID=68728;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504278G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.79G>T|CFTR2:239|CFTR2:G27X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508796 7 117504287 54081 C T . . ALLELEID=68748;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504287C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q30X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508815 7 117504291 54087 G T . . ALLELEID=68754;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:C3279211|MedGen:CN517202;CLNDN=Cystic_fibrosis|Lung_disease,_non-specific|not_provided;CLNHGVS=NC_000007.14:g.117504291G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000103;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149353983 7 117504314 53204 C T . . ALLELEID=67872;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117504314C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q39X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508168 7 117504336 53238 C A . . ALLELEID=67906;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504336C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.137C>A|CFTR2:A46D|CFTR2:192;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=151020603 7 117504364 53303 G A . . ALLELEID=67971;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504364G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:296+1G->A|CFTR2:279;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508243 7 117504364 53305 G T . . ALLELEID=67973;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504364G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:296+1G->T;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508243 7 117504365 53306 T C . . ALLELEID=67974;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504365T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:296+2T->C;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=121908800 7 117504366 53308 A AT . . ALLELEID=67976;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117504367dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:296+3insT;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397508244 7 117504391 235283 A G . . AF_ESP=0.00592;AF_EXAC=0.00195;AF_TGP=0.00539;ALLELEID=236970;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117504391A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34010645 7 117509031 53317 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=67985;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases;CLNHGVS=NC_000007.14:g.117509031C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.165-3C>T|CFTR2:297-3C->T;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200337193 7 117509033 53314 G A . . ALLELEID=67982;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117509033G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:297-1G->A|CFTR2:210;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397508249 7 117509035 53325 G A . . ALLELEID=67993;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN236562;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|ivacaftor_response_-_Efficacy;CLNHGVS=NC_000007.14:g.117509035G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic/Likely_pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449191373PA165950341|CFTR-France:c.166G>A|CFTR2:170|CFTR2:E56K;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508256 7 117509035 53343 GA G . . ALLELEID=68011;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117509037del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR-France:c.168delA;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508269 7 117509038 53347 T G . . ALLELEID=68015;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117509038T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W57G|UniProtKB_(protein):P13569#VAR_000108|CFTR-France:c.169T>G;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508272 7 117509039 53355 G A . . ALLELEID=68023;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117509039G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.170G>A|CFTR2:W57X(c.170G>A)|CFTR2:258;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508279 7 117509040 7179 G A . . ALLELEID=22218;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117509040G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W57X(c.171G>A)|OMIM_Allelic_Variant:602421.0075|CFTR-France:c.171G>A|CFTR2:258_1;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001587|nonsense;ORIGIN=1;RS=121909025 7 117509040 53373 GGATA G . . ALLELEID=68041;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117509043_117509046del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:306delTAGA|CFTR-France:c.174_177del;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508295 7 117509043 487400 T TA . . ALLELEID=480434;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117509044dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4084349|CFTR2:306insA|CFTR-France:c.175dup|CFTR2:191;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508294 7 117509047 53386 G A . . ALLELEID=68054;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117509047G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.178G>A|CFTR2:E60K;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77284892 7 117509047 38730 G T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=47335;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117509047G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.178G>T|CFTR2:E60X;GENEINFO=CFTR:1080|LOC113664106:113664106;MC=SO:0001587|nonsense;ORIGIN=1;RS=77284892 7 117509069 53425 C T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=68093;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN236562|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117509069C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic/Likely_pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:P67L|UniProtKB_(protein):P13569#VAR_000109|CFTR-France:c.200C>T|PharmGKB:1449191379PA165950341|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842537;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368505753 7 117509089 196277 C T . . AF_ESP=0.00423;AF_EXAC=0.00172;AF_TGP=0.00539;ALLELEID=193438;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN235283|MedGen:CN236562|MedGen:CN517202;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|not_specified|none_provided|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117509089C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132832|Illumina_Laboratory_Services,Illumina:584399|PharmGKB:1449191385PA165950341|UniProtKB_(protein):P13569#VAR_000110;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=115545701;CLNDISDBINCL=MedGen:CN169374;CLNDNINCL=not_specified;CLNSIGINCL=977735:Uncertain_significance 7 117509092 48672 C T . . AF_EXAC=0.00002;ALLELEID=57834;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117509092C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:R75X|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2352753|CFTR-France:c.223C>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908749 7 117509096 53475 G GT . . ALLELEID=68143;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117509102dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2609620|CFTR2:365-366insT|CFTR2:275|CFTR-France:c.233dup;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508360 7 117509127 7232 CTT C . . ALLELEID=22271;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117509131_117509132del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:236828|CFTR2:394delTT|OMIM_Allelic_Variant:602421.0128|CFTR-France:c.262_263delTT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:135878;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908769 7 117509132 53532 T A . . ALLELEID=68200;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117509132T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L88X(T>A);GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508412 7 117509132 53534 T G . . ALLELEID=68202;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117509132T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L88X(T>G);GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508412 7 117509140 7183 G A . . AF_EXAC=0.00001;ALLELEID=22222;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117509140G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:G91R|OMIM_Allelic_Variant:602421.0079|UniProtKB_(protein):P13569#VAR_000114|CFTR-France:c.271G>A;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908750 7 117509143 53549 G A . . AF_EXAC=0.00001;ALLELEID=68217;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117509143G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.273+1G>A|CFTR2:405+1G->A;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=121908791 7 117509145 35846 A C . . ALLELEID=44510;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117509145A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:282|CFTR2:405+3A->C;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74467662 7 117530897 53556 A G . . ALLELEID=68224;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117530897A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.274-2A>G|CFTR2:406-2A->G;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397508426 7 117530898 48680 G A . . AF_EXAC=0.00001;ALLELEID=57842;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117530898G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cystic_Fibrosis_Mutation_Database:885|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840937|CFTR2:406-1G->A;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=33;RS=121908792 7 117530899 7181 G A . . ALLELEID=22220;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117530899G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.274G>A|UniProtKB_(protein):P13569#VAR_000115|CFTR2:E92K|OMIM_Allelic_Variant:602421.0077;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908751 7 117530899 7186 G T . . AF_EXAC=0.00001;ALLELEID=22225;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117530899G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:E92X|OMIM_Allelic_Variant:602421.0082|CFTR-France:c.274G>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908751 7 117530917 53600 C T . . AF_EXAC=0.00001;ALLELEID=68268;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117530917C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q98X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508461 7 117530918 53606 A G . . AF_EXAC=0.00002;ALLELEID=68274;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified;CLNHGVS=NC_000007.14:g.117530918A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000116|CFTR2:Q98R|CFTR-France:c.293A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:149287;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508464 7 117530921 53610 C T . . AF_EXAC=0.00002;ALLELEID=68278;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117530921C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:P99L|CFTR-France:c.296C>T;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508467 7 117530930 554293 T G . . AF_EXAC=0.00001;ALLELEID=544444;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117530930T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L102R;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508490 7 117530933 53653 GA G . . ALLELEID=68321;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117530935del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:442delA|CFTR2:271;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508499 7 117530936 48684 GA G . . ALLELEID=57846;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117530938del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:182|Invitae:4871581|Cystic_Fibrosis_Mutation_Database:79|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840754|CFTR2:444delA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908801 7 117530950 53696 TAT G . . ALLELEID=68364;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117530950_117530952delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=CFTR-France:c.325_327delinsG|CFTR2:457TAT->G;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908798 7 117530953 7108 G C . . AF_EXAC=0.00002;ALLELEID=22147;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN236562|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117530953G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic/Likely_pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:D110H|OMIM_Allelic_Variant:602421.0004|PharmGKB:1449191407PA165950341|UniProtKB_(protein):P13569#VAR_000119|CFTR-France:c.328G>C;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113993958 7 117530955 53714 C A . . ALLELEID=68382;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN236562|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117530955C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449191401PA165950341|CFTR-France:c.330C>A;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508537 7 117530971 53754 G A . . ALLELEID=68422;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117530971G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1797388;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508571 7 117530974 48688 C T . . AF_ESP=0.00008;ALLELEID=57850;CLNDISDB=.|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN517202;CLNDN=CFTR-related_disorders|Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117530974C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.349C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847162|UniProtKB_(protein):P13569#VAR_000121|Illumina_Laboratory_Services,Illumina:757465|CFTR2:R117C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:151978;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77834169 7 117530975 53764 G C . . ALLELEID=68432;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117530975G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000124;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=78655421 7 117530991 38833 T A . . ALLELEID=47438;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117530991T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.366T>A|CFTR2:Y122X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=79660178 7 117531002 53812 G A . . ALLELEID=68479;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117531002G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:G126D;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508609 7 117531033 53887 GC G . . ALLELEID=68554;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117531034del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:541delC|CFTR2:241;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508672 7 117531036 53905 C CCTA . . ALLELEID=68572;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117531038_117531040dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:L138ins|Invitae:2842582;GENEINFO=CFTR:1080;MC=SO:0001821|inframe_insertion;ORIGIN=1;RS=397508686 7 117531041 53909 A G . . ALLELEID=68576;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117531041A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000126|CFTR2:H139R;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=76371115 7 117531048 7146 CA C . . ALLELEID=22185;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117531049del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:602421.0042;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=387906363 7 117531049 7147 AT A . . ALLELEID=22186;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117531054del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2318734|OMIM_Allelic_Variant:602421.0043;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=387906364 7 117531066 53948 CA C . . ALLELEID=68615;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117531067del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:574delA|CFTR-France:c.442delA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908770 7 117531093 487384 GTTTAGTTTGATTTA G . . ALLELEID=480435;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117531095_117531108del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:602del14;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=1554379887 7 117531106 53965 T G . . ALLELEID=68632;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117531106T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Y161D;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508729 7 117534280 53976 T C . . ALLELEID=68643;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117534280T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L165S|CFTR-France:c.494T>C;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508736 7 117534315 53991 AT A . . ALLELEID=68658;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117534317del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:663delT|Invitae:1589594;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908771 7 117534318 48692 G A . . AF_EXAC=0.00002;ALLELEID=57854;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN236562|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117534318G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000130|CFTR-France:c.532G>A|CFTR2:G178R|PharmGKB:1183960805PA165950341|PharmGKB_Clinical_Annotation:1183960805|PharmGKB:1183960805;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80282562 7 117534326 53996 TGTTA T . . ALLELEID=68663;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117534329_117534332del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:675del4|CFTR2:215|CFTR-France:c.543_546delTAGT;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508750 7 117534357 495953 T G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=487243;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117534357T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2028641;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141482808 7 117534361 54005 A G . . ALLELEID=68672;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117534361A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508758 7 117534363 54006 G A . . ALLELEID=68673;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN236562;CLNDN=Cystic_fibrosis|ivacaftor_response_-_Efficacy;CLNHGVS=NC_000007.14:g.117534363G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic/Likely_pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449191424PA165950341|UniProtKB_(protein):P13569#VAR_000132;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508759 7 117534363 54007 G T . . ALLELEID=68674;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117534363G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.577G>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:122348|CFTR2:E193X|HGMD:CM941970|CFTR2:231;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508759 7 117534368 54010 A G . . AF_EXAC=0.00002;ALLELEID=68677;CLNDISDB=.|Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Obstructive_azoospermia|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117534368A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:711+3A->G|CFTR-France:c.579+3A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1730014;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397508761 7 117534370 54012 G A . . ALLELEID=68679;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117534370G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.579+5G>A|CFTR2:711+5G->A;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=78440224 7 117535246 837464 A G . . AF_EXAC=0.00002;ALLELEID=851127;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117535246A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=193922730 7 117535247 54014 G T . . AF_EXAC=0.00001;ALLELEID=68681;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117535247G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:712-1G->T|CFTR-France:c.580-1G>T;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=121908793 7 117535248 1300164 G A . . ALLELEID=1290327;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117535248G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1 7 117535263 54018 C T . . ALLELEID=68685;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117535263C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:180431|CFTR-France:c.595C>T|CFTR2:H199Y|UniProtKB_(protein):P13569#VAR_000134;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908802 7 117535269 54022 G A . . AF_ESP=0.00015;AF_EXAC=0.00020;AF_TGP=0.00040;ALLELEID=68689;CLNDISDB=.|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Hereditary_pancreatitis|Cystic_fibrosis|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117535269G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132833|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2566418;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138338446 7 117535281 54026 C T . . ALLELEID=68693;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117535281C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000135|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1809074|CFTR-France:c.613C>T|CFTR2:P205S;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908803 7 117535285 7190 T G . . AF_EXAC=0.00022;ALLELEID=22229;CLNDISDB=.|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN236562|MedGen:CN517202;CLNDN=CFTR-related_disorders|Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117535285T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM930102|OMIM_Allelic_Variant:602421.0084|CFTR2:L206W|PharmGKB:1449191430PA165950341|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:149207|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2591893|CFTR-France:c.617T>G|UniProtKB_(protein):P13569#VAR_000136;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908752 7 117535315 54033 G A . . ALLELEID=68700;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117535315G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.647G>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1815577|CFTR2:W216X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508775 7 117535321 54035 T A . . AF_EXAC=0.00003;ALLELEID=68702;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117535321T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508777 7 117535326 54036 C T . . AF_EXAC=0.00001;ALLELEID=68703;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117535326C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.658C>T|CFTR2:Q220X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508778 7 117535348 54040 T G . . AF_EXAC=0.00001;ALLELEID=68707;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117535348T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:143|CFTR-France:c.680T>G|CFTR2:L227R;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508782 7 117535363 54041 T A . . AF_EXAC=0.00001;ALLELEID=68708;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117535363T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:V232D|CFTR-France:c.695T>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2335790|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2856012;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508783 7 117535382 487385 TG T . . ALLELEID=480436;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117535385del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:849delG|Invitae:9924161;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1554380497 7 117535387 7145 TAGGGAGAATGATGATGAAGTAC T . . ALLELEID=22184;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117535391_117535412del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR-France:c.723_743+1del|OMIM_Allelic_Variant:602421.0041|CFTR2:852del22;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=121908804 7 117536546 370635 A G . . ALLELEID=357564;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117536546A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1057516646 7 117536563 1300163 GA G . . ALLELEID=1290326;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117536565del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1 7 117536603 48700 GA G . . ALLELEID=57862;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117536607del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:935delA|Cystic_Fibrosis_Mutation_Database:968|HGMD:CD000926|CFTR2:226;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908772 7 117536629 35890 C G . . ALLELEID=44554;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117536629C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.825C>G|CFTR2:Y275X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=193922532 7 117536632 54064 C A . . ALLELEID=68731;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117536632C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:C276X|CFTR2:188;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508799 7 117536648 189095 G GA . . ALLELEID=186744;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117536654dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:977insA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204693 7 117536662 54072 AAACTT A . . ALLELEID=68739;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117536665_117536669del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:237|CFTR2:991del5|CFTR-France:c.861_865delCTTAA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508805 7 117540163 7153 C G . . ALLELEID=22192;CLNDISDB=Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Obstructive_azoospermia|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117540163C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0049|UniProtKB_(protein):P13569#VAR_000144|CFTR2:F311L;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909016 7 117540175 7163 CT C . . ALLELEID=22202;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000007.14:g.117540178del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:602421.0059|CFTR-France:c.948delT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:190516|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832962|Cystic_Fibrosis_Mutation_Database:172|HGMD:CD920843|CFTR2:1078delT|Invitae:807023;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=75528968 7 117540214 54097 CA C . . ALLELEID=68764;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117540217del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:1119delA|CFTR2:280;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508824 7 117540218 48708 G T . . ALLELEID=57870;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117540218G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:G330X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=79031340 7 117540231 53160 G T . . ALLELEID=67828;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN235283;CLNDN=Cystic_fibrosis|none_provided;CLNHGVS=NC_000007.14:g.117540231G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2369783|CFTR2:R334L;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508137 7 117540236 53161 A AG . . ALLELEID=67829;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117540236_117540237insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=CFTR2:1138insG|CFTR2:225;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508138 7 117540237 53162 T A . . ALLELEID=67830;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117540237T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847487|UniProtKB_(protein):P13569#VAR_000150|CFTR2:I336K|CFTR-France:c.1007T>A;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508139 7 117540243 7193 C T . . AF_EXAC=0.00004;ALLELEID=22232;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117540243C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:158181|UniProtKB_(protein):P13569#VAR_000151|CFTR2:T338I|OMIM_Allelic_Variant:602421.0087|CFTR-France:c.1013C>T;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77409459 7 117540248 7134 A ATC . . ALLELEID=22173;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117540249TC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=CFTR2:1154insTC|OMIM_Allelic_Variant:602421.0030|Invitae:822706;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=17;RS=387906360 7 117540251 53167 T C . . ALLELEID=67835;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117540251T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S341P;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508144 7 117540258 53170 GC G . . AF_EXAC=0.00003;ALLELEID=67838;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117540259del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR-France:c.1029delC|CFTR2:1161delC|CFTR2:227;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908774 7 117540267 53171 T C . . ALLELEID=67839;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117540267T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000152|CFTR2:L346P;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508146 7 117540270 7182 G A . . ALLELEID=22221;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117540270G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:147613|CFTR-France:c.1040G>A|UniProtKB_(protein):P13569#VAR_000153|CFTR2:R347H|OMIM_Allelic_Variant:602421.0078;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77932196 7 117540276 7172 C T . . AF_EXAC=0.00013;ALLELEID=22211;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117540276C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840198|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:140252|OMIM_Allelic_Variant:602421.0068;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909021 7 117540285 7198 G A . . AF_EXAC=0.00002;ALLELEID=22237;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN236562|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117540285G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0092|CFTR-France:c.1055G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854034|UniProtKB_(protein):P13569#VAR_000156|CFTR2:R352Q|PharmGKB:1449191643PA165950341;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908753 7 117540310 7135 AT A . . ALLELEID=22174;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117540311del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:602421.0031|CFTR2:1213delT|CFTR-France:c.1081delT;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=387906361 7 117540347 53190 G A . . ALLELEID=67858;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117540347G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1116+1G>A|CFTR2:1248+1G->A;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508158 7 117542015 209059 G A . . ALLELEID=205613;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117542015G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1249-1G->A|CFTR2:257;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=797045160 7 117542025 487392 C CA . . ALLELEID=480438;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117542029dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4871778|CFTR2:1259insA|CFTR-France:c.1130dup;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508163 7 117542034 53200 G T . . ALLELEID=67868;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117542034G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508165 7 117542050 487393 A AAT . . ALLELEID=480439;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117542052TA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=CFTR2:180|CFTR2:1288insTA|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854031|Invitae:1641603;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908785 7 117542101 53212 G A . . ALLELEID=67880;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117542101G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1202G>A|CFTR2:W401X(c.1202G>A)|CFTR2:W401X_67880;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508174 7 117542102 53213 G A . . ALLELEID=67881;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117542102G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W401X_67881|CFTR2:W401X(c.1203G>A)|CFTR-France:c.1203G>A;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508175 7 117542109 53214 G A . . ALLELEID=67882;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117542109G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1209+1G>A|CFTR2:1341+1G->A;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508176 7 117548639 53218 A C . . ALLELEID=67886;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified;CLNHGVS=NC_000007.14:g.117548639A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2341503;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397508179 7 117548639 487376 AG A . . ALLELEID=480440;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN235283|MedGen:CN517202;CLNDN=Cystic_fibrosis|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117548642del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851353|CFTR2:1343delG|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2467408;GENEINFO=CFTR:1080|CFTR-AS1:111082987;ORIGIN=1;RS=1235397597 7 117548671 53222 C T . . ALLELEID=67890;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN235283|MedGen:CN517202;CLNDN=Cystic_fibrosis|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117548671C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2499426|CFTR2:199|CFTR-France:c.1240C>T|CFTR2:Q414X;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508183 7 117548727 53225 TTTCTCAC T . . ALLELEID=67893;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117548732_117548738del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:1429del7|Invitae:4871808|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2845060;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508186 7 117548732 554406 C G . . ALLELEID=544156;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117548732C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=367934560 7 117548756 188958 A AAGAT . . ALLELEID=186745;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117548758_117548761dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:1461ins4;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508189 7 117548758 53231 GAT G . . ALLELEID=67899;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117548759AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=CFTR-France:c.1330_1331del|Invitae:4296440;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508190 7 117548769 53233 CA C . . ALLELEID=67901;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified;CLNHGVS=NC_000007.14:g.117548771del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2214121|CFTR2:181|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2339215|CFTR2:1471delA;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508192 7 117548789 634834 T C . . ALLELEID=622701;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117548789T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L453S;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1562895128 7 117548795 209061 CGG C . . ALLELEID=205615;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117548796_117548797del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:262|CFTR2:1497delGG;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797045161 7 117548798 35821 T C . . AF_EXAC=0.00024;AF_TGP=0.00060;ALLELEID=44485;CLNDISDB=.|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117548798T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2254512|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846757|CFTR2:V456A|CFTR-France:c.1367T>C|Illumina_Laboratory_Services,Illumina:455764;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922500 7 117548802 53237 TG T . . ALLELEID=67905;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117548804del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:1504delG;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508196 7 117559462 53243 A G . . AF_EXAC=0.00001;ALLELEID=67911;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559462A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:250|CFTR2:1525-2A->G;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397508201 7 117559463 53242 G A . . AF_EXAC=0.00005;ALLELEID=67910;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117559463G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1525-1G->A|CFTR-France:c.1393-1G>A;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397508200 7 117559468 53244 C A . . ALLELEID=67912;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559468C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1397C>A|CFTR2:S466X_67912|CFTR2:S466X(C>A);GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908805 7 117559468 35822 C G . . ALLELEID=44486;CLNDISDB=Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Obstructive_azoospermia|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117559468C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1397C>G|CFTR2:S466X_44486|CFTR2:S466X(C>G)|CFTR2:S466X,R1070Q;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908805;CLNDISDBINCL=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDNINCL=Cystic_fibrosis;CLNSIGINCL=634835:Pathogenic 7 117559471 35823 T C . . AF_ESP=0.00023;AF_EXAC=0.00001;ALLELEID=44487;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117559471T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:905625|CFTR2:L467P;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139573311 7 117559486 53251 TG T . . ALLELEID=67919;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117559489del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:147|CFTR-France:c.1418delG|Invitae:1491877|CFTR2:1548delG;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508205 7 117559491 634836 G A . . ALLELEID=622702;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559491G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:E474K;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001583|missense_variant;ORIGIN=1;RS=756206533 7 117559537 53259 C A . . ALLELEID=67927;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117559537C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1466C>A|CFTR2:S489X;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508211 7 117559546 7155 C T . . ALLELEID=22194;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided;CLNHGVS=NC_000007.14:g.117559546C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S492F|OMIM_Allelic_Variant:602421.0051|UniProtKB_(protein):P13569#VAR_000166|CFTR-France:c.1475C>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2553978;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909017 7 117559547 7219 TCA T . . ALLELEID=22258;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559548_117559549del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:228|CFTR2:1609delCA|OMIM_Allelic_Variant:602421.0115|CFTR-France:c.1477_1478delCA|Invitae:4871842;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908775 7 117559548 7107 C T . . AF_EXAC=0.00002;ALLELEID=22146;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117559548C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1477C>T|Illumina_Laboratory_Services,Illumina:1344001|CFTR2:Q493X|OMIM_Allelic_Variant:602421.0003|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:164525;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=77101217 7 117559558 53265 G A . . ALLELEID=67933;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559558G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W496X;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508216 7 117559576 53272 T C . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=67940;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559576T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:I502T;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508222 7 117559609 53280 A G . . ALLELEID=67948;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559609A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000173|CFTR2:D513G|CFTR-France:c.1538A>G;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508225 7 117559612 7140 AAT A . . ALLELEID=22179;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117559614TA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Cystic_Fibrosis_Mutation_Database:247|Invitae:611479|OMIM_Allelic_Variant:602421.0035|CFTR2:1677delTA|CFTR-France:c.1545_1546delTA;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908776 7 117559629 7150 G T . . ALLELEID=22189;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117559629G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0046|UniProtKB_(protein):P13569#VAR_000174|CFTR-France:c.1558G>T|CFTR2:V520F;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77646904 7 117559643 7151 C A . . ALLELEID=22190;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559643C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:248|OMIM_Allelic_Variant:602421.0047|CFTR2:C524X;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908754 7 117559644 53282 C T . . ALLELEID=67950;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559644C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q525X|CFTR2:137;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508227 7 117559656 53285 G A . . ALLELEID=67953;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117559656G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1716+1G->A;GENEINFO=CFTR:1080|CFTR-AS1:111082987;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508230 7 117587731 35828 G A . . ALLELEID=44492;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117587731G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1585-8G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2822958|CFTR2:1717-8G->A;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001627|intron_variant;ORIGIN=1;RS=193922503 7 117587799 38733 A C . . AF_EXAC=0.00001;ALLELEID=47338;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN236562;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|ivacaftor_response_-_Efficacy;CLNHGVS=NC_000007.14:g.117587799A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S549R(A>C)|PharmGKB:1183960766|PharmGKB_Clinical_Annotation:1183960766|PharmGKB:1183960766PA165950341|CFTR2:S549R_47338|Cystic_Fibrosis_Mutation_Database:261|UniProtKB_(protein):P13569#VAR_000178|CFTR-France:c.1645A>C;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908757 7 117587800 7116 G A . . AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=22155;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN236562|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117587800G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854030|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2396431|PharmGKB:1183960318PA165950341|PharmGKB:1183960318|Cystic_Fibrosis_Mutation_Database:262|PharmGKB_Clinical_Annotation:1183960318|OMIM_Allelic_Variant:602421.0010|CFTR-France:c.1646G>A|CFTR2:S549N|UniProtKB_(protein):P13569#VAR_000176;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908755 7 117587801 487375 T A . . ALLELEID=480441;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117587801T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S549R(T>A);GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909005 7 117587801 40190 T G . . ALLELEID=22157;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN236562|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117587801T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000178|CFTR-France:c.1647T>G|PharmGKB:1183960775PA165950341|PharmGKB:1183960775|PharmGKB_Clinical_Annotation:1183960775|OMIM_Allelic_Variant:602421.0012|CFTR2:S549R(T>G)|CFTR2:S549R_22157;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909005 7 117587802 53312 G T . . ALLELEID=67980;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117587802G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:256|CFTR2:G550X;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508247 7 117587803 53319 GA G . . ALLELEID=67987;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117587804del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR-France:c.1650delA|CFTR2:193|CFTR2:1782delA;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508251 7 117587805 7142 G A . . ALLELEID=22181;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN236562|MedGen:CN517202;CLNDN=Cystic_fibrosis|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117587805G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic/Likely_pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183960780|UniProtKB_(protein):P13569#VAR_000180|PharmGKB:1183960780PA165950341|CFTR2:168|OMIM_Allelic_Variant:602421.0037|CFTR2:G551S|PharmGKB_Clinical_Annotation:1183960780;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909013 7 117587808 7201 C T . . ALLELEID=22240;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117587808C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q552X|OMIM_Allelic_Variant:602421.0096;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001587|nonsense;ORIGIN=1;RS=76554633 7 117587823 53326 TC T . . ALLELEID=67994;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117587824del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR-France:c.1670delC|CFTR2:1802delC;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508257 7 117587827 35829 T C . . ALLELEID=44493;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN235283;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|none_provided;CLNHGVS=NC_000007.14:g.117587827T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L558S|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2380704|CFTR-France:c.1673T>C|UniProtKB_(protein):P13569#VAR_000182;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922504 7 117587829 7123 G A . . AF_EXAC=0.00002;ALLELEID=22162;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117587829G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829484|UniProtKB_(protein):P13569#VAR_000183|CFTR2:A559T|CFTR-France:c.1675G>A|OMIM_Allelic_Variant:602421.0015;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=75549581 7 117587833 7156 G A . . ALLELEID=22195;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117587833G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0052|UniProtKB_(protein):P13569#VAR_000184|CFTR-France:c.1679G>A|CFTR2:R560K;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80055610 7 117587834 286869 G A . . ALLELEID=271106;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117587834G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1811+1G->A;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508263 7 117587834 53335 G C . . ALLELEID=68003;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117587834G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1679+1G>C|CFTR2:189|CFTR2:1811+1G->C;GENEINFO=CFTR:1080|LOC111674475:111674475;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508263 7 117589467 53338 A G . . ALLELEID=68006;CLNDISDB=.|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117589467A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1811+1.6kbA->G|CFTR2:1811+1634A->G|CFTR-France:c.1680-886A>G;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397508266 7 117589476 53331 G T . . ALLELEID=67999;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117589476G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1811+1643G->T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844839;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397508261 7 117590352 48681 G A . . AF_EXAC=0.00001;ALLELEID=57843;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117590352G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cystic_Fibrosis_Mutation_Database:284|CFTR-France:c.1680-1G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847519|CFTR2:1812-1G->A;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=121908794 7 117590353 53339 A C . . AF_EXAC=0.00001;ALLELEID=68007;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117590353A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:R560S;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508267 7 117590355 7240 C A . . ALLELEID=22279;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117590355C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:164|CFTR-France:c.1682C>A|OMIM_Allelic_Variant:602421.0136|CFTR2:A561E|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2845058;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909047 7 117590360 7114 T A . . ALLELEID=22153;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117590360T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0017|CFTR2:Y563N|UniProtKB_(protein):P13569#VAR_000189|CFTR-France:c.1687T>A;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909006 7 117590360 53342 T G . . ALLELEID=68010;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117590360T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Y563D;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909006 7 117590362 35831 CA C . . ALLELEID=44495;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117590365del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:211|CFTR2:1824delA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=193922505 7 117590373 53349 AT A . . ALLELEID=68017;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117590376del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:1833delT|CFTR-France:c.1703delT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:168345;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508274 7 117590378 53352 T G . . AF_EXAC=0.00010;ALLELEID=68020;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117590378T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1705T>G|CFTR2:Y569D|CFTR2:161|UniProtKB_(protein):P13569#VAR_000191;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508276 7 117590394 7119 C A . . ALLELEID=22158;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117590394C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0018|UniProtKB_(protein):P13569#VAR_000195|CFTR2:P574H|CFTR-France:c.1721C>A;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908758 7 117590426 53374 G T . . AF_EXAC=0.00002;ALLELEID=68042;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117590426G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1753G>T|CFTR2:E585X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508296 7 117590440 53376 G C . . ALLELEID=68044;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117590440G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:208|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2214361|CFTR2:1898+1G->C|CFTR-France:c.1766+1G>C;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=121908748 7 117590440 53377 G T . . ALLELEID=68045;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117590440G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1898+1G->T;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=121908748 7 117590442 53379 A G . . ALLELEID=68047;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117590442A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1898+3A->G|CFTR-France:c.1766+3A>G;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397508298 7 117590444 48685 G T . . AF_EXAC=0.00002;ALLELEID=57847;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117590444G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:1898+5G->T|CFTR-France:c.1766+5G>T;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=121908796 7 117591958 53388 CAAAACTA C . . ALLELEID=68056;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117591959_117591965del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:255|CFTR2:1924del7|CFTR-France:c.1792_1798del|Cystic_Fibrosis_Mutation_Database:317;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508303 7 117591968 53391 A T . . AF_EXAC=0.00001;ALLELEID=68059;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117591968A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000198|CFTR-France:c.1801A>T;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508306 7 117591983 53396 AAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC A . . ALLELEID=68064;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117591987_117592070del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:602421.0044|CFTR-France:c.1820_1903del;GENEINFO=CFTR:1080;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=121908777 7 117591993 53398 A G . . ALLELEID=68066;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117591993A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:167430|CFTR2:H609R|CFTR-France:c.1826A>G;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508310 7 117592004 53401 G A . . AF_TGP=0.00020;ALLELEID=68069;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592004G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:A613T|UniProtKB_(protein):P13569#VAR_000200;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201978662 7 117592049 53408 G A . . AF_EXAC=0.00001;ALLELEID=68076;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592049G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000207|CFTR2:G628R_A;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508316 7 117592049 53409 G C . . ALLELEID=68077;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117592049G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000207|CFTR2:G628R_C;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508316 7 117592077 35834 AG A . . ALLELEID=44498;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592078del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1554389296 7 117592090 38735 CTCAAAACT A . . ALLELEID=47340;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117592090_117592098delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=CFTR2:175|Cystic_Fibrosis_Mutation_Database:328|CFTR2:2055del9->A;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908779 7 117592109 634829 GA G . . ALLELEID=622703;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592110del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:2075delA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1481564133 7 117592133 53416 G T . . ALLELEID=68084;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592133G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1966G>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508323 7 117592140 53417 GAAATTCAATCCT AGAAA . . ALLELEID=68085;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117592140_117592152delinsAGAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=CFTR2:2105-2117del13insAGAAA|CFTR2:176;GENEINFO=CFTR:1080;ORIGIN=1;RS=121908780 7 117592150 53421 CCTAA C . . ALLELEID=68089;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117592153_117592156del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:2118del4|CFTR2:194|CFTR-France:c.1986_1989delAACT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2317962;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508325 7 117592157 53422 G T . . ALLELEID=68090;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117592157G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.1990G>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508327 7 117592177 35836 AT A . . ALLELEID=44500;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117592179del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:2143delT|CFTR-France:c.2012delT|Cystic_Fibrosis_Mutation_Database:335;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908812 7 117592184 53427 G T . . AF_EXAC=0.00001;ALLELEID=68095;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592184G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2017G>T|CFTR2:238|CFTR2:G673X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508331 7 117592212 35838 C CA . . ALLELEID=44502;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN235283|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117592219dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:100604|CFTR2:2184insA|CFTR-France:c.2052dup;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=25;RS=121908746 7 117592218 35837 AA G . . ALLELEID=44501;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117592218_117592219delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=CFTR2:2183AA->G|CFTR-France:c.2051_2052delinsG;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908799 7 117592219 487397 A AC . . ALLELEID=480442;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592220dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:274|CFTR2:2185insC;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797045162 7 117592220 53434 C T . . ALLELEID=68102;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592220C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q685X|CFTR2:277;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508336 7 117592292 53440 C T . . AF_EXAC=0.00002;ALLELEID=68108;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117592292C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:R709X|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850731|CFTR-France:c.2125C>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2207754;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908760 7 117592295 7203 A T . . ALLELEID=22242;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117592295A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0098|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844119|CFTR2:K710X|CFTR-France:c.2128A>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=75115087 7 117592310 53442 C T . . ALLELEID=68110;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592310C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q715X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508343 7 117592325 53445 C T . . AF_EXAC=0.00001;ALLELEID=68113;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592325C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q720X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508346 7 117592340 7185 G GA . . ALLELEID=22224;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117592342dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:2307insA|Cystic_Fibrosis_Mutation_Database:348|Invitae:1199673|OMIM_Allelic_Variant:602421.0081|CFTR-France:c.2175dup;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=746418935 7 117592362 53451 T G . . AF_EXAC=0.00001;ALLELEID=68119;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117592362T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2195T>G|CFTR2:L732X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508350 7 117592381 53455 AG A . . AF_EXAC=0.00001;ALLELEID=68123;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117592382del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:2347delG|CFTR-France:c.2215delG;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508353 7 117592400 53457 G T . . ALLELEID=68125;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592400G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2233G>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508354 7 117592405 487377 GGCGATACT G . . ALLELEID=480444;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592408_117592415del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:2372del8|CFTR-France:c.2241_2248del;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508355 7 117592457 53471 C T . . AF_EXAC=0.00001;ALLELEID=68139;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117592457C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840664|CFTR-France:c.2290C>T|CFTR2:R764X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908810 7 117592520 53480 C T . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=68148;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117592520C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2353C>T|CFTR2:R785X|CFTR2:174;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=374946172 7 117592541 53483 C T . . ALLELEID=68151;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117592541C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:R792X|CFTR-France:c.2374C>T|CFTR2:186;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=145449046 7 117592583 209046 G GAT . . ALLELEID=205617;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592584AT[5];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=CFTR2:2556insAT|CFTR2:212|OMIM_Allelic_Variant:602421.0019|Invitae:4872035;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=387906359 7 117592618 66102 CT C . . ALLELEID=77003;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117592620del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:2585delT;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397515498 7 117592628 455767 AGT A . . ALLELEID=456095;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117592630_117592631del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:2594delGT|Invitae:2478654|CFTR2:172;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797045156 7 117592631 53492 G T . . ALLELEID=68160;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117592631G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:E822X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508378 7 117592658 7175 G A . . AF_ESP=0.00015;ALLELEID=22214;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN235283|MedGen:CN517202;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117592658G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0071|CFTR-France:c.2490+1G>A|CFTR2:2622+1G->A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:206093;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=141158996 7 117594930 53501 G T . . AF_EXAC=0.00003;ALLELEID=68169;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Hereditary_pancreatitis|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117594930G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:E831X|CFTR-France:c.2491G>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508387 7 117594935 53503 C CT . . ALLELEID=68171;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117594941dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR-France:c.2502dup;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508389 7 117594976 53508 G A . . ALLELEID=68176;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117594976G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W846X_68176|CFTR-France:c.2537G>A|CFTR2:W846X(c.2537G>A);GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508393 7 117594977 7127 G A . . ALLELEID=22166;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117594977G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2538G>A|OMIM_Allelic_Variant:602421.0026|CFTR2:W846X_22166|CFTR2:W846X(c.2538G>A);GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=267606722 7 117594986 53509 C A . . ALLELEID=68177;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117594986C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Y849X|CFTR2:206|CFTR-France:c.2547C>A;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508394 7 117594990 7141 C T . . AF_EXAC=0.00001;ALLELEID=22180;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117594990C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:R851X|OMIM_Allelic_Variant:602421.0036|CFTR-France:c.2551C>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121909012 7 117595017 53515 AT A . . ALLELEID=68183;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117595022del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR-France:c.2583delT|CFTR2:2711delT;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508399 7 117595022 53516 TGTGCTAATTTG T . . ALLELEID=68184;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117595028_117595038del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR-France:c.2589_2599delAATTTGGTGCT|CFTR2:2721del11|CFTR2:254;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508400 7 117595039 487396 T TA . . ALLELEID=480446;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117595040dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4872061|CFTR2:269|CFTR-France:c.2601dup|CFTR2:2732insA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508405 7 117602800 53529 A G . . AF_ESP=0.00092;AF_EXAC=0.00119;AF_TGP=0.00020;ALLELEID=68197;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117602800A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2627729|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132347|CFTR-France:c.2620-26A>G;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201716473 7 117602851 53535 G A . . ALLELEID=68203;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117602851G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W882X|CFTR-France:c.2645G>A;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508413 7 117602865 53536 T TA . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=68204;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117602865_117602866insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=HGMD:CI983616|CFTR-France:c.2657+2_2657+3insA;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397508414 7 117603531 209045 G C . . ALLELEID=205619;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603531G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2658-1G>C|CFTR2:209|CFTR2:2790-1G->C;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397508416 7 117603542 7204 C T . . ALLELEID=22243;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117603542C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q890X|CFTR-France:c.2668C>T|OMIM_Allelic_Variant:602421.0099;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=79633941 7 117603609 53550 C A . . ALLELEID=68218;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603609C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S912X|CFTR2:187|CFTR-France:c.2735C>A;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121909034 7 117603609 7205 C T . . AF_EXAC=0.00089;AF_TGP=0.00060;ALLELEID=22244;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117603609C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2625958|OMIM_Allelic_Variant:602421.0135|UniProtKB_(protein):P13569#VAR_000222|OMIM_Allelic_Variant:602421.0100|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:147608|Illumina_Laboratory_Services,Illumina:665563;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909034;CLNDISDBINCL=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDNINCL=Cystic_fibrosis;CLNSIGINCL=7239:Pathogenic 7 117603611 7149 T TG . . ALLELEID=22188;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603611_117603612insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=CFTR2:195|CFTR2:2869insG|CFTR-France:c.2737_2738insG|OMIM_Allelic_Variant:602421.0045;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908788 7 117603613 53552 T A . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=68220;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117603613T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Y913X|CFTR2:216|CFTR-France:c.2739T>A;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=149790377 7 117603635 53563 G GGA . . ALLELEID=68231;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603637_117603638dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4568293|CFTR2:2896insAG|CFTR-France:c.2763_2764dup|CFTR2:196;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508431 7 117603644 53565 G A . . AF_EXAC=0.00007;ALLELEID=68233;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117603644G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:171672;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201759207 7 117603654 53568 T C . . ALLELEID=68236;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603654T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2780T>C|CFTR2:L927P;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508435 7 117603683 35849 C CT . . ALLELEID=44513;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117603684dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4872095|CFTR-France:c.2810dup|CFTR2:2942insT|CFTR2:249;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=193922510 7 117603695 555883 CT C . . AF_EXAC=0.00001;ALLELEID=544191;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603696del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=762844777 7 117603698 53574 AT A . . ALLELEID=68242;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603699del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:252|CFTR2:2957delT;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508441 7 117603708 53575 C T . . AF_EXAC=0.00010;ALLELEID=68243;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN236562|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117603708C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S945L|PharmGKB:1449191682PA165950341|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831453|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2414081|CFTR-France:c.2834C>T;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508442 7 117603729 53579 T C . . AF_ESP=0.00031;AF_EXAC=0.00034;ALLELEID=68247;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117603729T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:166180|Illumina_Laboratory_Services,Illumina:677391;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142773283 7 117603732 53581 TACATTCTGTTCTTCAAGCACCTATGTCAACCC T . . ALLELEID=68249;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603733_117603764del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:240|CFTR2:2991del32;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508445 7 117603748 53583 AG A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=68251;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117603749del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:3007delG|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854033|CFTR-France:c.2875delG|Illumina_Laboratory_Services,Illumina:685054;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508447 7 117603769 53587 CA C . . ALLELEID=68255;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603770del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:278|CFTR2:3028delA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508451 7 117603782 53590 G C . . ALLELEID=68258;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117603782G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2908G>C|CFTR2:G970R;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508453 7 117606674 35854 G A . . AF_EXAC=0.00001;ALLELEID=44518;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117606674G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2273420|CFTR2:G970D;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=386134230 7 117606695 53601 C T . . AF_ESP=0.00008;ALLELEID=68269;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN235283|MedGen:CN236562;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|none_provided|ivacaftor_response_-_Efficacy;CLNHGVS=NC_000007.14:g.117606695C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:167427|CFTR-France:c.2930C>T|PharmGKB:1449191690PA165950341;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141033578 7 117606701 53603 A T . . ALLELEID=68271;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117606701A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.2936A>T|CFTR2:D979V;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508462 7 117606753 35857 G A . . ALLELEID=44521;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117606753G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS941443|CFTR2:3120G->A|CFTR-France:c.2988G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852174;GENEINFO=CFTR:1080;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=121908797 7 117609539 51033 TATGTATTTGGTGTAATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAAGCATGAGAAAATATGCTCCGAAAGGTTAGATAGCTTGCCTAAATGACAAGCTTGTATTTCAAGCAGAACTTTCTGAATCAAAAGACTCCAAGACGAATGCCCAGCTTTCAAAAACTGTCTAACCAAAATAAATCCTAAGATTCACCTTCATACTAAAATTATTTAAAAATAGTTTATTTTAAATTAATATTCACTTAAAATGTATTTATCATGCAATACTTTAAAGTGTCTGGGAAATGAAAATATCCAAAGATCAAAGAACACCATGTTTTCAAACTTCAAAAATGTTATCAGTGACCTAAACAATTTTTAAAATTTTCATAGAGCCTATGAAAAATGTACTTGCAAATGGCTACTTTCTGACTAGGAATAGAATGGGGAGAGTATTTAGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAACACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAAACATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCACTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAAAATAAAAAAAAGTTTGAGGTGTTTAAAGTATGCAAAAAAAAAAAAAGAAATAAATCACTGACACACTTTGTCCACTTTGCAATGTGAAAATGTTTACTCACCAACATGTTTTCTTTGATCTTACAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGAAGGTATGACAGTGAATGTGCGATACTCATCTTGTAAAAAAGCTATAAGAGCTATTTGAGATTCTTTATTGTTAATCTACTTAAAAAAAATTCTGCTTTTAAACTTTTACATCATATAACAATAATTTTTTTCTACATGCATGTGTATATAAAAGGAAACTATATTACAAAGTACACATGGATTTTTTTTCTTAATTAATGACCATGTGACTTCATTTTGGTTTTAAAATAGGTATATAGAATCTTACCACAGTTGGTGTACAGGACATTCATTTATAATAAACTTATATCAGTCAAATTAAACAAGGATAGTGCTGCTATTACTAAAGGTTTCTCTGGGTTCCCAAATGATACTTGACCAAATTTGTCCCTTTGGCTTGTTGTCTTCAGACACCCTTTCTTCATGTGTTGGAGCTGCCATTTCGTGTGCCCCCAAACTCTACTTGAGCTGTTAGGGAATCACATTTTGCAGTGACAGCCTTAGTGTGGGTGCATTTTCAGGCAATACTTTTTCAGTATATTTCTGCTTTGTAGATTATTAGCTAAATCAAGTCACATAAACTTCCTTAATTTAGATACTTGAAAAAATTGTCTTAAAAGAAAATTTTTTTAGTAAGAATTAATTTAGAATTAGCCAGAAAACTCCCAGTGGTAGCCAAGAAAGAGGAATAAATATTGGTGGTAATTTTTTAAGTTCCCATCTCTGGTAGCCAAGTAAAAAAAGAGGGTAACTCATTAATAAAATAACAAATCATATCTATTCAAAGAATGGCACCAGTGTGAAAAAAAGCTTTTTAACCAATGACATTTGTGATATGATTATTCTAATTTAGTCTTTTTCAGGTACAAGATATTATGAAATTACATTTTGTGTTTATGTTATTTGCAATGTTTTCTATGGAAATATTTCACAGGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATAC T . . ALLELEID=65701;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117609542_117612056del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:3121-977_3499+248del2515|CFTR2:213|CFTR-France:c.2989-977_3367+248del;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 7 117610516 53616 CAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA C . . ALLELEID=68284;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117610519_117610669del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:247|CFTR2:CFTRdele19;GENEINFO=CFTR:1080|LOC111674472:111674472;ORIGIN=1;RS=1562914028 7 117610517 53614 A G . . ALLELEID=68282;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117610517A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:253|CFTR2:3121-2A->G|CFTR-France:c.2989-2A>G;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=193922515 7 117610518 53613 G A . . ALLELEID=68281;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117610518G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3121-1G->A|CFTR-France:c.2989-1G>A;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397508470 7 117610529 53623 TTG T . . ALLELEID=68291;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117610530TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=CFTR2:3132delTG|CFTR2:197;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508477 7 117610538 634830 GAGCTATAGC G . . ALLELEID=622704;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117610541_117610549del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:3143del9;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=1562914072 7 117610547 53627 C A . . AF_EXAC=0.00001;ALLELEID=68295;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified;CLNHGVS=NC_000007.14:g.117610547C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:A1006E|UniProtKB_(protein):P13569#VAR_000229;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508480 7 117610566 53635 A AC . . ALLELEID=68303;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117610569dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:3171insC;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908781 7 117610566 53636 AC A . . ALLELEID=68304;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117610569del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:268|Invitae:4872131|CFTR2:3171delC;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908781 7 117610571 53638 A G . . AF_ESP=0.00023;AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=68306;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Inborn_genetic_diseases|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117610571A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1836635|Illumina_Laboratory_Services,Illumina:899054|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837516|HGMD:CM983570;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149279509 7 117610592 38480 CAGTGAT C . . ALLELEID=46824;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117610597_117610602del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:165183|Invitae:858078|CFTR-France:c.3067_3072del|HGMD:CD941637;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=121908767 7 117610633 53650 C T . . ALLELEID=68318;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117610633C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508496 7 117610637 53652 C A . . ALLELEID=68320;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified;CLNHGVS=NC_000007.14:g.117610637C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2251945|CFTR2:T1036N;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508498 7 117610654 53654 C T . . AF_EXAC=0.00001;ALLELEID=68322;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117610654C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3124C>T|CFTR2:Q1042X;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508500 7 117610668 53660 AGG A . . ALLELEID=68328;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117610669_117610670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:3271delGG;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397508505 7 117611555 35864 A G . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=44528;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117611555A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3272-26A->G|CFTR-France:c.3140-26A>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:171098;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001627|intron_variant;ORIGIN=1;RS=76151804 7 117611595 35865 T G . . AF_ESP=0.00100;AF_EXAC=0.00066;ALLELEID=44529;CLNDISDB=.|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN236562|MedGen:CN517202;CLNDN=CFTR-related_disorders|Hereditary_pancreatitis|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|not_specified|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117611595T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:20_February_2019|CFTR-France:c.3154T>G|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2761276|PharmGKB:1449191708PA165950341|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:160570|UniProtKB_(protein):P13569#VAR_000232;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=17;RS=150212784 7 117611601 53667 C G . . ALLELEID=68335;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117611601C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:H1054D|CFTR2:163|CFTR-France:c.3160C>G;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508510 7 117611620 53671 A C . . ALLELEID=68339;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN236562;CLNDN=Cystic_fibrosis|ivacaftor_response_-_Efficacy;CLNHGVS=NC_000007.14:g.117611620A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449191722PA165950341;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508513 7 117611622 53672 G C . . AF_ESP=0.00008;AF_TGP=0.00020;ALLELEID=68340;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117611622G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:G1061R|CFTR2:165|HGMD:CM930126|UniProtKB_(protein):P13569#VAR_000233|CFTR-France:c.3181G>C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:198195;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142394380 7 117611635 7208 T C . . ALLELEID=22247;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117611635T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_000234|CFTR-France:c.3194T>C|OMIM_Allelic_Variant:602421.0103|CFTR2:L1065P;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909036 7 117611637 7162 C T . . AF_EXAC=0.00001;ALLELEID=22201;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117611637C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3196C>T|OMIM_Allelic_Variant:602421.0058|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2232919|UniProtKB_(protein):P13569#VAR_000236|CFTR2:R1066C;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=78194216 7 117611638 7158 G A . . AF_EXAC=0.00006;ALLELEID=22197;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117611638G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3197G>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148654|UniProtKB_(protein):P13569#VAR_000237|OMIM_Allelic_Variant:602421.0054|CFTR2:R1066H;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909019 7 117611640 7159 G A . . ALLELEID=22198;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN236562|MedGen:CN517202;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|not_specified|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117611640G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM920176|OMIM_Allelic_Variant:602421.0055|UniProtKB_(protein):P13569#VAR_000239|PharmGKB:1449191734PA165950341;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909020 7 117611649 53685 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=68353;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN236562|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|not_specified|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117611649C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_011564|Illumina_Laboratory_Services,Illumina:635269|PharmGKB:1449191740PA165950341|CFTR-France:c.3208C>T;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202179988 7 117611650 35866 G A . . AF_ESP=0.00008;AF_EXAC=0.00081;AF_TGP=0.00120;ALLELEID=44530;CLNDISDB=.|Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN236562|MedGen:CN517202;CLNDN=CFTR-related_disorders|Obstructive_azoospermia|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|not_specified|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117611650G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3209G>A|CFTR2:S466X,R1070Q|PharmGKB:1449191746PA165950341|UniProtKB_(protein):P13569#VAR_000241|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:209716;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=78769542;CLNDISDBINCL=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDNINCL=Cystic_fibrosis;CLNSIGINCL=634835:Pathogenic 7 117611656 487379 C CT . . ALLELEID=480448;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117611658dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:3349insT;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=768963919 7 117611663 53688 T A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=68356;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN236562|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117611663T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2508424|PharmGKB:1449191752PA165950341;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=186045772 7 117611671 53690 T C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=68358;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000007.14:g.117611671T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L1077P|CFTR-France:c.3230T>C|UniProtKB_(protein):P13569#VAR_000245;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139304906 7 117611707 7194 G A . . AF_EXAC=0.00001;ALLELEID=22233;CLNDISDB=.|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=CFTR-related_disorders|Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117611707G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840687|OMIM_Allelic_Variant:602421.0088|CFTR2:W1089X|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132835|CFTR-France:c.3266G>A;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=78802634 7 117611717 38728 C A . . AF_EXAC=0.00001;ALLELEID=47333;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117611717C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Y1092X(c.3276C>A)|CFTR2:Y1092X_47333|CFTR-France:c.3276C>A;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908761 7 117611717 7211 C G . . ALLELEID=22250;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117611717C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0106|CFTR2:Y1092X_22250|CFTR-France:c.3276C>G|CFTR2:Y1092X(c.3276C>G);GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908761 7 117611733 53707 T C . . ALLELEID=68375;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117611733T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W1098R|CFTR-France:c.3292T>C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851352|UniProtKB_(protein):P13569#VAR_000247;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508531 7 117611734 53708 G A . . ALLELEID=68376;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117611734G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:244|CFTR2:W1098X(c.3293G>A)|CFTR-France:c.3293G>A;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508532 7 117611735 209057 G A . . ALLELEID=205620;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117611735G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:244_1|CFTR-France:c.3294G>A|CFTR2:W1098X(c.3294G>A);GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508533 7 117611735 53709 G C . . AF_EXAC=0.00001;ALLELEID=68377;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117611735G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W1098C_C;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508533 7 117611735 618905 G T . . ALLELEID=610349;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117611735G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W1098C_T;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508533 7 117611743 39516 T A . . AF_EXAC=0.00001;ALLELEID=48115;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117611743T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0137|HGMD:CM930130|CFTR2:M1101K|CFTR-France:c.3302T>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:188586|UniProtKB_(protein):P13569#VAR_000248;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=36210737 7 117611743 53712 T G . . ALLELEID=68380;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117611743T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P13569#VAR_011565|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:135208|CFTR2:M1101R;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=1;RS=36210737 7 117611745 53713 A T . . ALLELEID=68381;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117611745A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:264|CFTR2:R1102X|CFTR-France:c.3304A>T;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508536 7 117611751 53715 G T . . ALLELEID=68383;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117611751G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:E1104X|CFTR-France:c.3310G>T;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508538 7 117611794 53722 C T . . AF_ESP=0.00008;ALLELEID=68390;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117611794C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S1118F;GENEINFO=CFTR:1080|LOC111674472:111674472;MC=SO:0001583|missense_variant;ORIGIN=5;RS=146521846 7 117614611 188783 A G . . ALLELEID=186747;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN169374;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_specified;CLNHGVS=NC_000007.14:g.117614611A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3500-2A->G|CFTR2:235;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=755416052 7 117614627 1300165 A T . . ALLELEID=68397;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117614627A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508549 7 117614680 53741 G A . . ALLELEID=68409;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN235283;CLNDN=Cystic_fibrosis|none_provided;CLNHGVS=NC_000007.14:g.117614680G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2539823|CFTR2:W1145X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508561 7 117614699 35867 G C . . AF_ESP=0.00023;AF_EXAC=0.00026;ALLELEID=44531;CLNDISDB=.|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364,SNOMED_CT:2904007|Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN235283|MedGen:CN236562|MedGen:CN517202;CLNDN=CFTR-related_disorders|Male_infertility|Obstructive_azoospermia|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|none_provided|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117614699G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:62122|Illumina_Laboratory_Services,Illumina:832416|UniProtKB_(protein):P13569#VAR_000251|PharmGKB:1449191758PA165950341|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2671958|CFTR-France:c.3454G>C;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=25;RS=75541969 7 117614713 53750 G A . . ALLELEID=68418;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000007.14:g.117614713G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3600G->A|CFTR-France:c.3468G>A;GENEINFO=CFTR:1080;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139729994 7 117614714 487380 G GT . . ALLELEID=480449;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117614715dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:3600+2insT;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1554392800 7 117614718 487381 G A . . ALLELEID=480450;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117614718G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3600+5G->A;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1554392801 7 117627525 7144 C T . . AF_EXAC=0.00004;ALLELEID=22183;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000007.14:g.117627525C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:R1158X|CFTR-France:c.3472C>T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:182885|OMIM_Allelic_Variant:602421.0039;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=79850223 7 117627528 53756 T C . . AF_EXAC=0.00001;ALLELEID=68424;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117627528T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S1159P;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508572 7 117627529 53757 C T . . ALLELEID=68425;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627529C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3476C>T|CFTR2:S1159F;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508573 7 117627584 7222 G GTCAA . . ALLELEID=22261;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627585_117627588dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:602421.0118|CFTR2:183|CFTR2:3667ins4;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=387906378 7 117627640 48674 C G . . AF_EXAC=0.00002;ALLELEID=57836;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627640C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3587C>G|CFTR2:S1196X|Cystic_Fibrosis_Mutation_Database:502;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908763 7 117627650 1300166 GA G . . ALLELEID=1290328;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627653del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1 7 117627657 53777 GA G . . ALLELEID=68445;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627658del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:3737delA|CFTR-France:c.3605delA|CFTR2:198;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508587 7 117627664 7212 G A . . ALLELEID=22251;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627664G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:W1204X(c.3611G>A)|OMIM_Allelic_Variant:602421.0107|CFTR2:W1204X_22251|CFTR-France:c.3611G>A;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908764 7 117627665 53779 G A . . AF_EXAC=0.00001;ALLELEID=68447;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117627665G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM067771|CFTR2:W1204X(c.3612G>A)|CFTR-France:c.3612G>A|CFTR2:W1204X_68447;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121908765 7 117627711 7124 AC A . . ALLELEID=22163;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117627712del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:602421.0020|CFTR2:3791delC|Cystic_Fibrosis_Mutation_Database:510|CFTR-France:c.3659delC;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908811 7 117627741 35871 AT A . . ALLELEID=44535;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627744del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:3821delT|CFTR2:184;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=77035409 7 117627753 7215 A G . . AF_EXAC=0.00001;ALLELEID=22254;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117627753A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:106|OMIM_Allelic_Variant:602421.0110|UniProtKB_(protein):P13569#VAR_000254|CFTR-France:c.3700A>G|CFTR2:I1234V;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=75389940 7 117627770 53791 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=68459;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627770G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3849G->A;GENEINFO=CFTR:1080;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144781064 7 117627774 7138 A G . . ALLELEID=22177;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117627774A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3849+4A->G|Cystic_Fibrosis_Mutation_Database:519|OMIM_Allelic_Variant:602421.0040|CFTR-France:c.3717+4A>G|CFTR2:281;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=387906362 7 117627775 35875 G A . . AF_EXAC=0.00001;ALLELEID=44539;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117627775G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3849+5G->A;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=193922520 7 117627810 53789 A G . . ALLELEID=68457;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN235283|MedGen:CN517202;CLNDN=CFTR-related_disorders|Cystic_fibrosis|Inborn_genetic_diseases|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117627810A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2566972|CFTR2:3849+40A->G|CFTR-France:c.3717+40A>G;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397508595 7 117642435 53793 T G . . ALLELEID=68461;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117642435T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:285|CFTR2:3850-3T->G;GENEINFO=CFTR:1080;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397508596 7 117642437 7177 G A . . ALLELEID=22216;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117642437G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:3850-1G->A|CFTR-France:c.3718-1G>A|OMIM_Allelic_Variant:602421.0073|CFTR2:190;GENEINFO=CFTR:1080;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=387906369 7 117642439 53795 T G . . ALLELEID=68463;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117642439T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:V1240G;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508598 7 117642451 53797 G A . . AF_EXAC=0.00002;ALLELEID=68465;CLNDISDB=MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN236562;CLNDN=Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|ivacaftor_response_-_Efficacy;CLNHGVS=NC_000007.14:g.117642451G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183960795|UniProtKB_(protein):P13569#VAR_000256|PharmGKB:1183960795PA165950341|CFTR2:G1244E|CFTR-France:c.3731G>A|PharmGKB_Clinical_Annotation:1183960795;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267606723 7 117642463 7231 CA C . . ALLELEID=22270;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN235283|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|none_provided|not_provided;CLNHGVS=NC_000007.14:g.117642464del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:3876delA|OMIM_Allelic_Variant:602421.0127|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:214523;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908784 7 117642464 209056 AG A . . ALLELEID=205621;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117642467del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:3878delG|CFTR2:243;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797045159 7 117642465 53801 G A . . AF_EXAC=0.00001;ALLELEID=68468;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117642465G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:G1249R|CFTR-France:c.3745G>A;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508602 7 117642472 7217 G A . . AF_EXAC=0.00001;ALLELEID=22256;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN236562|MedGen:CN517202;CLNDN=Cystic_fibrosis|Inborn_genetic_diseases|not_specified|ivacaftor_response_-_Efficacy|not_provided;CLNHGVS=NC_000007.14:g.117642472G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3752G>A|PharmGKB:1183960800|CFTR2:S1251N|OMIM_Allelic_Variant:602421.0112|UniProtKB_(protein):P13569#VAR_000258|PharmGKB:1183960800PA165950341|PharmGKB_Clinical_Annotation:1183960800;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74503330;CLNDISDBINCL=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDNINCL=Cystic_fibrosis;CLNSIGINCL=1300167:Pathogenic 7 117642481 53805 T G . . ALLELEID=68472;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117642481T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:224|CFTR2:L1254X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508604 7 117642483 7192 T C . . ALLELEID=22231;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN236562;CLNDN=Cystic_fibrosis|ivacaftor_response_-_Efficacy;CLNHGVS=NC_000007.14:g.117642483T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic/Likely_pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183960785PA165950341|PharmGKB:1183960785|CFTR2:S1255P|CFTR2:218|PharmGKB_Clinical_Annotation:1183960785|UniProtKB_(protein):P13569#VAR_000259|OMIM_Allelic_Variant:602421.0113;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909041 7 117642484 7125 C A . . ALLELEID=22164;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN235283;CLNDN=Cystic_fibrosis|not_specified|none_provided;CLNHGVS=NC_000007.14:g.117642484C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:S1255X|OMIM_Allelic_Variant:602421.0021|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2388342|CFTR2:200;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=76649725 7 117642487 38726 C CT . . ALLELEID=47331;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117642493dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:653635|CFTR2:3905insT|CFTR-France:c.3773dup;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908789 7 117642526 634832 T A . . ALLELEID=622705;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117642526T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:I1269N;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1562923253 7 117642542 53817 G A . . ALLELEID=68484;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117642542G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3822G>A;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508613 7 117642568 7167 G T . . ALLELEID=22206;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117642568G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:R1283M|UniProtKB_(protein):P13569#VAR_000262|OMIM_Allelic_Variant:602421.0063;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77902683;CLNDISDBINCL=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDNINCL=Cystic_fibrosis;CLNSIGINCL=1300168:Pathogenic 7 117642594 7160 G A . . AF_ESP=0.00008;ALLELEID=22199;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117642594G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602421.0056|CFTR-France:c.3873+1G>A|CFTR2:4005+1G->A;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=143570767 7 117642595 53828 T C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=68495;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117642595T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:4005+2T->C;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=146795445 7 117652845 53838 GTATT G . . ALLELEID=68505;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117652847ATTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=CFTR-France:c.3883_3886delATTT|Invitae:1038185|CFTR2:4010del4|CFTR2:242|OMIM_Allelic_Variant:602421.0089;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=387906373 7 117652850 53839 TA T . . ALLELEID=68506;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117652851del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:214|CFTR2:4015delA|CFTR-France:c.3883delA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508630 7 117652851 53841 A AT . . ALLELEID=68508;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180|MedGen:CN517202;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|not_provided;CLNHGVS=NC_000007.14:g.117652857dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:460788|CFTR-France:c.3889dup|CFTR2:4016insT;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=121908808 7 117652858 53843 C CT . . ALLELEID=68510;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117652859dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:4022insT|CFTR-France:c.3891dup;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508633 7 117652865 487401 A AT . . ALLELEID=480452;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117652868dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:233|CFTR2:4021dupT;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=1554396393 7 117652870 53847 GA G . . ALLELEID=68514;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117652876del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:246|Invitae:2991230|CFTR2:4040delA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508637 7 117652897 53856 G A . . ALLELEID=68523;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117652897G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508645 7 117652905 7180 C T . . ALLELEID=22219;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117652905C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.3937C>T|CFTR2:Q1313X|OMIM_Allelic_Variant:602421.0076;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=121909026 7 117664606 66104 AACTCCTGTGTTTATTTTTAGAATGTCAACTGCTTGAGTGTTTTTAACTCTGTGGTATCTGAACTATCTTCTCTAACTGCAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTGAGTCTTTATAACTTTACTTAAGATCTCATTGCCCTTGTAATTCTTGATAACAATCTCACATGTGATAGTTCCTGCAAATTGCAACAATGTACAAGTTCTTTTCAAAAATATGTATCATACAGCCATCCAGCTTTACTCAAAATAGCTGCACAAGTTTTTCACTTTGATCTGAGCCATGTGGTGAGGTTGAAATATAGTAAATCTAAAATGGCAGCATATTACTAAGTTATGTTTATAAATAGGATATATATACTTTTTGAGCCCTTTATTTGGGGACCAAGTCATACAAAATACTCTACTGTTTAAGATTTTAAAAAAGGTCCCTGTGATTCTTTCAATAACTAAATGTCCCATGGATGTGGTCTGGGACAGGCCTAGTTGTCTTACAGTCTGATTTATGGTATTAATGACAAAGTTGAGAGGCACATTTCATTTTTCTAGCCATGATTTGGGTTCAGGTAGTACCTTTCTCAACCACCTTCTCACTGTTCTTAAAAAAACTGTCACATGGCCAGGCACAGTGGCTTACATCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGGGGATT A . . ALLELEID=77005;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117664610_117666141del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR-France:c.3964-78_4242+577del|CFTR2:CFTRdele22,23;DBVARID=nsv1197451;GENEINFO=CFTR:1080|LOC111674477:111674477;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 7 117664695 53865 T C . . ALLELEID=68532;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117664695T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L1324P;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508653 7 117664712 487390 C T . . ALLELEID=480453;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117664712C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:Q1330X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=375661578 7 117664728 53872 T C . . ALLELEID=68539;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117664728T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:L1335P|Illumina_Laboratory_Services,Illumina:617090;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508658 7 117664758 53876 TCCTAAGC T . . ALLELEID=68543;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117664760_117664766del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:4168delCTAAGCC;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508662 7 117664770 35881 G A . . ALLELEID=44545;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN236562;CLNDN=Cystic_fibrosis|ivacaftor_response_-_Efficacy;CLNHGVS=NC_000007.14:g.117664770G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic/Likely_pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:G1349D|PharmGKB:1183960790|CFTR-France:c.4046G>A|PharmGKB_Clinical_Annotation:1183960790|CFTR2:169|UniProtKB_(protein):P13569#VAR_000268|PharmGKB:1183960790PA165950341;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922525 7 117664801 53883 TGTT AA . . ALLELEID=68550;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117664801_117664804delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=CFTR2:4209TGTT->AA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508668 7 117664809 487402 G GT . . ALLELEID=480454;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117664810dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR-France:c.4086dup|CFTR2:267|Invitae:4872340|CFTR2:4218insT;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508669 7 117664821 551822 T A . . ALLELEID=544488;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117664821T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200955612 7 117664835 53891 G T . . ALLELEID=68558;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374;CLNDN=Cystic_fibrosis|not_specified;CLNHGVS=NC_000007.14:g.117664835G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:E1371X|CFTR2:207;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508675 7 117664848 53895 A C . . ALLELEID=68562;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117664848A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:H1375P;GENEINFO=CFTR:1080;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397508678 7 117664849 487383 TTTGGA T . . ALLELEID=480455;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117664851_117664855del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CFTR2:4259del5;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1554397527 7 117665466 53903 C CA . . ALLELEID=68570;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117665469dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CFTR2:270|CFTR-France:c.4147dup|CFTR2:4279insA;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508685 7 117665466 53902 C T . . ALLELEID=68569;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117665466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:263|CFTR2:Q1382X|CFTR-France:c.4144C>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508684 7 117665515 487399 TTC T . . ALLELEID=480456;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_provided;CLNHGVS=NC_000007.14:g.117665517CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=CFTR-France:c.4197_4198delCT|CFTR2:185|CFTR2:4326delTC;GENEINFO=CFTR:1080;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508693 7 117665553 53925 C T . . ALLELEID=68592;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117665553C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:260|CFTR2:Q1411X|CFTR-France:c.4231C>T;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508701 7 117665556 53926 C T . . AF_EXAC=0.00001;ALLELEID=68593;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117665556C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:217|CFTR-France:c.4234C>T|CFTR2:Q1412X;GENEINFO=CFTR:1080;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508702 7 117665565 53929 G A . . ALLELEID=68596;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117665565G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR-France:c.4242+1G>A|CFTR2:4374+1G->A;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=372227120 7 117665565 53930 G T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=68597;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180;CLNDN=Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation;CLNHGVS=NC_000007.14:g.117665565G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CFTR2:173|CFTR2:4374+1G->T;GENEINFO=CFTR:1080;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=372227120 7 117666914 53933 GA G . . ALLELEID=68600;CLNDISDB=MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008|MedGen:CN169374|MedGen:CN517202;CLNDN=Cystic_fibrosis|not_specified|not_provided;CLNHGVS=NC_000007.14:g.117666916del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2202634|CFTR-France:c.4251delA|CFTR2:4382delA;GENEINFO=CFTR:1080|LOC111674477:111674477;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508706 7 117666961 370324 C CGA . . ALLELEID=357585;CLNDISDB=.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:ORPHA586,SNOMED_CT:190905008;CLNDN=CFTR-related_disorders|Cystic_fibrosis;CLNHGVS=NC_000007.14:g.117666963AG[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=CFTR2:205|CFTR-France:c.4300_4301dup|CFTR2:4428insGA;GENEINFO=CFTR:1080|LOC111674477:111674477;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508709 7 140734590 162794 A G . . ALLELEID=174040;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified;CLNHGVS=NC_000007.14:g.140734590A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:450271;GENEINFO=BRAF:673;MC=SO:0001624|3_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=727502903 7 140734663 40399 T C . . AF_EXAC=0.00096;AF_TGP=0.00160;ALLELEID=48869;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140734663T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:22cacbf8-01e0-4363-90a4-3a3c3fb5804d|Illumina_Laboratory_Services,Illumina:675510;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56046546 7 140739809 41447 T C . . AF_ESP=0.00046;AF_EXAC=0.00020;AF_TGP=0.00160;ALLELEID=49885;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140739809T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:e87a2198-4bd7-4ee1-a9fb-db8ca97151a8|Illumina_Laboratory_Services,Illumina:865092;GENEINFO=BRAF:673;MC=SO:0001627|intron_variant;ORIGIN=1;RS=371976102 7 140749350 40391 T C . . AF_ESP=0.32001;AF_EXAC=0.21236;AF_TGP=0.35104;ALLELEID=48861;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.140749350T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:043632b0-38d9-48f7-b0b4-993f0aa553b4|Illumina_Laboratory_Services,Illumina:65123|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:52431;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=9648696 7 140753336 40389 A C . . ALLELEID=48859;CLNDISDB=Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Melanoma|Cardio-facio-cutaneous_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140753336A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=3;RS=113488022 7 140753339 40388 G A . . ALLELEID=48858;CLNDISDB=Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Neoplasm|Melanoma|Cardiofaciocutaneous_syndrome_1|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140753339G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121913375 7 140753339 280033 G C . . ALLELEID=264307;CLNDISDB=MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_1|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140753339G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P15056#VAR_058628;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913375 7 140753348 40387 C A . . ALLELEID=48857;CLNDISDB=Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Lung_adenocarcinoma|Cardiofaciocutaneous_syndrome_1|Cardio-facio-cutaneous_syndrome|Glioblastoma|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000007.14:g.140753348C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P15056#VAR_035098|ClinGen_RASopathy_Variant_Curation_Expert_Panel:5fbeb559-b94f-4487-833a-8ea50dea3862|HGMD:CM060877;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=3;RS=397507483 7 140753350 177672 A C . . ALLELEID=174042;CLNDISDB=Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Neoplasm|Melanoma|Cardio-facio-cutaneous_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140753350A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P15056#VAR_018625|ClinGen_RASopathy_Variant_Curation_Expert_Panel:020e6a22-3189-484a-8ca8-77cd1a08adba;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=35;RS=121913341 7 140753354 375946 T A . . ALLELEID=362825;CLNDISDB=Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Melanoma|Neoplasm_of_the_large_intestine|Cardio-facio-cutaneous_syndrome|Rasopathy;CLNHGVS=NC_000007.14:g.140753354T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121913338 7 140754187 13979 T C . . ALLELEID=29018;CLNDISDB=MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_1|Cardio-facio-cutaneous_syndrome|Rasopathy|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000007.14:g.140754187T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164757.0019|ClinGen_RASopathy_Variant_Curation_Expert_Panel:f2cf40e6-1706-4a5e-b2f8-b7b396ddbde2|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:BRAF-A3;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=180177040 7 140777011 40380 C T . . ALLELEID=48850;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140777011C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:d9ad9287-b52a-479a-8ff9-9ba17dc649ae;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507479 7 140778053 177844 C A . . ALLELEID=174043;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy;CLNHGVS=NC_000007.14:g.140778053C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P15056#VAR_026115;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=180177036 7 140778053 13975 C G . . ALLELEID=29014;CLNDISDB=MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_1|Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000007.14:g.140778053C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164757.0015|UniProtKB_(protein):P15056#VAR_026115;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=180177036 7 140778054 40370 A G . . ALLELEID=48840;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140778054A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507475 7 140778094 136532 T C . . AF_ESP=0.00138;AF_EXAC=0.00105;ALLELEID=140235;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140778094T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:32508ced-9033-4f01-b4c7-f8b4db5a4307;GENEINFO=BRAF:673;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369635503 7 140781602 13974 C T . . AF_EXAC=0.00001;ALLELEID=29013;CLNDISDB=Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human_Phenotype_Ontology:HP:0006739,Human_Phenotype_Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Melanoma|Squamous_cell_carcinoma_of_the_skin|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Cardiofaciocutaneous_syndrome_1|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140781602C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:88038|ClinGen_RASopathy_Variant_Curation_Expert_Panel:f75f3f8b-6c9c-41a1-9cee-4716d67229dd|OMIM_Allelic_Variant:164757.0014|UniProtKB_(protein):P15056#VAR_018621;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121913355 7 140781617 13964 C T . . ALLELEID=29003;CLNDISDB=Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Neoplasm|B-cell_chronic_lymphocytic_leukemia|Carcinoma_of_colon|Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140781617C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P15056#VAR_018615|Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:101316|OMIM_Allelic_Variant:164757.0004;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121913348 7 140781625 40363 T C . . AF_ESP=0.00315;AF_EXAC=0.00108;AF_TGP=0.00539;ALLELEID=48833;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140781625T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ab868908-3f55-4346-8bad-adcda350acb4|Illumina_Laboratory_Services,Illumina:778309|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28832;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=56216404 7 140781676 40362 C T . . AF_ESP=0.00115;AF_EXAC=0.00059;AF_TGP=0.00020;ALLELEID=48832;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140781676C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ffcded9c-7ba2-44bb-9809-17cef8005944|Illumina_Laboratory_Services,Illumina:66139;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=56101602 7 140783108 40360 T C . . AF_ESP=0.00215;AF_EXAC=0.00291;AF_TGP=0.00060;ALLELEID=48830;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.140783108T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:450542|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:211487|ClinGen_RASopathy_Variant_Curation_Expert_Panel:dd0b96ec-49ad-4f28-801a-b7b31c5fe734;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=145035762 7 140787575 448924 T C . . AF_EXAC=0.00013;AF_TGP=0.00020;ALLELEID=442525;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000007.14:g.140787575T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2153a39b-818c-4cb1-b6e6-db1a736b545f;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=545495379 7 140794380 44788 T C . . AF_ESP=0.00015;AF_EXAC=0.00030;AF_TGP=0.00080;ALLELEID=53955;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140794380T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:701249a7-0946-42fa-a856-c7089a0251c6|Illumina_Laboratory_Services,Illumina:705782;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143335467 7 140794424 359048 T C . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=302003;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140794424T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:771018;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201481342 7 140800366 417225 T C . . AF_EXAC=0.00009;ALLELEID=395821;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140800366T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:e46ee061-0859-4581-9333-f113c0784ab0;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775040765 7 140800374 44834 G A . . AF_EXAC=0.00016;ALLELEID=54001;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140800374G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:991935c6-c179-4715-b017-4dacb3dfd3ac;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516907 7 140801479 44832 C G . . ALLELEID=53999;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Noonan_syndrome|Rasopathy;CLNHGVS=NC_000007.14:g.140801479C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_for_Genomic_Medicine_(IGM)_Clinical_Laboratory,Nationwide_Children's_Hospital:NCH_ACC:2210;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516905 7 140801502 13973 T C . . ALLELEID=29012;CLNDISDB=MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_1|Noonan_syndrome_7|LEOPARD_syndrome_3|Cardio-facio-cutaneous_syndrome|Rasopathy|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140801502T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:5f9417cc-43e4-41be-b920-ae6db397bdaa|HGMD:CM060874|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:81372|OMIM_Allelic_Variant:164757.0013|UniProtKB_(protein):P15056#VAR_026114;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=33;RS=180177035 7 140801531 55793 A C . . ALLELEID=70449;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140801531A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:66924744-6ed6-4985-8479-1c8bab448ed0;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397509343 7 140801532 40349 A G . . ALLELEID=48819;CLNDISDB=MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MedGen:CN517202;CLNDN=Noonan_syndrome_and_Noonan-related_syndrome|not_provided;CLNHGVS=NC_000007.14:g.140801532A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:7808e324-29b8-43db-85ad-2f63caa01996;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507467 7 140801533 44830 A C . . ALLELEID=53997;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140801533A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:d691f327-120d-4c5c-b56e-fbfdc3f820f3;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397516903 7 140801533 180784 A G . . ALLELEID=179102;CLNDISDB=MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_1|Noonan_syndrome_1|Noonan_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140801533A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9a18dc91-2016-4b25-ab42-a9f679412ae8;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397516903 7 140801536 13965 C G . . ALLELEID=29004;CLNDISDB=MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_1|Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140801536C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2eac9953-9576-4ab4-8bd3-c9d0c1d40f0c|OMIM_Allelic_Variant:164757.0012|UniProtKB_(protein):P15056#VAR_026113;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=180177034 7 140801537 40348 T A . . ALLELEID=48818;CLNDISDB=MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_with_multiple_lentigines|Cardio-facio-cutaneous_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140801537T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P15056#VAR_058623|ClinGen_RASopathy_Variant_Curation_Expert_Panel:fc4fa86e-060f-49dc-8ade-c259aa8ad24b;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507466 7 140801537 40347 T G . . ALLELEID=48817;CLNDISDB=MONDO:MONDO:0005138,MedGen:C0684249|MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Lung_carcinoma|Cardiofaciocutaneous_syndrome_1|Noonan_syndrome_1|Noonan_syndrome_7|LEOPARD_syndrome_3|Cardio-facio-cutaneous_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140801537T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:164757.0027|ClinGen_RASopathy_Variant_Curation_Expert_Panel:cf6b44e4-40ca-4713-b35e-0ad194eb2f96|UniProtKB_(protein):P15056#VAR_058623;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507466 7 140801542 40346 T G . . ALLELEID=48816;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140801542T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P15056#VAR_065171|ClinGen_RASopathy_Variant_Curation_Expert_Panel:4581b48f-d077-4114-baf4-9c4b42fd49c4;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507465 7 140801550 44829 G T . . ALLELEID=53996;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Noonan_syndrome|Rasopathy;CLNHGVS=NC_000007.14:g.140801550G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=387906660 7 140807963 44827 G A . . AF_ESP=0.00015;AF_EXAC=0.00030;AF_TGP=0.00080;ALLELEID=53994;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140807963G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:a981d131-53cd-457c-9cff-8897fff5e486|Illumina_Laboratory_Services,Illumina:705784;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=138333692 7 140808049 178963 T C . . AF_EXAC=0.00001;ALLELEID=174180;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140808049T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504571 7 140834630 44826 C G . . AF_ESP=0.00046;AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=53993;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140834630C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:4fcbc6a6-a933-4864-9c77-53427914f590;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=61730029 7 140834738 44825 A C . . AF_EXAC=0.00012;AF_TGP=0.00060;ALLELEID=53992;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140834738A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:0fdcd6c2-d132-4727-b944-17e200706a31|Illumina_Laboratory_Services,Illumina:643305;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201507202 7 140924593 162804 C T . . ALLELEID=174046;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140924593C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:7e872ce6-f7c9-4c3d-a39e-8a174058fd77;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=727502906 7 140924612 44833 G C . . ALLELEID=54000;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000007.14:g.140924612G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2c995b09-a4bb-4aac-a4ff-9717ea5fe648;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516906 7 140924640 40335 C T . . AF_EXAC=0.00010;ALLELEID=48805;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Cardiomyopathy|Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000007.14:g.140924640C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:40d931f8-341b-4977-ab52-21f7f06c27ee|Illumina_Laboratory_Services,Illumina:289348;GENEINFO=BRAF:673;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507456 7 140924668 40333 C T . . AF_EXAC=0.00145;ALLELEID=48803;CLNDISDB=MONDO:MONDO:0013379,MedGen:C3150970,OMIM:613706|MONDO:MONDO:0013380,MedGen:C3150971,OMIM:613707|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_7|LEOPARD_syndrome_3|Rasopathy|not_provided;CLNHGVS=NC_000007.14:g.140924668C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:37d415c0-90e7-425c-84bc-6361413d50aa|Illumina_Laboratory_Services,Illumina:287636;GENEINFO=BRAF:673;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=397507454 10 71511163 228491 A G . . ALLELEID=229846;CLNDISDB=MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Usher_syndrome|Rare_genetic_deafness;CLNHGVS=NC_000010.11:g.71511163A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH23:64072|CDH23-AS1:102723377;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876657754 10 71511216 45941 G A . . AF_EXAC=0.00169;AF_TGP=0.00359;ALLELEID=55106;CLNDISDB=Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Retinitis_pigmentosa|Usher_syndrome_type_1D|Deafness,_autosomal_recessive_12|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71511216G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:502468;GENEINFO=CDH23:64072|CDH23-AS1:102723377;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397517328 10 71570884 4928 C T . . AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=19967;CLNDISDB=MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202;CLNDN=Usher_syndrome_type_1D|Deafness,_autosomal_recessive_12|Nonsyndromic_hearing_loss_and_deafness|not_provided;CLNHGVS=NC_000010.11:g.71570884C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605516.0014|Illumina_Laboratory_Services,Illumina:1325097;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908354 10 71615573 4929 G A . . AF_EXAC=0.00002;ALLELEID=19968;CLNDISDB=MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_12|Nonsyndromic_hearing_loss_and_deafness|not_provided;CLNHGVS=NC_000010.11:g.71615573G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605516.0015;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908355 10 71677444 228484 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=229854;CLNDISDB=MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1D|Nonsyndromic_hearing_loss_and_deafness|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71677444G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH23:64072;MC=SO:0001627|intron_variant;ORIGIN=5;RS=369396703 10 71694233 45891 C T . . AF_ESP=0.00087;AF_EXAC=0.00232;AF_TGP=0.00140;ALLELEID=55056;CLNDISDB=.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:ORPHA791,SNOMED_CT:28835009|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004,SNOMED_CT:57838006|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Non-Syndromic_Hereditary_Hearing_Impairment|Retinitis_pigmentosa|Usher_syndrome_type_1|Retinitis_pigmentosa-deafness_syndrome|Usher_syndrome_type_1D|Deafness,_autosomal_recessive_12|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71694233C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM082527;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=5;RS=181255269 10 71705043 444219 G A . . AF_EXAC=0.00003;ALLELEID=437859;CLNDISDB=Human_Phenotype_Ontology:HP:0000374,Human_Phenotype_Ontology:HP:0000407,Human_Phenotype_Ontology:HP:0001753,Human_Phenotype_Ontology:HP:0001916,Human_Phenotype_Ontology:HP:0008538,Human_Phenotype_Ontology:HP:0008553,Human_Phenotype_Ontology:HP:0008565,Human_Phenotype_Ontology:HP:0008576,Human_Phenotype_Ontology:HP:0008611,Human_Phenotype_Ontology:HP:0008613,Human_Phenotype_Ontology:HP:0008614,MONDO:MONDO:0020678,MeSH:D006319,MedGen:C0018784,SNOMED_CT:60700002|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290|MedGen:CN517202;CLNDN=Sensorineural_hearing_loss_disorder|Deafness,_autosomal_recessive_12|Deafness,_autosomal_recessive|not_provided;CLNHGVS=NC_000010.11:g.71705043G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=5;RS=756147087 10 71730514 4927 A G . . AF_EXAC=0.01283;AF_TGP=0.04932;ALLELEID=19966;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Usher_syndrome_type_1D|Deafness,_autosomal_recessive_12|Usher_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000010.11:g.71730514A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605516.0013|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:45780|Illumina_Laboratory_Services,Illumina:111225;GENEINFO=CDH23:64072|C10orf105:414152;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41281314 10 71732271 178685 C T . . AF_ESP=0.00008;AF_TGP=0.00060;ALLELEID=175253;CLNDISDB=MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1D|Deafness,_autosomal_recessive_12|Usher_syndrome|Pituitary_adenoma_5,_multiple_types|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71732271C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH23:64072|C10orf105:414152;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=373276722 10 71778252 197422 G A . . AF_ESP=0.00008;AF_EXAC=0.00030;AF_TGP=0.00040;ALLELEID=194583;CLNDISDB=MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Usher_syndrome_type_1D|Deafness,_autosomal_recessive_12|Usher_syndrome|not_provided;CLNHGVS=NC_000010.11:g.71778252G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:620343;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=1;RS=181611778 10 71793542 46014 C T . . ALLELEID=55179;CLNDISDB=MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_12|Usher_syndrome|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71793542C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517349 10 71798390 228500 A G . . ALLELEID=229894;CLNDISDB=MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_12|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71798390A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:10_August2016|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132936;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=17;RS=876657756 10 71806186 422345 G A . . AF_ESP=0.00016;AF_EXAC=0.00000;ALLELEID=407904;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71806186G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:90080;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369501114 10 71812822 4926 C T . . ALLELEID=19965;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:C3276419|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Usher_syndrome|USHER_SYNDROME,_TYPE_ID/F,_DIGENIC|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71812822C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605516.0012;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908353 10 71812823 162956 G A . . AF_EXAC=0.00003;ALLELEID=175286;CLNDISDB=MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.71812823G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727502936 10 71812826 46076 C T . . AF_ESP=0.00016;AF_EXAC=0.00029;ALLELEID=55241;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0054601,MedGen:C4539685,OMIM:617540|MedGen:CN169374|MedGen:CN239227|MedGen:CN517202;CLNDN=Hearing_impairment|Usher_syndrome_type_1D|Deafness,_autosomal_recessive_12|Usher_syndrome|Pituitary_adenoma_5,_multiple_types|not_specified|CDH23-Related_Disorders|not_provided;CLNHGVS=NC_000010.11:g.71812826C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:293534;GENEINFO=CDH23:64072;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033536 10 87863158 127667 T C . . AF_TGP=0.00060;ALLELEID=133124;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87863158T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2651553;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=70937047 10 87863269 189433 TGCAAAAGCCGCA T . . ALLELEID=187281;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87863274_87863285del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:a4de2dba-9fd0-4e69-a9e5-2e6d4ec56af5;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587781340 10 87863279 127663 G A . . ALLELEID=133120;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:ORPHA3412|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Cowden_syndrome_1|VACTERL_association_with_hydrocephalus|Macrocephaly/autism_syndrome|Meningioma,_familial|Glioma_susceptibility_2|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87863279G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:aa743dc5-7454-4c3d-8c57-501fefb597f1;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779982 10 87863299 127662 C T . . ALLELEID=133119;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87863299C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2372055|ClinGen_PTEN_Variant_Curation_Expert_Panel:8c50af60-fe53-4c9b-b60a-3735d21c8645|Counsyl:303359;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779981 10 87863327 127661 C T . . AF_TGP=0.00220;ALLELEID=133118;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87863327C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2429992;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=563841270 10 87863385 127660 C T . . AF_TGP=0.00559;ALLELEID=133117;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87863385C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2152|ClinGen_PTEN_Variant_Curation_Expert_Panel:e2f7ef05-08bd-4ef3-ace7-9e1121c35952;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=538728843 10 87863410 189520 C G . . AF_TGP=0.00379;ALLELEID=172162;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87863410C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=144620057 10 87863443 138836 C A . . AF_TGP=0.00140;ALLELEID=142539;CLNDISDB=MONDO:MONDO:0014046,MedGen:C3554517,OMIM:615107|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Cowden_syndrome_4|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87863443C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=34149102 10 87863494 127684 G A . . ALLELEID=133141;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87863494G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:0a3b6aa8-ca64-4f5b-bf58-e79930be9a9f;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587780001 10 87863494 127685 G C . . ALLELEID=133142;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Seizures|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87863494G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:d5ebdbde-0541-439f-8bbb-2234f7aa3636;GENEINFO=PTEN:5728|KLLN:100144748;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587780001 10 87863560 127681 T C . . AF_TGP=0.00020;ALLELEID=133138;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87863560T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:6645334e-8bca-425f-949d-27eb2959bb70|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2632630;GENEINFO=PTEN:5728;ORIGIN=1;RS=550385924 10 87863566 138837 G A . . AF_TGP=0.01098;ALLELEID=142540;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000010.11:g.87863566G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2371878|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2155;GENEINFO=PTEN:5728;ORIGIN=1;RS=1044322 10 87863608 7845 G T . . ALLELEID=22884;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87863608G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601728.0034|ClinGen_PTEN_Variant_Curation_Expert_Panel:b7d1c7bd-f00c-4e8d-a6a5-e83fed03f5df;GENEINFO=PTEN:5728;ORIGIN=1;RS=587776675 10 87863633 189497 C T . . ALLELEID=187302;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87863633C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:33db34fc-6e87-4071-927e-75502052d33d;GENEINFO=PTEN:5728;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786204940 10 87863671 127674 G C . . ALLELEID=133131;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87863671G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587779992 10 87863705 7844 G A . . ALLELEID=22883;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:ORPHA3412|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Cowden_syndrome_1|VACTERL_association_with_hydrocephalus|Macrocephaly/autism_syndrome|Meningioma,_familial|Glioma_susceptibility_2|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87863705G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601728.0033;GENEINFO=PTEN:5728;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587776674 10 87863735 127672 G A . . ALLELEID=133129;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87863735G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:661640|ClinGen_PTEN_Variant_Curation_Expert_Panel:ffaaa038-c2bf-425c-b1d9-29e7adab495b|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840095;GENEINFO=PTEN:5728;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886047384 10 87864461 92808 C G . . AF_ESP=0.00015;AF_EXAC=0.00362;AF_TGP=0.01098;ALLELEID=98715;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87864461C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:152884|HGMD:CR033149|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2157;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=11202592 10 87864470 484600 A G . . ALLELEID=475363;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87864470A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:b5f8e9e7-3f37-42d6-9844-c91a9757b411;GENEINFO=PTEN:5728;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1554890324 10 87864487 233415 A G . . ALLELEID=233839;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87864487A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876660391 10 87864505 7834 C CA . . ALLELEID=22873;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87864509dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:d7cc25c0-43b3-408c-8e19-6aab8d40a4f1|OMIM_Allelic_Variant:601728.0022;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587776671 10 87864513 404147 G A . . ALLELEID=397912;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87864513G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:9b8faad8-e78a-4d2f-8805-210367466752;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=398123324 10 87864518 141654 CAA C . . AF_EXAC=0.00001;ALLELEID=151368;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87864519_87864520del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587781912 10 87864544 184505 G A . . ALLELEID=183008;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87864544G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:e5e35031-cdfe-44ec-ad5e-0f3892c0a7b1;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786201506 10 87864547 184104 C T . . ALLELEID=183009;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87864547C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:5ae8d67a-b184-476c-878e-aef6ec246a56|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:164562;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786201280 10 87864555 127692 A G . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=133149;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified;CLNHGVS=NC_000010.11:g.87864555A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:3acf8a70-e306-4b52-9401-648b6e0a3c99;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=374331677 10 87864568 140807 C G . . ALLELEID=150521;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87864568C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:58d4d344-a1e3-409c-b952-bcb231e15d01;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587781291 10 87864583 92827 C T . . AF_ESP=0.00077;AF_TGP=0.00100;ALLELEID=98734;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified;CLNHGVS=NC_000010.11:g.87864583C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2160;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=190707033 10 87894024 189462 G C . . ALLELEID=187328;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87894024G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:2f607d68-ce7c-4110-9640-98a0992a2d02;GENEINFO=PTEN:5728;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=786204914 10 87894025 404160 A G . . ALLELEID=398044;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MeSH:D030342,MedGen:C0950123;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|Inborn_genetic_diseases;CLNHGVS=NC_000010.11:g.87894025A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:d78c91f0-0265-4f61-9c40-6a7bc3309acb;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886041877 10 87894038 449088 CATT C . . ALLELEID=444672;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87894039ATT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:18b368f7-e2f3-4e09-a961-5f209be89228;GENEINFO=PTEN:5728;MC=SO:0001822|inframe_deletion,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1554893765 10 87894048 231916 A G . . ALLELEID=233842;CLNDISDB=MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Meningioma,_familial|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000010.11:g.87894048A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:4f6345e3-25b1-48cd-9697-1a5624715071;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876659443 10 87894049 7825 T G . . ALLELEID=22864;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87894049T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_008036|OMIM_Allelic_Variant:601728.0011|ClinGen_PTEN_Variant_Curation_Expert_Panel:2374c339-e2d7-4496-9d9a-d33c1abd8dce;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121909225 10 87894057 127688 C T . . ALLELEID=133145;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87894057C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:c18b6eab-2415-46f1-9018-781158bc9857;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587780004 10 87894059 184068 T G . . AF_EXAC=0.00001;ALLELEID=183013;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87894059T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:a06a1116-f26c-4129-8a43-c1ecbda9bc38;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=748040144 10 87894077 92813 C T . . AF_ESP=0.00146;AF_TGP=0.00020;ALLELEID=98720;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000010.11:g.87894077C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:60646|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:57354|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2372288;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=150651961 10 87894104 184020 A G . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=183016;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87894104A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:995c0e99-dc70-494f-bb25-ccabe14633fb;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=189583426 10 87925488 189425 TTTTG T . . ALLELEID=187336;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87925492_87925495GTTT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=786204877 10 87925512 187590 G A . . ALLELEID=183017;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87925512G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:8c8c1292-baf8-4fcd-abbf-e22a7793a5dd;GENEINFO=PTEN:5728;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203847 10 87925512 427613 G C . . ALLELEID=416968;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87925512G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:1baf0f96-4866-4e7c-aa93-f3055ef6a2d5;GENEINFO=PTEN:5728;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203847 10 87925518 185713 T G . . ALLELEID=183018;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87925518T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_007460|ClinGen_PTEN_Variant_Curation_Expert_Panel:d0edcf69-04fa-4771-afb0-a49f8aab9ead;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202398 10 87925529 7841 C G . . ALLELEID=22880;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:C2749240;CLNDN=PTEN_hamartoma_tumor_syndrome|Vater_association_with_macrocephaly_and_ventriculomegaly;CLNHGVS=NC_000010.11:g.87925529C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601728.0030|ClinGen_PTEN_Variant_Curation_Expert_Panel:37398c37-6caa-4c1d-a1b1-3881be31e38b|UniProtKB_(protein):P60484#VAR_018101;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=121909236 10 87925543 237643 C G . . ALLELEID=240873;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87925543C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:994ade45-e2c0-40c5-9bb6-a646666f386c;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=878853936 10 87925557 7826 T C . . ALLELEID=22865;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87925557T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:12985d15-e1e7-45ab-b3e5-48e082086d4d|OMIM_Allelic_Variant:601728.0012|UniProtKB_(protein):P60484#VAR_018102;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=121909226 10 87925557 92816 TGTAA T . . ALLELEID=98723;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Neoplasm_of_ovary|Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87925561_87925564del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2890325|HGMD:CD004540;GENEINFO=PTEN:5728;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=3;RS=398123318 10 87925560 185989 A T . . ALLELEID=183020;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87925560A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:049d3e03-b5ad-4a47-92e9-ee077179049a;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=786202612 10 87931033 142397 ACTTTT A . . ALLELEID=152111;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000010.11:g.87931034_87931038CTTTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:149610|ClinGen_PTEN_Variant_Curation_Expert_Panel:48b4a5b9-e1c5-421f-b71f-26b8643652bc|Illumina_Laboratory_Services,Illumina:773789;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587780544 10 87931041 427615 TTTAG T . . ALLELEID=416971;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87931044_87931047del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:ca722131-1468-4343-b167-5e21cff05b0d;GENEINFO=PTEN:5728;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1554897854 10 87931071 41682 G A . . AF_EXAC=0.00013;ALLELEID=50121;CLNDISDB=Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|Human_Phenotype_Ontology:HP:0006731,MONDO:MONDO:0008566,MedGen:C0206682,OMIM:188470|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007924,MedGen:C0265326,Orphanet:ORPHA109|MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:ORPHA3412|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Intellectual_disability|Thyroid_cancer,_nonmedullary,_2|Endometrial_carcinoma|Malignant_tumor_of_prostate|Carcinoma_of_colon|Bannayan-Riley-Ruvalcaba_syndrome|Cutaneous_malignant_melanoma_1|Cowden_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|VACTERL_association_with_hydrocephalus|Macrocephaly/autism_syndrome|Meningioma,_familial|Glioma_susceptibility_2|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87931071G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2470922;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=5;RS=202004587 10 87932974 92817 G GT . . ALLELEID=98724;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified;CLNHGVS=NC_000010.11:g.87932983dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:f3d13f7e-dd82-4443-bbf7-33e0fe5e421d;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77494260 10 87932974 92818 G T . . AF_EXAC=0.00039;AF_TGP=0.00080;ALLELEID=98725;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87932974G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35034871 10 87933025 428271 C CT . . ALLELEID=419711;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933029dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:a3be49ba-5c93-4f8f-a2a8-e7d30a583ad9;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1114167678 10 87933037 7848 A G . . ALLELEID=22887;CLNDISDB=MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933037A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601728.0037|UniProtKB_(protein):P60484#VAR_032634|ClinGen_PTEN_Variant_Curation_Expert_Panel:902dd050-bb88-4ce6-b98d-dd80cbc3aa5e;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121909238 10 87933043 189403 C T . . ALLELEID=187345;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933043C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:43eee6bc-e0e1-4ce0-8d9a-b838428c1884|Herman_Laboratory,Nationwide_Children's_Hospital:PTENv2017-10;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786204856 10 87933046 449089 C T . . ALLELEID=444673;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933046C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:8f7f63bb-496b-4b77-8258-d706ccc91766;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1554898074 10 87933062 142681 C CAAA . . ALLELEID=152395;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933063_87933065dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:742e08c9-7bda-4006-95f1-22f34ec0d9e1;GENEINFO=PTEN:5728;MC=SO:0001821|inframe_insertion,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782641 10 87933063 186427 A C . . ALLELEID=183022;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933063A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:db32e75a-9a54-4922-9aaf-03a6bf68097e;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786202944 10 87933073 142261 G A . . ALLELEID=151975;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933073G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_008735|ClinGen_PTEN_Variant_Curation_Expert_Panel:dce7b398-e447-420b-8da1-a51cbf6a8e69;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782343 10 87933079 372481 A T . . ALLELEID=359885;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933079A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Herman_Laboratory,Nationwide_Children's_Hospital:PTENv2017-12|ClinGen_PTEN_Variant_Curation_Expert_Panel:af7069ee-474b-491e-9317-5e91eeba5b76;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=17;RS=786204858 10 87933090 92820 T C . . ALLELEID=98727;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933090T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM014084|ClinGen_PTEN_Variant_Curation_Expert_Panel:59486401-1daa-48dc-813f-bde6605d8cfd;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=398123321 10 87933097 139567 G T . . ALLELEID=143197;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933097G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:f5fca852-9b72-4798-a482-88fe3941f654;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587781254 10 87933119 189426 A C . . AF_EXAC=0.00001;ALLELEID=187351;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified;CLNHGVS=NC_000010.11:g.87933119A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=759485888 10 87933123 186161 A G . . ALLELEID=183026;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933123A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:c4bf5c74-cf88-47c3-812d-89a0c0e7f110;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786202740 10 87933126 428277 C G . . ALLELEID=419722;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933126C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:363d5223-feca-47e8-a3b8-115e05778f7f;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786204931 10 87933127 7816 A G . . ALLELEID=22855;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933127A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601728.0005|ClinGen_PTEN_Variant_Curation_Expert_Panel:4ed5aa0a-d183-4c08-b6f6-23ffb9904a78|UniProtKB_(protein):P60484#VAR_007463;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121909222 10 87933129 7817 T C . . ALLELEID=22856;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933129T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601728.0006|ClinGen_PTEN_Variant_Curation_Expert_Panel:b3d1af7f-63db-40b7-9bb6-1937661a6003|UniProtKB_(protein):P60484#VAR_007464;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121909223 10 87933147 375958 C G . . ALLELEID=362837;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0021320,MedGen:C0153368|MedGen:C0153574|MedGen:CN517202;CLNDN=Breast_neoplasm|Renal_cell_carcinoma,_papillary,_1|Malignant_melanoma_of_skin|Endometrial_carcinoma|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|PTEN_hamartoma_tumor_syndrome|Glioblastoma|Malignant_tumor_of_floor_of_mouth|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000010.11:g.87933147C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:1ff92475-1a3f-42b2-b733-1515bf2a4e10;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=121909224 10 87933148 7829 G A . . ALLELEID=22868;CLNDISDB=Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MedGen:C0153574|MedGen:CN517202;CLNDN=Neoplasm|Breast_neoplasm|Renal_cell_carcinoma,_papillary,_1|Malignant_melanoma_of_skin|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Uterine_Carcinosarcoma|Cowden_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|Glioblastoma|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000010.11:g.87933148G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_007468|OMIM_Allelic_Variant:601728.0017;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=121909229 10 87933148 142018 G C . . ALLELEID=151732;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MedGen:C0153574;CLNDN=Breast_neoplasm|Renal_cell_carcinoma,_papillary,_1|Malignant_melanoma_of_skin|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|Glioblastoma|Malignant_neoplasm_of_body_of_uterus;CLNHGVS=NC_000010.11:g.87933148G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:10bca2c6-405c-4f3a-919f-53db4e026879;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=121909229 10 87933151 39669 C T . . ALLELEID=48268;CLNDISDB=MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933151C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:78613fd1-ded6-4249-b54d-0894617cf17d|OMIM_Allelic_Variant:601728.0043|UniProtKB_(protein):P60484#VAR_076762;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397514560 10 87933154 92822 G A . . ALLELEID=98729;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933154G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM045431|ClinGen_PTEN_Variant_Curation_Expert_Panel:9c15b246-ef9f-4f55-a246-126b49710717;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121909241 10 87933166 189406 G A . . ALLELEID=187355;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87933166G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_007808;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786204859 10 87933200 428216 GG A . . ALLELEID=419731;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933200_87933201delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:6c80a1d5-39c5-49ee-915e-3b6840f8d492;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1114167641 10 87933223 404168 A G . . ALLELEID=398057;CLNDISDB=.|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndromes|Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000010.11:g.87933223A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:dab6b7c8-ee3d-4d08-bdd5-ffb0fee948cd;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=5;RS=1060500126 10 87933228 7814 G T . . ALLELEID=22853;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MONDO:MONDO:0019002,MedGen:C0391826,Orphanet:ORPHA65285;CLNDN=PTEN_hamartoma_tumor_syndrome|Lhermitte-Duclos_disease;CLNHGVS=NC_000010.11:g.87933228G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:c8a8caba-2251-491c-8758-14da15b51065|OMIM_Allelic_Variant:601728.0003;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121909220 10 87933236 375959 G T . . ALLELEID=362838;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Breast_neoplasm|Neoplasm_of_the_large_intestine|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933236G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:6ba47371-001e-4be9-8252-885e7e1a5f99;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=1057519724 10 87933252 427619 G T . . ALLELEID=416978;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|Meningioma,_familial|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933252G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:5c3ae893-8941-4e60-92cd-ad0a39dcde67;GENEINFO=PTEN:5728;MC=SO:0001575|splice_donor_variant;ORIGIN=33;RS=1554898242 10 87933253 7821 T G . . ALLELEID=22860;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87933253T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601728.0009|ClinGen_PTEN_Variant_Curation_Expert_Panel:97d2ac8e-89b9-466c-a53a-4e15d173a70a;GENEINFO=PTEN:5728;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1554898244 10 87952116 141485 A G . . ALLELEID=151199;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87952116A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=587781784 10 87952118 428256 G A . . ALLELEID=419734;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87952118G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:7dfd587f-6e05-448b-b023-de30c0bfd916;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782603 10 87952125 39668 C A . . ALLELEID=48267;CLNDISDB=MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952125C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_076763|OMIM_Allelic_Variant:601728.0042|ClinGen_PTEN_Variant_Curation_Expert_Panel:73986d71-3b36-4038-80e9-66da44231b6f;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397514559 10 87952129 7843 TC T . . ALLELEID=22882;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017571,MedGen:C1866398,Orphanet:ORPHA2969|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|Proteus-like_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952132del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:601728.0032|ClinGen_PTEN_Variant_Curation_Expert_Panel:cda272e6-a64d-4303-8640-80c038c51db1;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587776673 10 87952135 7815 T A . . ALLELEID=22854;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952135T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_007470|ClinGen_PTEN_Variant_Curation_Expert_Panel:67ade3e6-3038-4022-903b-9caf929577ba|OMIM_Allelic_Variant:601728.0004;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121909221 10 87952136 428206 C CA . . ALLELEID=419737;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952137dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4886400|ClinGen_PTEN_Variant_Curation_Expert_Panel:df053db0-9ad9-48ee-aea1-550cda8b3586;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1114167632 10 87952136 189411 C T . . ALLELEID=187361;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87952136C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786204864 10 87952142 189500 C T . . ALLELEID=187363;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:ORPHA3412|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Neoplasm_of_brain|Cowden_syndrome_1|VACTERL_association_with_hydrocephalus|Macrocephaly/autism_syndrome|Meningioma,_familial|Glioma_susceptibility_2|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87952142C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_026267|Herman_Laboratory,Nationwide_Children's_Hospital:PTENv2017-22;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=35;RS=121913293 10 87952145 142220 T A . . ALLELEID=151934;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952145T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:58b7be5a-c98e-4344-9f4f-cff2dd70911d|UniProtKB_(protein):P60484#VAR_026270;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782316 10 87952146 220007 A G . . ALLELEID=222000;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87952146A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=864622341 10 87952159 7824 TA AT . . ALLELEID=22863;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952159_87952160delinsAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:ebef4811-dc36-4625-bd07-ea516d1cad7e|OMIM_Allelic_Variant:601728.0014;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397515374 10 87952170 187827 T C . . ALLELEID=185731;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952170T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:37c0f7de-70de-4f9e-93c7-c0ada6770ecc;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=65;RS=794729664 10 87952189 7831 T A . . ALLELEID=22870;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:C4015779;CLNDN=PTEN_hamartoma_tumor_syndrome|Prostate_cancer,_somatic;CLNHGVS=NC_000010.11:g.87952189T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601728.0019|ClinGen_PTEN_Variant_Curation_Expert_Panel:3026a8af-72dd-459e-be90-922c578fc8f6;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=606231170 10 87952204 135911 G A . . AF_EXAC=0.00009;AF_TGP=0.00040;ALLELEID=139623;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87952204G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:678680|ClinGen_PTEN_Variant_Curation_Expert_Panel:28570ef1-4ba1-41b7-826e-bc8dda6b7fd3;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=568851024 10 87952210 7823 TC T . . ALLELEID=22862;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952211del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:601728.0013|ClinGen_PTEN_Variant_Curation_Expert_Panel:47291ab6-b17d-4e14-9acd-faae6fe9ec1e;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587776670 10 87952224 189414 T C . . ALLELEID=187368;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87952224T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:633ec420-0afb-4647-b05d-ed0a118f2469;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=786204867 10 87952235 189415 C G . . ALLELEID=187370;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87952235C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:b5627c7e-eb93-4a97-95aa-58fd645e077c;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=786204868 10 87952261 427621 T C . . ALLELEID=416982;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87952261T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:edd5288c-6ece-4001-89e3-630a23d32f46;GENEINFO=PTEN:5728;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=727504114 10 87952264 427623 G C . . ALLELEID=416984;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome|not_specified;CLNHGVS=NC_000010.11:g.87952264G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:bb8a0b6c-784c-4603-88f5-dc7102811034;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=138336847 10 87957850 427599 C G . . ALLELEID=416949;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87957850C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=MutSpliceDB:_a_database_of_splice_sites_variants_effects_on_splicing,NIH:CA645294060|Herman_Laboratory,Nationwide_Children's_Hospital:PTENv2017-29|ClinGen_PTEN_Variant_Curation_Expert_Panel:757c122c-05dc-41a9-bad0-40ff4ea79d3d;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=35;RS=1085308056 10 87957869 255814 C T . . ALLELEID=253902;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374;CLNDN=PTEN_hamartoma_tumor_syndrome|not_specified;CLNHGVS=NC_000010.11:g.87957869C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:2f3d636c-4b73-48ee-93dd-243ce38e9778;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886038278 10 87957903 141771 T A . . ALLELEID=151485;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87957903T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:PTEN-A2|ClinGen_PTEN_Variant_Curation_Expert_Panel:03e612cf-a8bb-44f9-b7f8-01929aad72ec|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2662266;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781998 10 87957913 7822 CA C . . ALLELEID=22861;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87957914del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:b5898872-dd1b-462b-9884-a69944868912|OMIM_Allelic_Variant:601728.0010;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587776669 10 87957916 376510 G A . . AF_EXAC=0.00001;ALLELEID=363389;CLNDISDB=Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MedGen:C0153574;CLNDN=Transitional_cell_carcinoma_of_the_bladder|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Uterine_Carcinosarcoma|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|Glioblastoma|Malignant_neoplasm_of_body_of_uterus;CLNHGVS=NC_000010.11:g.87957916G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:84ca1fb2-bf36-42c2-8262-5a470ed8dfa7;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=3;RS=770025422 10 87957918 184844 C T . . ALLELEID=183040;CLNDISDB=Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Neoplasm|Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87957918C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:45c8d19e-5bfc-4e2d-bc35-187033466d5d;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=11;RS=786201730 10 87957919 7840 G A . . ALLELEID=22879;CLNDISDB=Human_Phenotype_Ontology:HP:0002858,Human_Phenotype_Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:ORPHA2495|MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Meningioma|Glioma_susceptibility_2|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87957919G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:5fe899fa-c13c-4145-9397-0b200e380e4c|UniProtKB_(protein):P60484#VAR_018106|OMIM_Allelic_Variant:601728.0029;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909235 10 87957933 184878 A G . . ALLELEID=183042;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87957933A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:dd41683a-d4b5-4e1a-aafb-d6cbe064561e;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=786201758 10 87957938 183876 C T . . AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=183043;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87957938C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:46a0658f-d1ec-44af-8a4b-2a05b09dd6b3;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=190070312 10 87957940 7850 T C . . ALLELEID=22889;CLNDISDB=MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87957940T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_032636|ClinGen_PTEN_Variant_Curation_Expert_Panel:5c047758-6fb8-4f71-9a53-077a7bf9a2c2|OMIM_Allelic_Variant:601728.0039;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909240 10 87957955 142269 C T . . ALLELEID=151983;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN221562|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000010.11:g.87957955C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_008740|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:PTEN-A3;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587782350 10 87957958 223142 T C . . ALLELEID=224868;CLNDISDB=MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87957958T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:33e47859-5909-4f34-ac6c-c5bf41ab8544;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1057519368 10 87957973 7849 A G . . ALLELEID=22888;CLNDISDB=MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87957973A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P60484#VAR_032637|OMIM_Allelic_Variant:601728.0038|ClinGen_PTEN_Variant_Curation_Expert_Panel:d7efe33c-ab88-4472-ad12-90db0ed372bf;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909239 10 87957977 7830 CAAAGT C . . ALLELEID=22869;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:C4015779;CLNDN=PTEN_hamartoma_tumor_syndrome|Prostate_cancer,_somatic;CLNHGVS=NC_000010.11:g.87957979_87957983del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:601728.0018|ClinGen_PTEN_Variant_Curation_Expert_Panel:3530100c-d75d-44ae-8775-47e7f7f5978c;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=606231169 10 87957984 7828 G T . . ALLELEID=22867;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87957984G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:4284ff17-816f-4321-a0b3-e3baeb0afc95|OMIM_Allelic_Variant:601728.0016;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense;ORIGIN=1;RS=121909228 10 87958018 404140 AG A . . ALLELEID=397720;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87958020del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1254503|ClinGen_PTEN_Variant_Curation_Expert_Panel:d8470abc-cd84-4dd7-aa9d-def2c9c878aa;GENEINFO=PTEN:5728;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1060500110 10 87958042 92829 G A . . AF_ESP=0.00115;AF_EXAC=0.00038;AF_TGP=0.00080;ALLELEID=98736;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87958042G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116160352 10 87960840 220416 ATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTT A . . ALLELEID=222001;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87960843_87960880del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:24546|ClinGen_PTEN_Variant_Curation_Expert_Panel:0ac92ea4-6700-459b-b067-82f87dddb118;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=557364463 10 87960891 135912 T A . . ALLELEID=139624;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified;CLNHGVS=NC_000010.11:g.87960891T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:aa1070f5-4e74-49ed-a3cd-9f7d0c2d5a35;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587780712 10 87960891 301423 TA T . . ALLELEID=317109;CLNDISDB=MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87960892del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Laboratory_Services,Illumina:616189|ClinGen_PTEN_Variant_Curation_Expert_Panel:52ec80f5-412f-477c-9d53-4565fcac6821;GENEINFO=PTEN:5728;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=886047397 10 87960892 142423 A T . . ALLELEID=152137;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87960892A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587782455 10 87960892 7839 AG A . . ALLELEID=22878;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Cowden_syndrome_1|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87960894del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:7fae3512-3b64-4560-8e0f-65a045970149|OMIM_Allelic_Variant:601728.0027;GENEINFO=PTEN:5728;ORIGIN=1;RS=587776672 10 87960922 428268 C G . . ALLELEID=419755;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87960922C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:579af9bf-2984-45d2-8e0a-bd0802a7860b;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=398123329 10 87960933 184466 C G . . ALLELEID=183047;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87960933C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:74ec7748-2294-4f8c-a299-53b2a9c51d35;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=750705904 10 87960974 127693 T G . . AF_ESP=0.00031;AF_EXAC=0.00007;ALLELEID=133150;CLNDISDB=Human_Phenotype_Ontology:HP:0006731,MONDO:MONDO:0008566,MedGen:C0206682,OMIM:188470|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0007924,MedGen:C0265326,Orphanet:ORPHA109|MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:ORPHA3412|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Thyroid_cancer,_nonmedullary,_2|Endometrial_carcinoma|Malignant_tumor_of_prostate|Bannayan-Riley-Ruvalcaba_syndrome|Cutaneous_malignant_melanoma_1|Cowden_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|VACTERL_association_with_hydrocephalus|Macrocephaly/autism_syndrome|Meningioma,_familial|Glioma_susceptibility_2|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87960974T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:ea71ad62-785a-426a-b9bd-7ffff8b8a049|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831412;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143335584 10 87960976 428274 TATGTGATCAAGAAATC G . . ALLELEID=419759;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87960976_87960992delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:f8132715-4506-41cb-a82b-d722fa440f3d;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1114167680 10 87960984 127695 C G . . AF_ESP=0.00023;AF_EXAC=0.00002;ALLELEID=133152;CLNDISDB=Human_Phenotype_Ontology:HP:0006731,MONDO:MONDO:0008566,MedGen:C0206682,OMIM:188470|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0007924,MedGen:C0265326,Orphanet:ORPHA109|MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:ORPHA3412|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016248,MedGen:CN201036,Orphanet:ORPHA213517|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Thyroid_cancer,_nonmedullary,_2|Endometrial_carcinoma|Malignant_tumor_of_prostate|Bannayan-Riley-Ruvalcaba_syndrome|Cutaneous_malignant_melanoma_1|Cowden_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|VACTERL_association_with_hydrocephalus|Macrocephaly/autism_syndrome|Meningioma,_familial|Glioma_susceptibility_2|Hereditary_cancer-predisposing_syndrome|Familial_ovarian_cancer|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87960984C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:304beaf9-04a8-47e9-859a-ceb4b54a57fa;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371387815 10 87960984 187657 C T . . ALLELEID=183051;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87960984C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense;ORIGIN=1;RS=371387815 10 87961006 127696 G A . . ALLELEID=133153;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:ORPHA3412|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174|MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Cowden_syndrome_1|VACTERL_association_with_hydrocephalus|Macrocephaly/autism_syndrome|Meningioma,_familial|Glioma_susceptibility_2|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87961006G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:59aacee3-4abf-400b-9713-4c28e3258b75;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587780007 10 87961039 418653 T C . . ALLELEID=408007;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87961039T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:255886f5-38f4-41db-b167-02609497e697|Geisinger_Autism_and_Developmental_Medicine_Institute,Geisinger_Health_System:ADMI00143;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=9;RS=1064793345 10 87961056 185213 A T . . ALLELEID=183056;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87961056A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:bfdfbf81-6f26-43f8-aa4b-bbb17ebaf54a;GENEINFO=PTEN:5728;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202004 10 87961075 189441 CAAAT C . . ALLELEID=187386;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87961079_87961082del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782304 10 87961119 183722 G A . . ALLELEID=183060;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87961119G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=MutSpliceDB:_a_database_of_splice_sites_variants_effects_on_splicing,NIH:CA000103;GENEINFO=PTEN:5728;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=786201041 10 87961150 92810 T G . . AF_ESP=0.37864;AF_EXAC=0.36991;AF_TGP=0.43251;ALLELEID=98717;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:ORPHA210548|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Macrocephaly/autism_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000010.11:g.87961150T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2188;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=555895 10 87965283 142878 C G . . ALLELEID=152592;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified;CLNHGVS=NC_000010.11:g.87965283C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:3238b347-e5f0-45ed-b567-0d87ea48b9c2;GENEINFO=PTEN:5728;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587782788 10 87965286 372482 G A . . ALLELEID=359852;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87965286G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:1efc38fb-30b6-43c9-b8d5-0f1836b4fb0e;GENEINFO=PTEN:5728;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=1057517809 10 87965309 127687 CAGT C . . ALLELEID=133144;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87965312_87965314del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:ba4a2bab-161e-445b-a38c-7ef4639e08a9;GENEINFO=PTEN:5728;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=587780003 10 87965321 143020 C A . . ALLELEID=152734;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87965321C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841948|ClinGen_PTEN_Variant_Curation_Expert_Panel:e75a40b0-8e18-418e-b6c7-079646958d18;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375709098 10 87965321 142212 C T . . AF_ESP=0.00008;ALLELEID=151926;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87965321C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:88bdf077-351e-40ca-bbdf-1299b17f80e5;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375709098 10 87965338 140777 A G . . AF_EXAC=0.00001;ALLELEID=150491;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN235283|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|none_provided|not_provided;CLNHGVS=NC_000010.11:g.87965338A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854122|ClinGen_PTEN_Variant_Curation_Expert_Panel:7447cf4b-3a7e-436e-94f3-5cbeb5f20d28;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781273 10 87965353 237639 G A . . AF_EXAC=0.00001;ALLELEID=240889;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87965353G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:1ebd3f87-9825-4ccc-aa05-14d1b0b78d24;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=758542021 10 87965364 138835 T C . . AF_ESP=0.00162;AF_EXAC=0.00061;AF_TGP=0.00240;ALLELEID=142538;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87965364T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2191|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:14688|Illumina_Laboratory_Services,Illumina:547410;GENEINFO=PTEN:5728;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35979531 10 87965365 142088 G A . . ALLELEID=151802;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87965365G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:aa730450-8f23-4731-99be-572edc912052;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587782224 10 87965389 421055 TATAG T . . ALLELEID=408010;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_provided;CLNHGVS=NC_000010.11:g.87965393_87965396del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:fd86daf3-07ce-4482-918a-b7dd2d40fd3b;GENEINFO=PTEN:5728;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794878 10 87965431 187673 C T . . ALLELEID=183064;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|not_provided;CLNHGVS=NC_000010.11:g.87965431C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:2353f24f-8466-46ea-838d-a36a749f6a49;GENEINFO=PTEN:5728;MC=SO:0001583|missense_variant;ORIGIN=1;RS=786203911 10 87965472 234144 A T . . ALLELEID=233881;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498;CLNDN=Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome;CLNHGVS=NC_000010.11:g.87965472A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_PTEN_Variant_Curation_Expert_Panel:fc24cd5e-624d-4b84-b652-6f843664f53b;GENEINFO=PTEN:5728;MC=SO:0001578|stop_lost;ORIGIN=1;RS=876660879 10 87965473 189424 AT A . . ALLELEID=187390;CLNDISDB=MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0017623,MedGen:C1959582,Orphanet:ORPHA306498|MedGen:CN169374|MedGen:CN221562;CLNDN=Cowden_syndrome_1|Hereditary_cancer-predisposing_syndrome|PTEN_hamartoma_tumor_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000010.11:g.87965482del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PTEN:5728;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=756681683 10 94645745 225947 G A . . AF_TGP=0.24541;ALLELEID=227769;CLNDISDB=MedGen:CN236549;CLNDN=warfarin_response_-_Dosage;CLNHGVS=NC_000010.11:g.94645745G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:982030369PA451906|PharmGKB:982030369|PharmGKB_Clinical_Annotation:982030369;ORIGIN=1;RS=12777823 10 110964358 40634 C T . . AF_EXAC=0.00001;ALLELEID=49104;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000010.11:g.110964358C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:7390e608-04b8-42c9-b7d9-27c20be71622;GENEINFO=SHOC2:8036;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=398124252 10 110964362 6821 A G . . ALLELEID=21860;CLNDISDB=MONDO:MONDO:0011899,MedGen:C1843181,OMIM:PS607721,Orphanet:ORPHA2701|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Noonan_syndrome-like_disorder_with_loose_anagen_hair|Noonan_syndrome|Rasopathy|Noonan_syndrome-like_disorder_with_loose_anagen_hair_1|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000010.11:g.110964362A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab),_CHU_de_Nantes:CLIN0147|ClinGen_RASopathy_Variant_Curation_Expert_Panel:39b0e509-abdb-415d-87bd-98b7310bb1c0|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:126361|UniProtKB_(protein):Q9UQ13#VAR_060199|OMIM_Allelic_Variant:602775.0001;GENEINFO=SHOC2:8036;MC=SO:0001583|missense_variant;ORIGIN=33;RS=267607048 10 110964368 40635 A C . . AF_EXAC=0.00044;ALLELEID=49105;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|Noonan_syndrome-like_disorder_with_loose_anagen_hair_1|not_specified|not_provided;CLNHGVS=NC_000010.11:g.110964368A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:f8ec95a4-b09f-4a17-984e-06b4098449c2|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1567968;GENEINFO=SHOC2:8036;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397517231 10 110964396 181526 A C . . ALLELEID=179140;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721|MedGen:CN517202;CLNDN=Rasopathy|Noonan_syndrome-like_disorder_with_loose_anagen_hair_1|not_provided;CLNHGVS=NC_000010.11:g.110964396A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:f83b1020-86c7-4755-94be-9a1eabb874c4|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:63674;GENEINFO=SHOC2:8036;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730881018 10 110964721 448931 G A . . AF_ESP=0.00031;AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=442528;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000010.11:g.110964721G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:868dd09f-5604-4c92-83c0-bf8fa7edd5f2;GENEINFO=SHOC2:8036;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115713408 10 110964735 448932 C T . . AF_ESP=0.00015;AF_EXAC=0.00007;ALLELEID=442529;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000010.11:g.110964735C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:d94b82b8-4e72-4968-9e10-08d187667aa6;GENEINFO=SHOC2:8036;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138375593 10 110964815 139104 C T . . AF_ESP=0.01292;AF_EXAC=0.01221;AF_TGP=0.00639;ALLELEID=142807;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721|MedGen:CN169374;CLNDN=Rasopathy|Noonan_syndrome-like_disorder_with_loose_anagen_hair_1|not_specified;CLNHGVS=NC_000010.11:g.110964815C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:49752|Illumina_Laboratory_Services,Illumina:137640|ClinGen_RASopathy_Variant_Curation_Expert_Panel:8e46fe32-f801-413d-8145-c24fea550548;GENEINFO=SHOC2:8036;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34081996 10 110964877 181528 G A . . ALLELEID=179142;CLNDISDB=Human_Phenotype_Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:ORPHA363999,SNOMED_CT:276509008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Non-immune_hydrops_fetalis|Rasopathy|Noonan_syndrome-like_disorder_with_loose_anagen_hair_1|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000010.11:g.110964877G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602775.0002|UniProtKB_(protein):Q9UQ13#VAR_074030|ClinGen_RASopathy_Variant_Curation_Expert_Panel:6b6330b2-05be-48be-a7e9-3e8e77d8e63b;GENEINFO=SHOC2:8036;MC=SO:0001583|missense_variant;ORIGIN=33;RS=730881020 10 110964924 830079 A T . . ALLELEID=818440;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000010.11:g.110964924A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:cfe4649b-118d-4271-88f3-f0ef6ea17208;GENEINFO=SHOC2:8036;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1847644218 10 110964971 448933 A G . . AF_EXAC=0.00009;ALLELEID=442530;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000010.11:g.110964971A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:795ea8ea-3f7d-49cf-b7e6-d4efa4eb47e5;GENEINFO=SHOC2:8036;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768411950 10 111000459 448934 C T . . AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=442531;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000010.11:g.111000459C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b9bd11c9-4ef4-497e-a366-486d58683e19;GENEINFO=SHOC2:8036;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=199723694 10 111000467 448935 A C . . AF_EXAC=0.00007;ALLELEID=442532;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000010.11:g.111000467A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:427ef48f-bd18-4b28-9163-b6b6a922ccc8;GENEINFO=SHOC2:8036;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=767912952 10 111009265 139108 C T . . AF_ESP=0.00200;AF_EXAC=0.00083;AF_TGP=0.00459;ALLELEID=142811;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000010.11:g.111009265C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ba4e5908-3b34-42d0-8df7-f0b029ff11e2;GENEINFO=SHOC2:8036;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=146147503 10 111009706 139109 C T . . AF_ESP=0.00500;AF_EXAC=0.00193;AF_TGP=0.00559;ALLELEID=142812;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721|MedGen:CN169374;CLNDN=Rasopathy|Noonan_syndrome-like_disorder_with_loose_anagen_hair_1|not_specified;CLNHGVS=NC_000010.11:g.111009706C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:302072|ClinGen_RASopathy_Variant_Curation_Expert_Panel:20c12a82-b03f-42bd-b0e7-cded270a1ecd;GENEINFO=SHOC2:8036;MC=SO:0001627|intron_variant;ORIGIN=1;RS=180671383 10 111009838 448937 C A . . ALLELEID=442533;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000010.11:g.111009838C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2f985b45-4b2f-4cf7-9c5f-216b9c6f4426;GENEINFO=SHOC2:8036;MC=SO:0001627|intron_variant;ORIGIN=1;RS=771283010 10 111009838 448936 C T . . ALLELEID=442534;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000010.11:g.111009838C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:f1d3c01f-a03b-43fe-9292-f016ee2c4a44;GENEINFO=SHOC2:8036;MC=SO:0001627|intron_variant;ORIGIN=1;RS=771283010 10 111011663 139110 A G . . AF_ESP=0.00484;AF_EXAC=0.00119;AF_TGP=0.00439;ALLELEID=142813;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0054637,MedGen:C4478716,OMIM:607721|MedGen:CN169374;CLNDN=Rasopathy|Noonan_syndrome-like_disorder_with_loose_anagen_hair_1|not_specified;CLNHGVS=NC_000010.11:g.111011663A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:746977|ClinGen_RASopathy_Variant_Curation_Expert_Panel:1bcfceba-23f2-4e97-8281-791f9602856c;GENEINFO=SHOC2:8036;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=145463534 11 532686 40448 G A . . AF_EXAC=0.00017;ALLELEID=48918;CLNDISDB=Human_Phenotype_Ontology:HP:0005600,Human_Phenotype_Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:ORPHA626|Human_Phenotype_Ontology:HP:0006731,MONDO:MONDO:0008566,MedGen:C0206682,OMIM:188470|Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,SNOMED_CT:25201003|Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:ORPHA2612,SNOMED_CT:52298009|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED_CT:399326009|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Large_congenital_melanocytic_nevus|Thyroid_cancer,_nonmedullary,_2|Epidermal_nevus|Linear_sebaceous_nevus_sequence|Malignant_tumor_of_urinary_bladder|Costello_syndrome|Rasopathy|not_specified;CLNHGVS=NC_000011.10:g.532686G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:d37c8250-6a81-4f7a-b0df-8e5eb3216e8a;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397517144 11 532696 45305 C T . . AF_EXAC=0.00003;ALLELEID=54472;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Costello_syndrome|Rasopathy|not_specified;CLNHGVS=NC_000011.10:g.532696C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9a40f720-b52f-4f73-b00a-f4480714a568;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397517143 11 532698 40447 T A . . AF_ESP=0.00015;AF_EXAC=0.00003;ALLELEID=48917;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN517202;CLNDN=Costello_syndrome|not_provided;CLNHGVS=NC_000011.10:g.532698T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:073e5f90-a343-456a-b175-656a2f84718f;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001587|nonsense,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=372936166 11 532729 40446 C T . . AF_ESP=0.00277;AF_EXAC=0.00136;AF_TGP=0.00060;ALLELEID=48916;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Costello_syndrome|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000011.10:g.532729C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148612|ClinGen_RASopathy_Variant_Curation_Expert_Panel:e93d3e64-ccf6-4e9a-814f-910533bb7473;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=140060409 11 533301 830080 TGGGTCCCGGGGGGTCCCAGA T . . ALLELEID=818441;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000011.10:g.533311_533330del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:d087da2c-a8d8-4831-9a95-aceb4c5528b4;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=776060230 11 533491 45304 C T . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=54471;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Costello_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000011.10:g.533491C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:7b1915f1-7c70-4f7b-afa5-d08962f3c012;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=397517142 11 533525 40442 T C . . AF_EXAC=0.00021;AF_TGP=0.00020;ALLELEID=48912;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Costello_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000011.10:g.533525T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:33df4a63-9662-4572-ab6f-22dc7b693309;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=397517140 11 533534 259747 G A . . AF_EXAC=0.00011;AF_TGP=0.00060;ALLELEID=254209;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Costello_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000011.10:g.533534G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9e4a0dd5-6d53-4e7d-99ad-b4372dc64dd9;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=200945755 11 533546 40441 G A . . AF_ESP=0.00108;AF_EXAC=0.00095;AF_TGP=0.00080;ALLELEID=48911;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Costello_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000011.10:g.533546G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:4da936bb-53cd-4fad-8d47-40c90dc60a73;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=111352454 11 533553 12605 T C . . ALLELEID=27644;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN517202;CLNDN=Costello_syndrome|not_provided;CLNHGVS=NC_000011.10:g.533553T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:190020.0006|UniProtKB_(protein):P01112#VAR_045981|ClinGen_RASopathy_Variant_Curation_Expert_Panel:42e841f0-7121-4d9d-a2ae-ebc27adacd88;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant;ORIGIN=33;RS=104894227 11 533594 40440 C T . . AF_EXAC=0.00008;AF_TGP=0.00060;ALLELEID=48910;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Costello_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000011.10:g.533594C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b7f7a482-5a60-4da9-8e99-433b8dea636b;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=575789207 11 533618 448926 A C . . AF_EXAC=0.00012;ALLELEID=442535;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Costello_syndrome|Rasopathy|not_specified;CLNHGVS=NC_000011.10:g.533618A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:24881ada-4882-44bc-80b5-48408f7b3e0f;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001627|intron_variant;ORIGIN=1;RS=766909143 11 533779 40439 T C . . ALLELEID=48909;CLNDISDB=Human_Phenotype_Ontology:HP:0001642,MONDO:MONDO:0009938,MedGen:C1956257,OMIM:265500|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:ORPHA3193,SNOMED_CT:268185002|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN517202;CLNDN=Pulmonic_stenosis|Supravalvar_aortic_stenosis|Costello_syndrome|not_provided;CLNHGVS=NC_000011.10:g.533779T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:f12837d2-3463-4374-982c-98e2b63c406a;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782949 11 533799 40437 T G . . AF_ESP=0.00023;AF_EXAC=0.00023;AF_TGP=0.00040;ALLELEID=48907;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Costello_syndrome|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000011.10:g.533799T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:78394|ClinGen_RASopathy_Variant_Curation_Expert_Panel:7a67f8eb-da68-4c6b-9d98-ee169176af3c;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=17;RS=138272051 11 533881 40435 C T . . ALLELEID=48905;CLNDISDB=Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131,SNOMED_CT:254637007|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008;CLNDN=Non-small_cell_lung_carcinoma|Costello_syndrome;CLNHGVS=NC_000011.10:g.533881C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2bb21939-344a-41a8-be46-3787926538b9;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=727503093 11 533883 12610 G A . . ALLELEID=27649;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008;CLNDN=Costello_syndrome;CLNHGVS=NC_000011.10:g.533883G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:190020.0011|ClinGen_RASopathy_Variant_Curation_Expert_Panel:4fa14d9d-3bce-4dd8-affa-771b6298c4fc|UniProtKB_(protein):P01112#VAR_045978;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121917758 11 534242 40431 A G . . AF_ESP=0.35453;AF_EXAC=0.31352;AF_TGP=0.29712;ALLELEID=48901;CLNDISDB=Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Squamous_cell_lung_carcinoma|Costello_syndrome|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000011.10:g.534242A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM035804|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:38028|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:HRAS-A2|ClinGen_RASopathy_Variant_Curation_Expert_Panel:c23db7a4-fb09-4dd7-9ab1-e7f4dfc7dbe9;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=12628 11 534286 12606 C A . . ALLELEID=27645;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0005600,Human_Phenotype_Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:ORPHA626|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006731,MONDO:MONDO:0008566,MedGen:C0206682,OMIM:188470|Human_Phenotype_Ontology:HP:0006739,Human_Phenotype_Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,SNOMED_CT:25201003|Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:ORPHA2612,SNOMED_CT:52298009|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED_CT:399326009|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:C0153574|MedGen:CN517202;CLNDN=Hepatocellular_carcinoma|Acute_myeloid_leukemia|Neoplasm|B-cell_chronic_lymphocytic_leukemia|Large_congenital_melanocytic_nevus|Pancreatic_adenocarcinoma|Thyroid_cancer,_nonmedullary,_2|Squamous_cell_carcinoma_of_the_skin|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Breast_neoplasm|Epidermal_nevus|Linear_sebaceous_nevus_sequence|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_the_thyroid_gland|Neoplasm_of_the_large_intestine|Malignant_tumor_of_urinary_bladder|Costello_syndrome|Squamous_cell_carcinoma_of_the_head_and_neck|Noonan_syndrome|Rasopathy|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000011.10:g.534286C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:190020.0007|ClinGen_RASopathy_Variant_Curation_Expert_Panel:77fd6395-3146-46f0-86ca-08fb626eb660|UniProtKB_(protein):P01112#VAR_026107;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=35;RS=104894228 11 534287 222076 G A . . AF_EXAC=0.00007;ALLELEID=223774;CLNDISDB=MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Costello_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000011.10:g.534287G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:983c5b9a-3d66-4c13-b328-8b9ab7c22543;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=727504424 11 534289 12602 C T . . ALLELEID=27641;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006739,Human_Phenotype_Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010815,MedGen:C3854181|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087|Human_Phenotype_Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:ORPHA79414|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0023644,MedGen:C0220641|MeSH:C538614,MedGen:C1336078|MeSH:D030342,MedGen:C0950123|MedGen:C0153574|MedGen:C1968782|MedGen:C3277679|MedGen:CN235283|MedGen:CN517202;CLNDN=Hepatocellular_carcinoma|Acute_myeloid_leukemia|Rhabdomyosarcoma|Pancreatic_adenocarcinoma|Squamous_cell_carcinoma_of_the_skin|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Breast_neoplasm|Nevus_sebaceous|Carcinoma_of_esophagus|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_the_thyroid_gland|Nasopharyngeal_Neoplasms|Neoplasm_of_the_large_intestine|Adenoid_cystic_carcinoma|Adenocarcinoma_of_prostate|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Costello_syndrome|Squamous_cell_carcinoma_of_the_head_and_neck|Glioblastoma|Myelodysplastic_syndrome|Nevus,_woolly_hair|Rasopathy|Lip_and_oral_cavity_carcinoma|Papillary_renal_cell_carcinoma,_sporadic|Inborn_genetic_diseases|Malignant_neoplasm_of_body_of_uterus|Myopathy,_congenital,_with_excess_of_muscle_spindles|Epidermal_nevus_with_urothelial_cancer,_somatic|none_provided|not_provided;CLNHGVS=NC_000011.10:g.534289C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P01112#VAR_006837|HGMD:CM053283|OMIM_Allelic_Variant:190020.0003|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:HRAS-A1|ClinGen_RASopathy_Variant_Curation_Expert_Panel:51947641-2e77-498f-93d6-ca73b8e343de|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:149306;GENEINFO=HRAS:3265|LRRC56:115399;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=35;RS=104894229 11 77142709 802700 G A . . AF_ESP=0.00024;AF_EXAC=0.00018;AF_TGP=0.00040;ALLELEID=791171;CLNDISDB=MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_2|Nonsyndromic_hearing_loss_and_deafness|not_provided;CLNHGVS=NC_000011.10:g.77142709G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=372509310 11 77155945 43201 C T . . AF_EXAC=0.00153;AF_TGP=0.00280;ALLELEID=52371;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Deafness,_autosomal_dominant_11|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.77155945C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:107874;GENEINFO=MYO7A:4647;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=116892396 11 77156022 43230 T A . . AF_EXAC=0.00003;ALLELEID=52400;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN239407|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Retinal_dystrophy|Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|MYO7A-Related_Disorders|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.77156022T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1720439|UniProtKB_(protein):Q13402#VAR_024042;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033181 11 77156900 43325 A G . . AF_EXAC=0.00002;ALLELEID=52495;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0700087,MedGen:C2931206;CLNDN=Retinal_dystrophy|Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|Usher_syndrome_type_1B;CLNHGVS=NC_000011.10:g.77156900A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033486 11 77158332 11852 G A . . AF_TGP=0.00140;ALLELEID=26891;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Deafness,_autosomal_dominant_11|Usher_syndrome|Usher_syndrome_type_1B|not_specified|not_provided;CLNHGVS=NC_000011.10:g.77158332G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q13402#VAR_009324|Illumina_Laboratory_Services,Illumina:686049|OMIM_Allelic_Variant:276903.0006;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41298135 11 77158404 164664 T A . . ALLELEID=176880;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290|MedGen:CN239407|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|Deafness,_autosomal_recessive|MYO7A-Related_Disorders|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.77158404T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1358739;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=5;RS=797044491 11 77159450 43134 G A . . AF_ESP=0.00147;AF_EXAC=0.00115;AF_TGP=0.00120;ALLELEID=52304;CLNDISDB=MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000,SNOMED_CT:13445001|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN169374|MedGen:CN517202;CLNDN=Meniere_disease|Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Deafness,_autosomal_dominant_11|Usher_syndrome|Usher_syndrome_type_1B|not_specified|not_provided;CLNHGVS=NC_000011.10:g.77159450G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:49255;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=45629132 11 77160265 555138 C T . . AF_EXAC=0.00000;ALLELEID=546404;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Nonsyndromic_hearing_loss_and_deafness|Deafness,_autosomal_recessive|not_provided;CLNHGVS=NC_000011.10:g.77160265C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=5;RS=782279338 11 77160980 178667 A G . . ALLELEID=178248;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.77160980A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=797044511 11 77172767 517357 G A . . AF_EXAC=0.00015;ALLELEID=508743;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Deafness,_autosomal_dominant_11|Nonsyndromic_hearing_loss_and_deafness|Usher_syndrome_type_1B|not_specified|not_provided;CLNHGVS=NC_000011.10:g.77172767G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:648506;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=782311929 11 77172799 438172 T C . . AF_EXAC=0.00005;ALLELEID=431763;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|Deafness,_autosomal_recessive;CLNHGVS=NC_000011.10:g.77172799T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=5;RS=782063761 11 77174817 556881 G A . . AF_EXAC=0.00001;ALLELEID=546425;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|not_provided;CLNHGVS=NC_000011.10:g.77174817G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=782396605 11 77179843 177732 G A . . AF_ESP=0.00026;AF_EXAC=0.00392;AF_TGP=0.00180;ALLELEID=178187;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN169374|MedGen:CN239407|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Deafness,_autosomal_dominant_11|Usher_syndrome|Usher_syndrome_type_1B|not_specified|MYO7A-Related_Disorders|not_provided;CLNHGVS=NC_000011.10:g.77179843G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:550766|UniProtKB_(protein):Q13402#VAR_009332;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=5;RS=368341987 11 77179894 43185 G A . . AF_ESP=0.00028;AF_EXAC=0.00086;AF_TGP=0.00080;ALLELEID=52355;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Deafness,_autosomal_dominant_11|Usher_syndrome|not_specified|not_provided;CLNHGVS=NC_000011.10:g.77179894G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:262910;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140559111 11 77179925 43186 G A . . ALLELEID=52356;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Deafness,_autosomal_dominant_11|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.77179925G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033437 11 77184703 229012 G A . . AF_EXAC=0.00003;ALLELEID=231427;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN169374|MedGen:CN239407|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|not_specified|MYO7A-Related_Disorders|not_provided;CLNHGVS=NC_000011.10:g.77184703G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=782350886 11 77184715 179479 G A . . ALLELEID=178280;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000011.10:g.77184715G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=797044516 11 77184725 43207 GGGAGGCGGGGACACCAGGGCCT G . . ALLELEID=52377;CLNDISDB=MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_2|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.77184727_77184748del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1662548;GENEINFO=MYO7A:4647;ORIGIN=1;RS=111033223 11 77189367 196099 G A . . AF_ESP=0.00008;AF_EXAC=0.00009;ALLELEID=193260;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Retinal_dystrophy|Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|not_provided;CLNHGVS=NC_000011.10:g.77189367G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373147966 11 77189386 438177 C A . . ALLELEID=431766;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|not_provided;CLNHGVS=NC_000011.10:g.77189386C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555090294 11 77190773 178283 C T . . AF_ESP=0.00008;AF_EXAC=0.00006;ALLELEID=175222;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.77190773C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369458838 11 77192241 224749 T G . . ALLELEID=226532;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886;CLNDN=Retinal_dystrophy|Usher_syndrome_type_1|Usher_syndrome;CLNHGVS=NC_000011.10:g.77192241T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=869312181 11 77205599 43292 G A . . AF_EXAC=0.00002;ALLELEID=52462;CLNDISDB=MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Deafness,_autosomal_recessive_2|Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.77205599G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516322 11 77207350 43298 T C . . ALLELEID=52468;CLNDISDB=Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:ORPHA71862,SNOMED_CT:314407005|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Retinal_dystrophy|Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.77207350T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516323 11 77211162 228282 A G . . ALLELEID=230249;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|Usher_syndrome_type_1B|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.77211162A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876657655 11 77211909 164724 C T . . AF_ESP=0.00015;AF_EXAC=0.00005;ALLELEID=175524;CLNDISDB=MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Usher_syndrome|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.77211909C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377670513 11 77214608 43335 G A . . ALLELEID=52505;CLNDISDB=MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:ORPHA231169|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:ORPHA886|MONDO:MONDO:0700087,MedGen:C2931206;CLNDN=Usher_syndrome_type_1|Deafness,_autosomal_recessive_2|Usher_syndrome|Usher_syndrome_type_1B;CLNHGVS=NC_000011.10:g.77214608G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q13402#VAR_024055;GENEINFO=MYO7A:4647;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516332 11 121113065 229304 C G . . AF_ESP=0.00008;AF_EXAC=0.00008;ALLELEID=229966;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.121113065C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001627|intron_variant;ORIGIN=1;RS=368627411 11 121113629 178532 A G . . AF_ESP=0.00138;AF_EXAC=0.00050;AF_TGP=0.00140;ALLELEID=175072;CLNDISDB=MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_dominant_12|Deafness,_autosomal_recessive_21|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.121113629A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:115520;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144682235 11 121118626 45314 A G . . AF_ESP=0.49731;AF_EXAC=0.40297;AF_TGP=0.44329;ALLELEID=54481;CLNDISDB=MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374;CLNDN=Deafness,_autosomal_dominant_12|Deafness,_autosomal_recessive_21|Nonsyndromic_hearing_loss_and_deafness|not_specified;CLNHGVS=NC_000011.10:g.121118626A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:9072|UniProtKB_(protein):O75443#VAR_018968;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001583|missense_variant;ORIGIN=1;RS=612969 11 121125534 178638 C T . . AF_ESP=0.00185;AF_EXAC=0.00161;AF_TGP=0.00319;ALLELEID=175075;CLNDISDB=MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_dominant_12|Deafness,_autosomal_recessive_21|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.121125534C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:480671;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35107075 11 121128038 45317 C G . . AF_ESP=0.00200;AF_EXAC=0.00168;ALLELEID=54484;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Hearing_impairment|Deafness,_autosomal_dominant_12|Deafness,_autosomal_recessive_21|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.121128038C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:74005|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_1180;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139165033 11 121137576 178538 C T . . AF_ESP=0.00108;AF_EXAC=0.00039;AF_TGP=0.00160;ALLELEID=175360;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.121137576C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:180867;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142486386 11 121137971 178539 C T . . AF_ESP=0.00138;AF_EXAC=0.00050;AF_TGP=0.00120;ALLELEID=175361;CLNDISDB=MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Deafness,_autosomal_dominant_12|Deafness,_autosomal_recessive_21|Nonsyndromic_hearing_loss_and_deafness|not_specified|none_provided|not_provided;CLNHGVS=NC_000011.10:g.121137971C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:129136;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144012985 11 121146015 287165 G A . . AF_ESP=0.00123;AF_EXAC=0.00033;AF_TGP=0.00080;ALLELEID=271402;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.121146015G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148619105 11 121146096 498538 G A . . AF_EXAC=0.00003;ALLELEID=489962;CLNDISDB=MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Deafness,_autosomal_dominant_12|Deafness,_autosomal_recessive_21|Nonsyndromic_hearing_loss_and_deafness|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000011.10:g.121146096G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:883840;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001587|nonsense;ORIGIN=1;RS=199638531 11 121168762 165370 T C . . AF_ESP=0.00054;AF_EXAC=0.00040;AF_TGP=0.00060;ALLELEID=175091;CLNDISDB=MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_dominant_12|Deafness,_autosomal_recessive_21|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000011.10:g.121168762T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132892|Illumina_Laboratory_Services,Illumina:706089;GENEINFO=TECTA:7007|TBCEL-TECTA:116804918;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144343770 12 21178615 37346 T C . . AF_ESP=0.11495;AF_EXAC=0.12943;AF_TGP=0.08766;ALLELEID=40587;CLNDISDB=.|.|.|.|.|.|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500,SNOMED_CT:27503000|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:ORPHA3111,SNOMED_CT:32891000|MedGen:CN169374|MedGen:CN517202;CLNDN=atorvastatin_response_-_Metabolism/PK|atorvastatin_response_-_Toxicity|hmg_coa_reductase_inhibitors_response_-_Toxicity|rosuvastatin_response_-_Metabolism/PK|simvastatin_acid_response_-_Metabolism/PK|simvastatin_response_-_Toxicity|Gilbert_syndrome|Rotor_syndrome|not_specified|not_provided;CLNHGVS=NC_000012.12:g.21178615T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:16040|PharmGKB:981345382PA133950441|PharmGKB:981345350|Illumina_Laboratory_Services,Illumina:10048|PharmGKB_Clinical_Annotation:981345350|PharmGKB_Clinical_Annotation:981345293|PharmGKB:981345293|PharmGKB:655384011|PharmGKB:981345350PA134308647|PharmGKB:655384011PA451363|PharmGKB_Clinical_Annotation:981345382|PharmGKB_Clinical_Annotation:981344897|PharmGKB:981345293PA451089|PharmGKB:981344897PA448897|PharmGKB:1449556772PA166129446|PharmGKB:981345382|PharmGKB:981344897|UniProtKB_(protein):Q9Y6L6#VAR_015076|PharmGKB_Clinical_Annotation:655384011;GENEINFO=SLCO1B1:10599;MC=SO:0001583|missense_variant;ORIGIN=5;RS=4149056 12 25209828 45129 TTTC T . . ALLELEID=54296;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000012.12:g.25209831CTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:54ddcd15-893f-4be1-9525-18126097d55a;GENEINFO=KRAS:3845;MC=SO:0001822|inframe_deletion,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397517043 12 25209843 41449 A G . . AF_ESP=0.20077;AF_EXAC=0.19690;AF_TGP=0.17552;ALLELEID=49887;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000012.12:g.25209843A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ecd3287d-e567-4c6a-ad88-0fcb872a517d|Illumina_Laboratory_Services,Illumina:49734;GENEINFO=KRAS:3845;MC=SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1137282 12 25209854 180859 T A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=179458;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000012.12:g.25209854T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:77516727-ce20-4572-a118-1fa6f09a2a32;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=369501492 12 25209904 12587 T A . . ALLELEID=27626;CLNDISDB=Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:ORPHA46724,SNOMED_CT:234142008|Human_Phenotype_Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:ORPHA2612,SNOMED_CT:52298009|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED_CT:399326009|MONDO:MONDO:0005138,MedGen:C0684249|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114|MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=Acute_myeloid_leukemia|Cerebral_arteriovenous_malformation|Linear_sebaceous_nevus_sequence|Malignant_tumor_of_urinary_bladder|Lung_carcinoma|Carcinoma_of_pancreas|Hereditary_diffuse_gastric_cancer|Noonan_syndrome_3|RAS-associated_autoimmune_leukoproliferative_disorder|Cardiofaciocutaneous_syndrome_2|Cardio-facio-cutaneous_syndrome|Familial_cancer_of_breast|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000012.12:g.25209904T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:190070.0015|OMIM_Allelic_Variant:190070.0010|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:154427|ClinGen_RASopathy_Variant_Curation_Expert_Panel:583866a1-1915-4ccd-bc75-8672ca18c8e4;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=33;RS=104894360 12 25209925 138060 A G . . AF_ESP=0.00031;AF_EXAC=0.00003;ALLELEID=141763;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000012.12:g.25209925A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:8ec28790-8df3-4c37-9e77-84dddf694f7a;GENEINFO=KRAS:3845;MC=SO:0001627|intron_variant;ORIGIN=1;RS=372508498 12 25227330 438796 C A . . ALLELEID=432423;CLNDISDB=MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Noonan_syndrome_3|Rasopathy;CLNHGVS=NC_000012.12:g.25227330C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1555194026 12 25227346 12586 C G . . ALLELEID=27625;CLNDISDB=MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_2|Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000012.12:g.25227346C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P01116#VAR_026112|OMIM_Allelic_Variant:190070.0009|ClinGen_RASopathy_Variant_Curation_Expert_Panel:a8c6153e-d737-4b86-8d68-caf8ddd418fd;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant;ORIGIN=1;RS=104894359 12 25227351 12588 G A . . ALLELEID=27627;CLNDISDB=MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_3|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.25227351G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:be68e302-48f4-4cb4-80a8-915ac3fff981|UniProtKB_(protein):P01116#VAR_026111|OMIM_Allelic_Variant:190070.0011;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant;ORIGIN=1;RS=104894364 12 25245284 40454 G A . . ALLELEID=48924;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.25245284G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:bf62d2f1-6047-4d6b-9cb9-dfdab291cdfb|UniProtKB_(protein):P01116#VAR_064852;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant;ORIGIN=1;RS=104894366 12 25245295 138061 G A . . AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=141764;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000012.12:g.25245295G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:68557210-74f7-4a1b-90d6-38f877f1a54a;GENEINFO=KRAS:3845;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=113623140 12 25245320 40452 T C . . ALLELEID=48922;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Noonan_syndrome_3|Cardiofaciocutaneous_syndrome_2|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000012.12:g.25245320T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_815|ClinGen_RASopathy_Variant_Curation_Expert_Panel:f148a4b1-945e-4dc1-8d90-77bc00006052|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:144127|UniProtKB_(protein):P01116#VAR_064851;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant;ORIGIN=33;RS=727503110 12 25245345 12589 C T . . AF_EXAC=0.00001;ALLELEID=27628;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Noonan_syndrome_3|Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|Inborn_genetic_diseases|none_provided|not_provided;CLNHGVS=NC_000012.12:g.25245345C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2205165|UniProtKB_(protein):P01116#VAR_026109|ClinGen_RASopathy_Variant_Curation_Expert_Panel:e103be05-5fbf-42b0-b4a8-809da2f2181d|OMIM_Allelic_Variant:190070.0012;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant;ORIGIN=3;RS=104894365 12 25245361 45119 T C . . AF_ESP=0.00015;AF_EXAC=0.00037;ALLELEID=54286;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000012.12:g.25245361T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:56c9c209-4dc1-4b23-8b13-5e4465526b77;GENEINFO=KRAS:3845;MC=SO:0001819|synonymous_variant;ORIGIN=3;RS=147406419 12 25245370 12594 T A . . ALLELEID=27633;CLNDISDB=MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_2|Noonan_syndrome|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000012.12:g.25245370T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:190070.0017|HGMD:CM070963|UniProtKB_(protein):P01116#VAR_064849|ClinGen_RASopathy_Variant_Curation_Expert_Panel:15c2f120-e3bd-4bf0-8ecb-86290c93de7c;GENEINFO=KRAS:3845;MC=SO:0001583|missense_variant;ORIGIN=1;RS=104894361 12 25250899 163771 T C . . ALLELEID=175718;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Noonan_syndrome|Rasopathy|not_specified;CLNHGVS=NC_000012.12:g.25250899T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:314b9d63-58ac-4c72-a617-acc0ca7dfa74|Illumina_Laboratory_Services,Illumina:793616;GENEINFO=KRAS:3845;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=727503111 12 102839031 657680 T C . . AF_TGP=0.00339;ALLELEID=640583;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102839031T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:750287;GENEINFO=PAH:5053;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=375319584 12 102839156 255733 C A . . AF_ESP=0.00100;AF_EXAC=0.00216;AF_TGP=0.00260;ALLELEID=254389;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374;CLNDN=Phenylketonuria|not_specified;CLNHGVS=NC_000012.12:g.102839156C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=372637021 12 102839172 194161 GCTTTA G . . ALLELEID=191324;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102839173CTTTA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=PAH:5053;MC=SO:0001578|stop_lost,SO:0001589|frameshift_variant;ORIGIN=1;RS=794727086 12 102839216 932274 C A . . ALLELEID=920555;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102839216C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1874485021 12 102839219 635216 C T . . ALLELEID=623050;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102839219C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=33;RS=1592944816 12 102839220 932265 T G . . ALLELEID=920556;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102839220T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=760830761 12 102839253 102592 G A . . AF_ESP=0.01845;AF_EXAC=0.01625;AF_TGP=0.01058;ALLELEID=108328;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102839253G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS12-35C>T;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62509021 12 102840394 102590 A T . . ALLELEID=108326;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840394A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.IVS12+6T>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508650 12 102840395 872836 C G . . ALLELEID=860992;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840395C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1874533541 12 102840395 555797 CTTACTG C . . ALLELEID=546890;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840399_102840404del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1334974448 12 102840396 102589 T C . . ALLELEID=108325;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840396T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.IVS12+4A>G;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508649 12 102840398 102588 A G . . ALLELEID=108324;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840398A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS12+2T>C;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1799970 12 102840399 370074 C A . . ALLELEID=358082;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840399C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=5030861 12 102840399 576 C T . . AF_ESP=0.00077;AF_EXAC=0.00035;ALLELEID=15615;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Phenylketonuria|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000012.12:g.102840399C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2557232|OMIM_Allelic_Variant:612349.0001|DeBelle_Laboratory_for_Biochemical_Genetics:IVS12+1G>A|Illumina_Laboratory_Services,Illumina:872585;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=5030861 12 102840403 932270 T C . . ALLELEID=920557;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840403T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874535103 12 102840408 932273 GA G . . ALLELEID=920558;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840410del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1874535712 12 102840411 625291 T A . . ALLELEID=613618;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840411T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1592945394 12 102840414 1327550 G A . . ALLELEID=1318154;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840414G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102840426 102585 A G . . ALLELEID=108321;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840426A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_001041|DeBelle_Laboratory_for_Biochemical_Genetics:p.L430P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475607 12 102840430 551555 G T . . ALLELEID=546570;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840430G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764974157 12 102840432 1185010 TG T . . ALLELEID=1174949;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840435del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1 12 102840437 92732 A G . . AF_ESP=0.04652;AF_EXAC=0.01362;AF_TGP=0.04653;ALLELEID=98639;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102840437A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831732|DeBelle_Laboratory_for_Biochemical_Genetics:p.N426N|Illumina_Laboratory_Services,Illumina:114545;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=59326968 12 102840444 102584 A G . . ALLELEID=108320;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840444A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L424S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475670 12 102840444 987757 A T . . ALLELEID=975730;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840444A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=199475670 12 102840451 102583 C T . . ALLELEID=108319;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840451C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.E422K;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475621 12 102840453 639999 A C . . ALLELEID=640584;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840453A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475696 12 102840453 102582 A G . . AF_EXAC=0.00001;ALLELEID=108318;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840453A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.I421T;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475696 12 102840456 932268 C A . . AF_EXAC=0.00001;ALLELEID=920559;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840456C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767075719 12 102840459 552488 T C . . AF_EXAC=0.00002;ALLELEID=547131;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840459T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752255985 12 102840463 102580 T G . . ALLELEID=108316;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840463T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.T418P|UniProtKB_(protein):P00439#VAR_001040;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644501 12 102840465 1327551 T C . . ALLELEID=1318155;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840465T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102840466 1327552 A C . . ALLELEID=1318156;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840466A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102840468 558091 G T . . ALLELEID=546573;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840468G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1445893088 12 102840469 987913 G T . . ALLELEID=975886;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840469G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874541064 12 102840472 1327547 C A . . ALLELEID=1318151;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840472C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102840472 617 C T . . AF_EXAC=0.00006;ALLELEID=15656;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840472C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840561|DeBelle_Laboratory_for_Biochemical_Genetics:p.D415N|UniProtKB_(protein):P00439#VAR_001039|OMIM_Allelic_Variant:612349.0043|Illumina_Laboratory_Services,Illumina:828996;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644499 12 102840473 102577 G A . . AF_ESP=0.00992;AF_EXAC=0.00799;AF_TGP=0.00280;ALLELEID=108313;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102840473G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2666387|DeBelle_Laboratory_for_Biochemical_Genetics:p.Y414Y|Illumina_Laboratory_Services,Illumina:84863;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1801152 12 102840474 593 T C . . AF_EXAC=0.00049;AF_TGP=0.00020;ALLELEID=15632;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840474T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830416|UniProtKB_(protein):P00439#VAR_001038|DeBelle_Laboratory_for_Biochemical_Genetics:p.Y414C|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_1188|HGMD:CM910294|OMIM_Allelic_Variant:612349.0017;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=9;RS=5030860 12 102840475 120265 A G . . AF_EXAC=0.00001;ALLELEID=125859;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840475A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865437 12 102840477 592 C G . . ALLELEID=15631;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840477C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R413P|UniProtKB_(protein):P00439#VAR_001036|OMIM_Allelic_Variant:612349.0016;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=79931499 12 102840478 102576 G A . . AF_EXAC=0.00003;ALLELEID=108312;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840478G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R413C;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644467 12 102840478 987912 G C . . ALLELEID=975885;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840478G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644467 12 102840480 932266 A C . . ALLELEID=920560;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840480A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874542925 12 102840486 102572 A C . . ALLELEID=108308;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840486A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.F410C;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644475 12 102840487 932279 A T . . ALLELEID=920561;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840487A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874543567 12 102840492 612 C T . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=15651;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840492C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0038|UniProtKB_(protein):P00439#VAR_001034|DeBelle_Laboratory_for_Biochemical_Genetics:p.R408Q;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030859 12 102840493 577 G A . . AF_EXAC=0.00066;AF_TGP=0.00040;ALLELEID=15616;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840493G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_001035|OMIM_Allelic_Variant:612349.0002|DeBelle_Laboratory_for_Biochemical_Genetics:p.R408W|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2791326|Illumina_Laboratory_Services,Illumina:109319|HGMD:CM870016;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=17;RS=5030858 12 102840495 635 G A . . ALLELEID=15674;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840495G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P407L|OMIM_Allelic_Variant:612349.0062|UniProtKB_(protein):P00439#VAR_068007;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644473 12 102840495 932264 GGTATT G . . ALLELEID=920562;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840498_102840502del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1874547168 12 102840497 552907 T C . . AF_EXAC=0.00002;ALLELEID=546577;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840497T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2849939;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773526027 12 102840498 102567 A G . . ALLELEID=108303;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840498A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.I406T;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644469 12 102840499 619167 T C . . AF_EXAC=0.00002;ALLELEID=610543;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840499T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=749613899 12 102840507 92731 G A . . AF_ESP=0.00038;AF_EXAC=0.00054;AF_TGP=0.00060;ALLELEID=98638;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Phenylketonuria|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000012.12:g.102840507G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_001033|DeBelle_Laboratory_for_Biochemical_Genetics:p.A403V|HGMD:CM930567|Illumina_Laboratory_Services,Illumina:658622|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_891;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030857 12 102840510 987755 A C . . ALLELEID=975728;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840510A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1399587250 12 102840511 987756 A C . . ALLELEID=975729;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840511A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508725 12 102840511 102566 A G . . ALLELEID=108302;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840511A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.F402L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508725 12 102840511 1327562 A T . . ALLELEID=1318166;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840511A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102840515 987907 C A . . ALLELEID=975880;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840515C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874549626 12 102840516 872843 C G . . ALLELEID=860993;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840516C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62507322 12 102840516 92730 C T . . ALLELEID=98637;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840516C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS962555|DeBelle_Laboratory_for_Biochemical_Genetics:IVS11-1G>A;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62507322 12 102840517 862570 T C . . ALLELEID=852429;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840517T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1592945607 12 102840517 625286 T G . . ALLELEID=613623;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840517T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=33;RS=1592945607 12 102840518 987768 A C . . ALLELEID=975741;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102840518A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1874550090 12 102840523 102565 C T . . ALLELEID=108301;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102840523C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS11-8G>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507261 12 102843596 1185013 C T . . ALLELEID=1174950;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843596C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1 12 102843641 102560 C A . . ALLELEID=108296;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843641C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS11+5G>T;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508674 12 102843642 987771 T C . . ALLELEID=975744;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843642T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1471682834 12 102843644 1327563 ACCTTACTTTCTCCTTGGCATCATTAAAACTCTCTGCCACGTAATAGAGGGGCTGGAACTCCGTGACAGTGTAATTTTGGATGGCTGTCTTCTCCAGCTCCAGGGGGAGAAGCTTTGGCTTCTCTGATAAGCAGTACTGTAGGCCCCAAGTGAAAAGTTATTATCACTGTTAAATCAGGATCAGTATTCCCTGCTGCATCCCATAGGCCATTTGTGCCCCTTCTCTCATCTCACCCCGATTCCTTCTACATCACAGCCCAAATGCTGTGAGCCAAATTACTTTGCACATACTAGGTTCTACCCTTCATAGCTCATCTAAAACCTACAGCCAAGGGAGAAAGGAGTAATTCATTCCAATTACTTTCAAGTAAGGTGGTCAATAGATGACGTGGGAGCCAACCACACTTTCTGGCATGTGTTTGCATACTCACAAGGCTGCATGCATAGGTCAGCCTTGGAATCAGGAGGCCCCTTCTCCCCAGAGATATGTGTACTTGCAATTCCATTTCTATCTGTAAAACCCACAGCCATCATCAAATCATAGCTGCTAAGGTACCAATCACTGGAGAATGAGTTCCCAGGTTGCATATCAAAACGGATACAAATAGGGTTTCAACAATATTGAAAGCACAATAATGGTTTTCTGTACCCACCACTTTTAAATCTATCCTTGGTTCCTGTGAAGGTCATACCTGTAATTCACCAAAGGATGACAGGAGCCCAGCACCATATGCCTTTATGGAGTCTCCTTGTTTGCAGAGCCCAAACTCCACAGTAAACCAGTAAATCTGGAATGGAAAGTCAATCTGAGAGCACACTCTATGATGGTTAATTTTATGTGTCACCTTGACTGGATGAAGGGATACCTGAATAGATAGTAAAGCATTATTTTGGGGTGTGTCTATGTCTATGAGGGTGTTTCTGGAGGGGATTGGCATGTGAGTCAGTGGACTGAGTGGGGAAGATCTTTCCTCATTGTGGGCGGGAACCACCCAATGGGCTGGAATCCCAGATGGAAGAAAAAGGCAGAGGAAAGCCACATACGTATTCTATCTCTCTTGGAACCAGGACACCCTGTTTCTCCTACCCTTAGACATCAGAACTCCAGGCTTTCTGGCCTTTGGATTCTGGGACTCGCACCCAACCACCACCCAGGGGTTCTCAGGCCTTTGGTCTCAGACTGAGAGCTATACCATCAACTTCCATGGTTCTGAGGCTTTTGAACTTTGACTAATCTACGCCACTGACTTTTCAGGTTCTCCAGCTTGCAGGCAGCATATCGTGGGACCTCTCAGCCTTGATAACTGTGTAAGCCAATTCCCCTAATAAGTCCCCTCTCAGATTTCCCTCTCTCTCTTTCTCTCTCTATATATATCTCACTGGTTCTTTCTCTCTGGAGATCTTTGACTAGTACACACCTCAAAGAAGGAGAAGGCAGCAACTGCCCCAGTGCCATGGACAGGATTGCCCAGGTAGAAGCCTGTGCAGGTTTGTTCTCTGAATCAGCATGACCTGTGATCACGTCTCTGTGTCCTGTGTCTCACTCTATCTAGTCACCTGTTGAGTGCTGGCTGAATGTAAAGCATGATGGAAAATATCAGGAGGTACTAAGAAGCCCCAAAAGGAGGCTCCCAACAATATGTTCTCCATATGACAGGAACTCCTCCATCTCTTTTGTTTTTTTCTCTGTGGTGTCAACTAGACTGAGATGTTCCTCAGATGCTCTGAAGCTGGCAGAGCTCATTAGGCACAACAGTGGGAGGTAGCAGACTGGGTAGTGATAGAATCAGTGAGGAGAATGTCCCATCATCCATGCTAAAACTTGGGGATGTTTCTGAAGTCAACTACTGCATTTATGCAAATAACCAAGTACTTTTCTTTCAATAACTGACAGTTCAATATGTCCTAGAGAGTTGGCCTGAAAAAAAGAATATTGGGGTTCTGGGGCTAAGAGGAACCCAGAGCTCAGTTAGCTGCTGGAGACAGTCACAGTTTTGGAGAATTAGGGGTAGGTTATTAGTTACATCTGTTTATTGGACTAGAAAATGTTAAACCTGGGAGGGCTGTCAGAGCTCAGTCAGTCTGACCTCCTCACATACAGGTGAGGAGTCTTCAGCCCAGGAAGGTAAGGCAACATGCATGTAGTTACACAGCAAATTAAGGGCAGCAAGAATCCAGGACTGTTCCTCAACCAATCAGTAACATTTTTTCAATCAGTAACAATTTTTTAGAAAAGTCGCATTGGTGATAAGTCATTTTAATATTGTTATGGCAGATAACATGATGCTTTGACTTCCAAGTTTATTTTCTTTGTAGAGATGAGAAATTCTATCTAGCTCTGTAACTTCTTTGAAAGCCGCTCCTTGTATCTCTGTAGCCTCTGGCATTTAAAAACCCATGTTCACAAAAATTTAAATAATTCAATTTAAATAGTTAAATTTTTAGTTGCCTTTGAGATGGGCAAGATATGAGCTATTGCATCCCATTGTTAGAGATGAGGAAGAAAAAGCCACTTGTCCAGCACCTGAAAGCAGCTGTCAGTGAGAAGATAACCTTCTGGGAGTTTTTAGCCTTTTGATGGAACGAGTTCATAAGCTTCTAAACTGATATATCTTAATAATAGATTTGCACTCATTGGCAGTCCACAATTCAATTATAAATGTTTATTTTTCAACTTCCAGGACAGGCAATGTGGCTAGTGGCTGGGGTGGGATGTACTAAAATTAGAAACGAGTATGAAGGAAGGAAATCACCTGCTATGTAGAATTGCTTCTATAGCCCCAGTGGACAAGTGTCATCAGATATACTCAGGAGAGGAAAGTGTTCAGCAAGAAGGGGAAAGCCCACCCCCATTTCTCCCTCATGTCTGAGAAAGAAAAGATCCTAATGTATGCTCTGGTGTGAAAAGTAGAGATGTAAACATTCCATGTTCAAAGCTCTGGATCCAGATTACTTCATACACACACTTTATGCCAAGGGTTTTCAAGGGCTACTATTATAGCCTGTTGGTGGGTTCAAGATACTGCTTAAAATTTAAGAGATGTAAACATCTGTAGGTAGCTGATTTCAAAATCAAATTATTAAGGAGAAATCTATCAAAATGTGAAGTTTCACTTGTGCAAATGTAACCCACCACATTCTGATTTTTTTCCCCAGATAACCTGGCTTCCAGGGGAGTAGGAAAGTTTCAAAGACCTGAGGGCCATAGCCTATAGCACTCCACCATCCACCCAGGGAGAGAAGGGACTTACTGTGGCGAGCTTTTCAATGTATTCATCAGGTGCACCCAGAGAGGCAAGGCCAATTT A . . ALLELEID=1318167;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843648_102846953del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 12 102843645 102557 C G . . ALLELEID=108293;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843645C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS11+1G>C;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62509015 12 102843645 102556 C T . . ALLELEID=108292;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843645C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS11+1G>A;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62509015 12 102843646 102562 C G . . ALLELEID=108298;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843646C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R400T;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475658 12 102843646 102554 CT C . . ALLELEID=108290;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843648del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4908603|DeBelle_Laboratory_for_Biochemical_Genetics:p.R400>Gfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475590 12 102843648 601 T A . . ALLELEID=15640;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843648T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.V399V|OMIM_Allelic_Variant:612349.0065|OMIM_Allelic_Variant:612349.0027;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199475584 12 102843649 120263 A G . . ALLELEID=125857;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843649A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865436 12 102843651 102550 T C . . ALLELEID=108286;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843651T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.K398K;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199475638 12 102843658 962987 T C . . AF_EXAC=0.00001;ALLELEID=947770;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843658T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776178623 12 102843664 102546 T G . . ALLELEID=108282;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843664T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.D394A|UniProtKB_(protein):P00439#VAR_001028;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516102 12 102843665 120262 C A . . ALLELEID=125856;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843665C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516142 12 102843665 102545 C G . . ALLELEID=108281;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843665C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.D394H|UniProtKB_(protein):P00439#VAR_001029;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=5;RS=62516142 12 102843670 102544 A G . . ALLELEID=108280;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843670A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.F392S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475695 12 102843671 853581 A T . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=839251;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843671A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=180819807 12 102843672 553594 ACT A . . ALLELEID=546587;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843673CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1429055740 12 102843673 225136 C G . . ALLELEID=227027;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843673C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=17;RS=869312997 12 102843674 120261 T C . . ALLELEID=125855;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843674T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865453 12 102843676 625 T C . . AF_EXAC=0.00010;ALLELEID=15664;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843676T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0051|Illumina_Laboratory_Services,Illumina:1342257|UniProtKB_(protein):P00439#VAR_001027|HGMD:CM941139|DeBelle_Laboratory_for_Biochemical_Genetics:p.E390G;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030856 12 102843678 102543 TG T . . ALLELEID=108279;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843679del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.A389>EfsX13;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62506949 12 102843679 987753 G C . . ALLELEID=975726;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843679G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874688379 12 102843679 1327566 G T . . ALLELEID=1318170;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843679G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102843680 102542 CCA C . . ALLELEID=108278;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843682_102843683del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.V388>Gfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475629 12 102843682 120260 A G . . ALLELEID=125854;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843682A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865435 12 102843683 102541 C G . . ALLELEID=108277;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843683C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.V388L|UniProtKB_(protein):P00439#VAR_001025;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516101 12 102843683 619 C T . . AF_EXAC=0.00007;ALLELEID=15658;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843683C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.V388M|OMIM_Allelic_Variant:612349.0045|HGMD:CM930564|UniProtKB_(protein):P00439#VAR_001026;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516101 12 102843684 703089 G A . . AF_ESP=0.00046;AF_EXAC=0.00024;AF_TGP=0.00040;ALLELEID=693132;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102843684G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:143413;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149595475 12 102843684 929125 G T . . ALLELEID=917098;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843684G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=149595475 12 102843686 1327553 A C . . ALLELEID=1318157;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843686A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102843686 102539 A G . . ALLELEID=108275;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843686A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_001024|DeBelle_Laboratory_for_Biochemical_Genetics:p.Y387H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517194 12 102843688 102538 T C . . AF_ESP=0.00008;ALLELEID=108274;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843688T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y386C|UniProtKB_(protein):P00439#VAR_001023;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516141 12 102843695 551270 G A . . ALLELEID=546590;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374;CLNDN=Phenylketonuria|not_specified;CLNHGVS=NC_000012.12:g.102843695G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555203677 12 102843698 370701 G A . . ALLELEID=358085;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843698G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1037293795 12 102843699 872835 G C . . ALLELEID=860994;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843699G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874691554 12 102843706 628 G A . . AF_EXAC=0.00033;AF_TGP=0.00020;ALLELEID=15667;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13|MedGen:CN263130|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|BH4-deficient_hyperphenylalaninemia_A|Marfanoid_habitus_and_intellectual_disability|not_provided;CLNHGVS=NC_000012.12:g.102843706G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0054|HGMD:CM930563|UniProtKB_(protein):P00439#VAR_001022|DeBelle_Laboratory_for_Biochemical_Genetics:p.T380M|Illumina_Laboratory_Services,Illumina:578408;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=41;RS=62642937 12 102843713 102535 T A . . ALLELEID=108271;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843713T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.T378S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642911 12 102843715 634 TA T . . ALLELEID=15673;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843717del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y377>Tfs|OMIM_Allelic_Variant:612349.0061;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62642941 12 102843716 932278 A C . . ALLELEID=920563;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843716A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874693635 12 102843721 932257 T C . . ALLELEID=920564;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843721T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874694173 12 102843722 660581 G C . . AF_EXAC=0.00003;AF_TGP=0.00040;ALLELEID=640585;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843722G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=184148104 12 102843726 102530 GGC G . . ALLELEID=108266;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843727_102843728del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.A373>Hfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62516099 12 102843727 932260 G T . . ALLELEID=920565;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843727G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874694965 12 102843730 1327554 G C . . ALLELEID=1318158;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843730G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102843731 102528 T A . . ALLELEID=108264;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843731T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_001020|Illumina_Laboratory_Services,Illumina:835030|DeBelle_Laboratory_for_Biochemical_Genetics:p.T372S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517163 12 102843733 102527 T C . . ALLELEID=108263;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843733T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.K371R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507268 12 102843736 625290 T C . . ALLELEID=613619;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843736T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1592947508 12 102843738 620 CAGCTCCAGGGGGAGA C . . ALLELEID=15659;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843743_102843757del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:612349.0046;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=62516097 12 102843740 1327564 G C . . ALLELEID=1318168;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843740G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102843742 1185012 T C . . ALLELEID=1174951;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843742T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102843743 625289 C T . . ALLELEID=613620;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843743C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1488232864 12 102843744 102526 C T . . ALLELEID=108262;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843744C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L367L;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=62508648 12 102843745 619161 A C . . ALLELEID=610544;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843745A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508574 12 102843745 102525 A G . . ALLELEID=108261;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843745A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L367P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508574 12 102843746 619153 G C . . ALLELEID=610545;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843746G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565842281 12 102843748 102521 G T . . ALLELEID=108257;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843748G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P366H|UniProtKB_(protein):P00439#VAR_001019;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516098 12 102843750 597 GAGA G . . ALLELEID=15636;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843753_102843755del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:612349.0021;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=62516096 12 102843755 102518 GC G . . ALLELEID=108254;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843756del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.K363>Nfs|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842417;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=5030654 12 102843756 102517 C A . . ALLELEID=108253;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843756C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.K363N;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63329263 12 102843764 1327565 T G . . ALLELEID=1318169;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843764T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102843769 1327561 G A . . ALLELEID=1318165;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843769G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102843769 626 G C . . ALLELEID=15665;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843769G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S359X|OMIM_Allelic_Variant:612349.0052;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=5030854 12 102843771 556817 T A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=546598;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843771T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376480977 12 102843774 1065374 G T . . ALLELEID=1053671;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843774G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1 12 102843776 102514 A C . . ALLELEID=108250;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843776A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.C357G|UniProtKB_(protein):P00439#VAR_011575;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508595 12 102843777 595 G C . . ALLELEID=15634;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843777G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0019|DeBelle_Laboratory_for_Biochemical_Genetics:p.Y356X__1;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62516095 12 102843777 92729 G T . . ALLELEID=98636;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843777G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y356X|HGMD:CM941138;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62516095 12 102843779 872846 A C . . ALLELEID=860995;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843779A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507320 12 102843779 102512 A G . . AF_ESP=0.00023;AF_EXAC=0.00007;ALLELEID=108248;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843779A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y356H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507320 12 102843780 872842 C A . . ALLELEID=860996;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843780C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62508684 12 102843780 872841 C G . . ALLELEID=860997;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843780C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62508684 12 102843780 102509 C T . . ALLELEID=108245;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843780C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS10-1G>A;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62508684 12 102843781 120258 T A . . ALLELEID=125852;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843781T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=281865447 12 102843786 1327555 G T . . ALLELEID=1318159;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843786G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1 12 102843790 607 C T . . AF_ESP=0.00038;AF_EXAC=0.00027;AF_TGP=0.00060;ALLELEID=15646;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843790C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS10-11G>A|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_897|OMIM_Allelic_Variant:612349.0033;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=5030855 12 102843790 872845 CA C . . ALLELEID=860998;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843792del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1874706297 12 102843792 987758 A C . . ALLELEID=975731;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102843792A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1435691439 12 102843793 102508 G C . . ALLELEID=108244;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102843793G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS10-14C>G;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507334 12 102844239 102507 C T . . AF_TGP=0.33047;ALLELEID=108243;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844239C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS10+97G>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12580432 12 102844329 102506 G T . . ALLELEID=108242;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844329G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS10+7C>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508639 12 102844333 633 T C . . ALLELEID=15672;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844333T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS10+3A>G|OMIM_Allelic_Variant:612349.0060|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842420;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508689 12 102844333 102504 T G . . ALLELEID=108240;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844333T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS10+3A>C;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508689 12 102844335 203872 C A . . ALLELEID=200222;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844335C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62516147 12 102844335 102501 C T . . ALLELEID=108237;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844335C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS10+1G>A;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62516147 12 102844345 102498 AC A . . ALLELEID=108234;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844347del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3472650|DeBelle_Laboratory_for_Biochemical_Genetics:p.G352>Vfs|Illumina_Laboratory_Services,Illumina:1662509;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62516094 12 102844347 102496 C G . . ALLELEID=108232;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844347C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G352R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508686 12 102844347 102489 CAAAGGATGACA C . . ALLELEID=108225;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844348_102844358del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475600 12 102844353 102493 A ATGAC . . ALLELEID=108229;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844354_102844357dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S349_S350>VIfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62516157 12 102844353 102494 A T . . ALLELEID=108230;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844353A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S350T|UniProtKB_(protein):P00439#VAR_001015;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517183 12 102844355 102491 G T . . ALLELEID=108227;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844355G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S349X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62507279 12 102844358 932253 A G . . ALLELEID=920566;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844358A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874733519 12 102844362 102488 G A . . ALLELEID=108224;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844362G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L347F|UniProtKB_(protein):P00439#VAR_001011;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516154 12 102844362 102487 GC G . . ALLELEID=108223;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844365del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G346>Gfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62516063 12 102844368 102484 C A . . AF_EXAC=0.00002;ALLELEID=108220;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844368C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_001009|DeBelle_Laboratory_for_Biochemical_Genetics:p.A345S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516062 12 102844368 102483 C T . . ALLELEID=108219;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844368C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.A345T|UniProtKB_(protein):P00439#VAR_001010;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516062 12 102844370 102482 C A . . ALLELEID=108218;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844370C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G344V|UniProtKB_(protein):P00439#VAR_009248;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508582 12 102844370 102481 C T . . ALLELEID=108217;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844370C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:G344D;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508582 12 102844371 102480 C G . . ALLELEID=108216;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844371C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_009247|DeBelle_Laboratory_for_Biochemical_Genetics:p.G344R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508679 12 102844371 102479 C T . . ALLELEID=108215;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844371C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G344S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508679 12 102844372 872839 A T . . ALLELEID=860999;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844372A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1874735553 12 102844374 102476 A C . . ALLELEID=108212;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844374A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y343D;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508651 12 102844374 932256 A T . . ALLELEID=920567;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844374A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508651 12 102844376 102475 GC G . . ALLELEID=108211;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844378del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.A342>Hfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63581460 12 102844379 102472 T C . . ALLELEID=108208;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844379T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_001005|DeBelle_Laboratory_for_Biochemical_Genetics:p.K341R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516153 12 102844379 102471 T G . . ALLELEID=108207;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844379T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.K341T|UniProtKB_(protein):P00439#VAR_001006;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516153 12 102844382 102469 A G . . ALLELEID=108205;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844382A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.I340T;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508720 12 102844391 102467 C A . . ALLELEID=108203;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844391C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_001003|DeBelle_Laboratory_for_Biochemical_Genetics:p.G337V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517206 12 102844394 102466 T C . . ALLELEID=108202;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844394T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Q336R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508735 12 102844397 120257 T G . . ALLELEID=125851;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844397T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865434 12 102844399 286662 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=270899;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844399G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140243918 12 102844400 102464 C G . . ALLELEID=108200;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844400C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.C334S|UniProtKB_(protein):P00439#VAR_001002;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517174 12 102844418 281073 G A . . ALLELEID=265310;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844418G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042096 12 102844418 1327556 G T . . ALLELEID=1318160;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844418G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102844420 102922 A C . . ALLELEID=108658;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844420A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.F327L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475642 12 102844424 1327560 C G . . ALLELEID=1318164;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844424C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102844424 579 C T . . ALLELEID=15618;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844424C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.W326X|OMIM_Allelic_Variant:612349.0015;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62514959 12 102844424 932269 CA C . . ALLELEID=920568;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844425del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1874741770 12 102844426 102921 G C . . ALLELEID=108657;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844426G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y325X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62508573 12 102844427 92756 T C . . ALLELEID=98663;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844427T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_009245|HGMD:CM000547|DeBelle_Laboratory_for_Biochemical_Genetics:p.Y325C;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508578 12 102844431 987909 T C . . ALLELEID=975882;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844431T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1221031352 12 102844432 932271 C A . . ALLELEID=920569;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844432C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=202183605 12 102844432 120298 C T . . ALLELEID=125892;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844432C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=202183605 12 102844433 932272 T C . . ALLELEID=920570;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844433T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62517199 12 102844433 102918 T G . . ALLELEID=108654;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102844433T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS9-2A>C;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62517199 12 102844438 1327549 T C . . ALLELEID=1318153;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102844438T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1 12 102846852 92755 C A . . AF_ESP=0.36660;AF_EXAC=0.35173;AF_TGP=0.26957;ALLELEID=98662;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102846852C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS076650|DeBelle_Laboratory_for_Biochemical_Genetics:IVS9+43G>T;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1522306 12 102846889 102916 A T . . AF_EXAC=0.00003;ALLELEID=108652;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102846889A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS9+6T>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62517196 12 102846890 102915 C T . . ALLELEID=108651;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846890C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS9+5G>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508637 12 102846891 1065378 T A . . ALLELEID=1053672;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846891T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1 12 102846894 102914 C T . . ALLELEID=108650;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846894C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS9+1G>A;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62508584 12 102846894 102913 CTGT C . . AF_EXAC=0.00002;ALLELEID=108649;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846895_102846897del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.T323del;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=199475618 12 102846895 102917 T C . . ALLELEID=108653;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846895T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.T323T;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199475637 12 102846896 932258 G A . . ALLELEID=920571;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846896G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874870478 12 102846899 616 G C . . AF_EXAC=0.00003;ALLELEID=15655;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:C2678416|MedGen:CN517202;CLNDN=Phenylketonuria|Mild_non-PKU_hyperphenylalanemia|not_provided;CLNHGVS=NC_000012.12:g.102846899G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000998|OMIM_Allelic_Variant:612349.0042|DeBelle_Laboratory_for_Biochemical_Genetics:p.A322G;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62514958 12 102846901 102911 G A . . AF_ESP=0.01753;AF_TGP=0.01438;ALLELEID=108647;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102846901G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:742046|DeBelle_Laboratory_for_Biochemical_Genetics:p.L321L;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61747292 12 102846915 987911 A G . . ALLELEID=975884;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846915A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1874872863 12 102846924 102905 G A . . ALLELEID=108641;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846924G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P314S|UniProtKB_(protein):P00439#VAR_068006;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475650 12 102846929 102901 C T . . ALLELEID=108637;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846929C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G312V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642915 12 102846930 619151 C G . . ALLELEID=610546;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846930C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763115697 12 102846931 120297 CAG C . . ALLELEID=125891;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846932AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281865430 12 102846932 578 A G . . AF_EXAC=0.00001;ALLELEID=15617;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846932A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000996|DeBelle_Laboratory_for_Biochemical_Genetics:p.L311P|OMIM_Allelic_Variant:612349.0003;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642936 12 102846938 92753 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=98660;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846938G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM930556|UniProtKB_(protein):P00439#VAR_000994|DeBelle_Laboratory_for_Biochemical_Genetics:p.A309V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642935 12 102846939 1327567 C T . . ALLELEID=1318171;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846939C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102846943 1065385 GC G . . ALLELEID=1053673;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846945del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1 12 102846947 120296 AT A . . ALLELEID=125890;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281865456 12 102846948 618 T C . . AF_EXAC=0.00001;ALLELEID=15657;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846948T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000992|OMIM_Allelic_Variant:612349.0044|DeBelle_Laboratory_for_Biochemical_Genetics:p.I306V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642934 12 102846953 842394 T C . . ALLELEID=852653;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846953T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1555203951 12 102846954 120294 G C . . ALLELEID=125888;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846954G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=281865451 12 102846958 102894 T C . . ALLELEID=108630;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102846958T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS8-7A>G;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62517165 12 102846959 120295 T C . . ALLELEID=125889;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102846959T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=281865452 12 102851252 1065384 AGCATTGGATTCTTGGCAAATGTCACCTCACTTAATTCAAGCATATACACAAATAACTGCCTGACAAGGTAGAAAGTTGCAACAGCCCTGAAAAGGTAAGGGGAATGTACTAAGAGATTGGAAGAAGGTGAGGTAGTTCCTGCATGGGAATCAGGGAGGCTTTCATGGATGAAAGGCTCTAGCAGGAAAAATGAGATTAGTACACTGAAGAACACACATATGATTCAGAGGATGAGTGATTCACCAACCCCATGCTTGATCTCCGAAATGGGTATTTAGCTTCCCAGAACCACACACCCATTTCAGGTGGGATCATAGAACTGTACCTGGTTTCCGCTCTTGCAGAGGGCATGAGGACCCCTCCCTGGGCTCAACTCATTTGAGAAATTCAGGTCACAGACCTATAACTAGAAGGCTAAAAAATCCATTCCTTACCTGGGAAAACTGGGCAAAGCTGCGATCTGAAAACAAGGGCACATGTCCCAACAGCTCATGGCAGATGTCACTGAAAGACAGAAAGCACAGAGAGCTCGGAGGGGAGGAGGTTTAAGCCAAGCCAGACTCAGTCTTTCTACATGAGGAATGGGCAGAAAGAATGGAAATAACTCTTTTAGGCTTATGATCCCTCTCCCAGGAATAAGTGATATGCAGAGGTTGGGATCATAAAAGGCAGGGTACAAGGTAAAAAGAAGAAAAGGAAGGAAAAATAAGAGACAGGTGCAGGGTAGGGCACAGCAGCCAAGGGTCTTAAGAGTATCCCCAGTGGGGTACCAGGCAGAAGAGCTAATATTCCTGTGGACATGCTCCCATATACCTAAGTGAGCTATGAGTCATGAACACTTCTCATCCTGTCTTCTCCCTGGTATTGACTTCCCTGGGCAGATACAATATGCTCAGCTATTCCACTGGGAACTAAAACAAAAACAGTGCTGCTCTTCTGTTAGTCTGGAGGTGGACAGCAGTGAGGGAAGAAAACCTACATTTATTTAACACTGTATGTGCTATGTCCATTTGGAACAGGTCTTTTTGGATTTGTAGCAATGAACTTTATGGGCAAGGAAAAACAATTTTGGATGTTCCATTAATTTTTTTATAAGTTGCATAAGTTTTATCAGACTAAGGGGATAACGAAACACCCAAGTAAGAAGCATAATGGCTGCAATTCTCTACCTCTACCCAATACACAATCTAGGCAAAGAAAGATAAGAGTAATCTAGATGTATACTTAGGAAGTATTGAGATAGCTTGGCTGCCACTTGTTCCTGTTCTCATTTGCAACTTCGTAGCTTTGACTTTGGAACTTGATTGGGATCTCTCATTCTCACTGCCAAGGGAGTTCTGAGTTATTGGATCACAGGATGACCAAATCTCCAATCAGTCTGGTCTATCTACTTGGATGGAGCAAATCTCCAGAATAGATGAATTGTTTTTAGTACTACCAGCAAACAGTCTAGACAACTAGTCCTGTGGACCAGCCAGCAATGAACCCAAACCTCATTCTTGCAGCAGGAAAAGATGGCGCTCATTGTGCCTGGCAACTGGTAGCTGGAGGACAGTACTCACGGTTCGGGGGTATACATGGGCTTGGATCCATGTCTGATGTACTGTGTGCAGTGGAAGACTCGGAAGGCCAGGCCACCCAAGAAATCCCGAGAGGAAAGCAGGCCAGCCACAGGTCGGAGGCGGAAACCAGTGCAAGCTGGGATGAAAAGAAGAAAGAAAACTCAAAGCTCATCACCACTGAGTCAGAGGCACTAGGAGACCTTTAGGTAGTGGAGTAGTACACATAACTGCCCAGGGACATAGGCTTTGACGCTAGGCAGACTTGGCTTCAGATGTCTGCCTCGCTGCTTTCTAGCTAGGTGATCTGGATCAAGTAAATTCCCATTTCTGAGCCTCAGTTTCCTCATCTGCATAATGTGGATAGATACTTCTTAGAAATGTTCCAAGAATAAAAAGAGCTAATGAATACAAAGTACTTAGCACAGAGCCTAGCACATTGGAAACATGCAATAAATTTAGCTTTCATTACCATTTGTTAGGGTGGAACAATGATTCCCTACTTCTCCTGCTTCTAGAGTGAAGAGGGAATTTGAACCTCATTTCCCAGAAGGGAAGAGTATGGATAGAGTGCTTCCAGCTTCTGTACTGCACCTCACACAGTCTACCCCATAAGTAGCAGTGACCTGTCTGACTGGAGCATTTGGGAAGAGAATATGAATATTGTCAATTTAACTCTTTCTGTACTGCTCTTTCTCTCTTGATTGTTCACAGAGGACCTCATTCCAGTCTGCTCTTGGCCATGCAATGGACTATGCTCTATGAATTGGCAGGTAAGTTTACCTAATTAAGGGGTAAAATATTAGCAAGTCCATTTGTGTGCATATCTATATCACATTCTCTAAATCGCTCAATTTTAAAGCTGACCTCTGATCACCATCTCTATGGTTCCTGTATCTGTCTCTCAGTTTGTTGCAAACTTTGGAGGATAAGGATAGTGACAGTGATAATGGTAATAATAGCTAACACTATATTTGACCTACTGTATGTAAGACACTGTTTTAAGCTACTTTAGATATGCTACTAATCCCCACAATAGCCCTATGAAGTAGACACTTTTATTATGCCCACTTTACCGATGGGAAAGCTGAGACAGAGATAGGTTAAAGGTTTTATTCAAGGTCACAGCCACAGGCAGTCTAGCTTCAAAGTCTGTTCTCTTAATTACTATTATGTAGCTTCCCAACTGCTAGTATTACTGTTTTATTATTCTTATTATTGGCCATGGCAATGGAAGTAATTAGCTAAAGAAGTCTTTGAGATCCCCTTGCCTCTTGCCCCCATGTTCTCTGTGTCTTCAGGCTGAAGCACACTCTGCTTGGACCCTTACTCCCTTCTTTATCTAAGAAGCAAAGACTTTCTAATGGAAGGGACCCAAAAGGTCATCTAACTCACCCCCAAACTGTCCTGGCTACAACTTCCCTTCCTGCCAAGTAATTTCCCTGGCTCATTGCCCCCACAGTGGCCCATCTCTGCACAGCTCTGATATATAGAAAATTTTGTAACCTGTAGTCTGTCTCCCCACTTCTGCTTATTCTACCTGGCACACAGTAGGTGTTCAATATGTGCTAGTTCATTATTTTGTTTTTGCTAAATTAACATCCTCTTGACAGAAAGAGTAACACCCATTTCACCTGGATATACTGTACAGAGAGGCTTGCGACTCAATGTACTTACCTATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCTTTTCTTCCTCCATGTATTCCACTCGAGGGATGGGCTGCCCACTAGAATACAGGCACAAAATAGGTGTCTCAAGCAGGGCAGGGGCACAGCAGAACGCAGGTTAGGTTAGCAGAGGGAGTCGGGGACCAGAACCTGTGAGCTGCCATCACTTGCTACAGTGAATTTCATACATTATTTGAAAGAGAAAAATTCCACATCTTGATATAGGAAACATTGTTGTTTTGATTTCCCACATGAAAGGGTGATTTGGTTAAGCAGTGATACAGGCTACAATGAGGATTTGCTCTCACTTTCGGGAAATCACTTGGTTTTTCTACTCTTCTAATTCTCTAATTGCTTACCTGGGGTAGAAATTCACTTACCTGCACGGGCCAGTCAGGTATCACAAAGCTGTAAAGTTGCAGAGATTGGCAATAAGGAGAATGGGGGCTGGCAGGAGAATATATTCCCTTTCTAAACCAGGGCATCTAAGTTAAAGCAACACAGTGTATTTTTATGGTGTTAGCTAAAGCAATTAAACCAGTGGGCTAAACTGGATTTAATATGTAGGCCACGAATCTGAGATCCCCTTTGTTTGGTAGGCATGCACTTATTGGGTTTGATATTTCTGCTCCTGGGAAGTTATAAAGGTATTTAAATACATACTAATTAAGATTCCACATTGTATACATATATCAAAACATCATGTTGTACACCATATTTTATATACAATTATATAATTATATACAATTATATAATTGTATATAATTAAAAATTATATACAATTTTTATTTGTC A . . ALLELEID=1053674;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851253_102856067del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 12 102851671 987772 A T . . ALLELEID=975745;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851671A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1875152576 12 102851684 120293 T G . . ALLELEID=125887;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851684T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=281865450 12 102851685 120292 A G . . ALLELEID=125886;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851685A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=281865449 12 102851686 987762 C A . . ALLELEID=975735;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851686C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62514956 12 102851686 987764 C G . . ALLELEID=975737;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851686C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62514956 12 102851686 92752 C T . . AF_ESP=0.00015;AF_EXAC=0.00003;ALLELEID=98659;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851686C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS8+1G>A|HGMD:CS961660;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62514956 12 102851687 102892 C T . . AF_EXAC=0.00001;ALLELEID=108628;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851687C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Q304Q|Illumina_Laboratory_Services,Illumina:702111;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199475583 12 102851688 102891 T C . . ALLELEID=108627;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851688T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000991|DeBelle_Laboratory_for_Biochemical_Genetics:p.Q304R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475592 12 102851689 1185009 G T . . ALLELEID=1174952;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851689G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102851691 102888 GA G . . ALLELEID=108624;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851695del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.F302fsX39;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62642920 12 102851692 102890 A C . . ALLELEID=108626;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851692A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S303A;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475608 12 102851692 102889 A G . . ALLELEID=108625;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851692A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000990|DeBelle_Laboratory_for_Biochemical_Genetics:p.S303P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475608 12 102851696 805826 C A . . ALLELEID=794119;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851696C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1592952179 12 102851697 805825 T G . . ALLELEID=794120;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851697T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1592952183 12 102851698 805824 G A . . ALLELEID=794121;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851698G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057520732 12 102851701 92751 C A . . AF_ESP=0.00031;AF_EXAC=0.00045;ALLELEID=98658;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000012.12:g.102851701C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:68131|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831545|HGMD:CM920555|DeBelle_Laboratory_for_Biochemical_Genetics:p.A300S|UniProtKB_(protein):P00439#VAR_000988;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=9;RS=5030853 12 102851701 102886 CAAA C . . ALLELEID=108622;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851702_102851704del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.F299del;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=62507267 12 102851703 932267 A G . . ALLELEID=920572;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851703A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642933 12 102851704 208182 A G . . ALLELEID=204454;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851704A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=796064504 12 102851709 805823 C A . . ALLELEID=794122;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851709C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642939 12 102851709 92750 C T . . AF_EXAC=0.00001;ALLELEID=98657;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851709C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000986|HGMD:CM971133|DeBelle_Laboratory_for_Biochemical_Genetics:p.R297H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642939 12 102851710 102885 G A . . AF_EXAC=0.00002;ALLELEID=108621;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851710G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000985|DeBelle_Laboratory_for_Biochemical_Genetics:p.R297C;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642945 12 102851712 120291 T C . . ALLELEID=125885;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851712T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865446 12 102851713 805822 C G . . ALLELEID=794123;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851713C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765934604 12 102851715 102884 G C . . ALLELEID=108620;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851715G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S295X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62642910 12 102851724 626282 G A . . ALLELEID=614606;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851724G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=5;RS=1200240274 12 102851728 932255 C A . . ALLELEID=920573;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851728C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1875160008 12 102851729 558612 A C . . ALLELEID=547146;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851729A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751203209 12 102851730 120290 T A . . ALLELEID=125884;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851730T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642919 12 102851730 102883 T C . . ALLELEID=108619;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851730T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.H290R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642919 12 102851731 805807 G A . . ALLELEID=794124;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851731G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1486763160 12 102851734 102882 C G . . ALLELEID=108618;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851734C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G289R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475693 12 102851734 458082 C T . . ALLELEID=462148;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851734C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475693 12 102851735 102881 C G . . ALLELEID=108617;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851735C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L288F;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507327 12 102851740 619164 G C . . AF_EXAC=0.00002;ALLELEID=610547;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851740G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781096854 12 102851743 102880 C T . . AF_EXAC=0.00002;ALLELEID=108616;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851743C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.E286K;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508739 12 102851746 102879 G A . . ALLELEID=108615;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851746G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.H285Y;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475636 12 102851749 102878 A G . . ALLELEID=108614;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851749A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:C284R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475682 12 102851751 102877 A T . . ALLELEID=108613;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851751A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000984|DeBelle_Laboratory_for_Biochemical_Genetics:p.I283N;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508693 12 102851752 1065381 T C . . ALLELEID=1053675;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851752T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102851757 1065376 C T . . ALLELEID=1053676;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851757C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 12 102851758 102873 T A . . ALLELEID=108609;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102851758T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS7-2A>T;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62509019 12 102851761 984532 A G . . ALLELEID=972616;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851761A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=5;RS=1875163630 12 102851762 1065377 A G . . ALLELEID=1053677;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102851762A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1 12 102852809 805821 A T . . ALLELEID=794125;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852809A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1592952773 12 102852811 805820 T A . . ALLELEID=794126;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852811T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1555204434 12 102852811 439228 T C . . ALLELEID=432709;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374;CLNDN=Phenylketonuria|not_specified;CLNHGVS=NC_000012.12:g.102852811T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1555204434 12 102852812 102871 C G . . AF_EXAC=0.00001;ALLELEID=108607;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852812C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS7+3G>C;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507324 12 102852813 614 A T . . ALLELEID=15653;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852813A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS7+2T>A|OMIM_Allelic_Variant:612349.0040;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62514955 12 102852814 102869 C A . . ALLELEID=108605;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852814C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS7+1G>T;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=5030852 12 102852814 599 C T . . AF_EXAC=0.00003;ALLELEID=15638;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852814C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0025|DeBelle_Laboratory_for_Biochemical_Genetics:IVS7+1G>A;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=17;RS=5030852 12 102852815 589 G A . . AF_EXAC=0.00010;ALLELEID=15628;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Phenylketonuria|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000012.12:g.102852815G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_847|UniProtKB_(protein):P00439#VAR_000981|HGMD:CM910292|OMIM_Allelic_Variant:612349.0012|DeBelle_Laboratory_for_Biochemical_Genetics:p.P281L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030851 12 102852816 92749 G A . . AF_EXAC=0.00001;ALLELEID=98656;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852816G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM992948|DeBelle_Laboratory_for_Biochemical_Genetics:p.P281S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475654 12 102852819 120288 CG C . . ALLELEID=125882;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852824del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281865429 12 102852820 516006 G A . . AF_EXAC=0.00028;AF_TGP=0.00100;ALLELEID=504093;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374;CLNDN=Phenylketonuria|not_specified;CLNHGVS=NC_000012.12:g.102852820G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=138355741 12 102852824 932254 G C . . ALLELEID=920574;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852824G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507262 12 102852824 102852 GTATACATGGGC G . . ALLELEID=108588;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852826_102852836del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4908850;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475581 12 102852825 102861 T C . . ALLELEID=108597;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852825T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000978|DeBelle_Laboratory_for_Biochemical_Genetics:p.T278A;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516156 12 102852827 102860 T C . . AF_EXAC=0.00001;ALLELEID=108596;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852827T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y277C|UniProtKB_(protein):P00439#VAR_000976;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516155 12 102852828 603 A C . . AF_EXAC=0.00001;ALLELEID=15642;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852828A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000977|OMIM_Allelic_Variant:612349.0029|DeBelle_Laboratory_for_Biochemical_Genetics:p.Y277D|HGMD:CM910291;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=78655458 12 102852829 102859 C A . . ALLELEID=108595;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852829C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.M276I|UniProtKB_(protein):P00439#VAR_000974;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62514954 12 102852830 102858 A C . . ALLELEID=108594;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852830A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.M276R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508722 12 102852830 102857 A T . . ALLELEID=108593;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852830A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.M276K;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508722 12 102852831 102856 T C . . ALLELEID=108592;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852831T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.M276V|UniProtKB_(protein):P00439#VAR_000975;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516149 12 102852833 102854 G C . . ALLELEID=108590;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852833G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P275R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508715 12 102852834 102853 G A . . AF_ESP=0.00008;ALLELEID=108589;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852834G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P275S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508691 12 102852837 102851 T C . . AF_ESP=0.00554;AF_EXAC=0.00155;AF_TGP=0.00479;ALLELEID=108587;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852837T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_011573|DeBelle_Laboratory_for_Biochemical_Genetics:p.K274E;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142934616 12 102852839 598 G A . . AF_EXAC=0.00001;ALLELEID=15637;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852839G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0023|DeBelle_Laboratory_for_Biochemical_Genetics:p.S273F|UniProtKB_(protein):P00439#VAR_000973;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62514953 12 102852840 619148 A G . . ALLELEID=610548;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852840A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565846754 12 102852843 596 C A . . AF_EXAC=0.00003;ALLELEID=15635;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852843C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0022|DeBelle_Laboratory_for_Biochemical_Genetics:p.G272X|OMIM_Allelic_Variant:612349.0020|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844953;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62514952 12 102852844 619152 A C . . ALLELEID=610549;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852844A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565846764 12 102852845 120287 T A . . ALLELEID=125881;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852845T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475692 12 102852845 102850 T C . . AF_EXAC=0.00001;ALLELEID=108586;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852845T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:H271R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475692 12 102852846 102849 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=108585;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852846G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.H271Y|UniProtKB_(protein):P00439#VAR_000972;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517164 12 102852848 102846 C T . . AF_EXAC=0.00001;ALLELEID=108582;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852848C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000970|DeBelle_Laboratory_for_Biochemical_Genetics:p.R270K|HGMD:CM950892;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62514950 12 102852850 102844 GA G . . ALLELEID=108580;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852851del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=HGMD:CD011182|DeBelle_Laboratory_for_Biochemical_Genetics:p.I269>Tfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62508687 12 102852852 102842 T G . . ALLELEID=108578;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852852T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000969|DeBelle_Laboratory_for_Biochemical_Genetics:p.I269L|Illumina_Laboratory_Services,Illumina:685433;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508692 12 102852853 987781 G T . . ALLELEID=975754;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852853G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=748337823 12 102852854 619165 T C . . ALLELEID=610550;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852854T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565846805 12 102852855 102841 A G . . ALLELEID=108577;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852855A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y268H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507263 12 102852856 102840 C G . . ALLELEID=108576;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852856C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Q267H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475675 12 102852857 225135 T A . . AF_EXAC=0.00001;ALLELEID=227028;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852857T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=9;RS=778154939 12 102852857 556296 T C . . ALLELEID=546907;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852857T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=778154939 12 102852858 665198 G A . . ALLELEID=640586;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852858G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=199475676 12 102852858 102839 G C . . ALLELEID=108575;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852858G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Q267E;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475676 12 102852861 120286 T G . . ALLELEID=125880;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852861T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508752 12 102852862 932259 G T . . ALLELEID=920575;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852862G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1231529155 12 102852866 102834 T A . . ALLELEID=108570;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852866T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.H264L|UniProtKB_(protein):P00439#VAR_000967;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475580 12 102852868 102833 G C . . AF_EXAC=0.00002;ALLELEID=108569;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852868G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000966|DeBelle_Laboratory_for_Biochemical_Genetics:p.F263L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642944 12 102852869 619150 A G . . ALLELEID=610551;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852869A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565846863 12 102852872 120285 A C . . ALLELEID=125879;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852872A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865445 12 102852875 585208 C A . . ALLELEID=576255;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852875C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=5;RS=5030849 12 102852875 102832 C G . . ALLELEID=108568;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852875C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000964|DeBelle_Laboratory_for_Biochemical_Genetics:p.R261P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030849 12 102852875 582 C T . . AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=15621;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852875C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000965|OMIM_Allelic_Variant:612349.0006|HGMD:CM910287|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2479838|DeBelle_Laboratory_for_Biochemical_Genetics:p.R261Q;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030849 12 102852876 610 G A . . AF_EXAC=0.00001;ALLELEID=15649;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852876G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0036|DeBelle_Laboratory_for_Biochemical_Genetics:p.R261X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=5030850 12 102852876 133314 G C . . ALLELEID=137051;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852876G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030850 12 102852884 619159 A G . . ALLELEID=610552;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852884A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565846899 12 102852885 590340 G A . . AF_ESP=0.00346;AF_EXAC=0.00083;AF_TGP=0.00300;ALLELEID=581278;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852885G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:752546;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=75065106 12 102852900 422049 C T . . AF_EXAC=0.00001;ALLELEID=408504;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852900C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765533320 12 102852902 932252 C G . . ALLELEID=920576;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852902C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644503 12 102852902 102824 C T . . ALLELEID=108560;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852902C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:2018004|DeBelle_Laboratory_for_Biochemical_Genetics:p.R252Q|UniProtKB_(protein):P00439#VAR_000957;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62644503 12 102852903 584 G A . . AF_EXAC=0.00005;ALLELEID=15623;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852903G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R252W|OMIM_Allelic_Variant:612349.0007|UniProtKB_(protein):P00439#VAR_000958|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850886;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=5;RS=5030847;CLNDISDBINCL=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDNINCL=Phenylketonuria;CLNSIGINCL=217885:Pathogenic 12 102852903 102823 G C . . ALLELEID=108559;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852903G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R252G|UniProtKB_(protein):P00439#VAR_000956;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030847 12 102852903 1065386 GA G . . ALLELEID=1053678;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852904del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1 12 102852911 370982 AG A . . ALLELEID=358088;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852912del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057516914 12 102852912 102821 G A . . AF_EXAC=0.00002;ALLELEID=108557;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852912G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM950890|UniProtKB_(protein):P00439#VAR_000955|DeBelle_Laboratory_for_Biochemical_Genetics:p.L249F;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74503222 12 102852916 1065372 GC G . . ALLELEID=1053679;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852918del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1 12 102852917 102817 C T . . AF_EXAC=0.00001;ALLELEID=108553;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852917C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G247D;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475579 12 102852918 102816 C G . . ALLELEID=108552;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852918C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G247R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508731 12 102852918 102815 C T . . ALLELEID=108551;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852918C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G247S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508731 12 102852922 92748 C T . . AF_ESP=0.18153;AF_EXAC=0.29058;AF_TGP=0.31490;ALLELEID=98655;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102852922C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.V245V|Illumina_Laboratory_Services,Illumina:11409|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:2018003;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1042503;CLNDISDBINCL=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDNINCL=Phenylketonuria;CLNSIGINCL=402236:Likely_pathogenic 12 102852923 632 A G . . AF_TGP=0.00040;ALLELEID=15671;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN221596|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|Hyperphenylalaninaemia|not_provided;CLNHGVS=NC_000012.12:g.102852923A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000949|DeBelle_Laboratory_for_Biochemical_Genetics:p.V245A|Illumina_Laboratory_Services,Illumina:692718|OMIM_Allelic_Variant:612349.0059|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846671;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=76212747 12 102852926 621 G A . . AF_EXAC=0.00001;ALLELEID=15660;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852926G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000948|DeBelle_Laboratory_for_Biochemical_Genetics:p.P244L|OMIM_Allelic_Variant:612349.0047;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118203923 12 102852927 1327557 G A . . ALLELEID=1318161;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852927G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102852929 102808 C A . . ALLELEID=108544;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852929C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R243L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508588 12 102852930 588 G A . . AF_EXAC=0.00005;ALLELEID=15627;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852930G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM900176|DeBelle_Laboratory_for_Biochemical_Genetics:p.R243X|OMIM_Allelic_Variant:612349.0011|Illumina_Laboratory_Services,Illumina:669669;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=5030846 12 102852933 102807 G A . . ALLELEID=108543;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852933G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000946|DeBelle_Laboratory_for_Biochemical_Genetics:p.L242F;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475578 12 102852934 102806 GC G . . ALLELEID=108542;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852935del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R241>Pfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475657;CLNDISDBINCL=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDNINCL=Phenylketonuria;CLNSIGINCL=402236:Likely_pathogenic 12 102852935 102804 C T . . AF_ESP=0.00008;AF_EXAC=0.00010;ALLELEID=108540;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852935C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000944|DeBelle_Laboratory_for_Biochemical_Genetics:p.R241H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508730 12 102852936 102803 G A . . AF_EXAC=0.00014;ALLELEID=108539;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852936G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R241C|HGMD:CM930548|UniProtKB_(protein):P00439#VAR_000943;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=76687508 12 102852941 102800 C A . . ALLELEID=108536;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852941C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G239V|HGMD:CM990997;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507283 12 102852945 619166 T C . . ALLELEID=610553;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852945T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475577 12 102852945 102796 T G . . ALLELEID=108532;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852945T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000941|DeBelle_Laboratory_for_Biochemical_Genetics:p.T238P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475577 12 102852951 987774 C G . . ALLELEID=975747;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852951C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62507269 12 102852951 102793 C T . . ALLELEID=108529;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852951C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS6-1G>A;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62507269 12 102852951 805819 CT C . . ALLELEID=794127;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102852952del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1592953143 12 102852952 102794 T C . . ALLELEID=108530;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102852952T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS6-2A>G;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62514938 12 102852957 102795 T A . . AF_ESP=0.02876;AF_EXAC=0.00888;AF_TGP=0.02935;ALLELEID=108531;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102852957T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS6-7A>T|Illumina_Laboratory_Services,Illumina:281270|HGMD:CS015349;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508624 12 102855119 102792 C A . . AF_ESP=0.00077;AF_EXAC=0.00027;AF_TGP=0.00040;ALLELEID=108528;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855119C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS6+17G>T;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508592 12 102855131 987770 C T . . ALLELEID=975743;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855131C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1331362460 12 102855143 1327558 G C . . ALLELEID=1318162;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855143G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102855145 619163 A T . . ALLELEID=610554;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855145A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565848061 12 102855148 102788 G A . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=108524;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855148G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Q232X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62507348 12 102855148 619160 G C . . ALLELEID=610555;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855148G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507348 12 102855151 987779 A AC . . ALLELEID=975752;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855151_102855152insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1875354018 12 102855153 102785 A C . . ALLELEID=108521;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855153A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.V230G;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475673 12 102855153 557425 A G . . ALLELEID=546913;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855153A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475673 12 102855154 102784 C T . . AF_ESP=0.00023;AF_EXAC=0.00042;ALLELEID=108520;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855154C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000938|DeBelle_Laboratory_for_Biochemical_Genetics:p.V230I;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=5;RS=62516152 12 102855158 1065380 T G . . ALLELEID=1053680;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855158T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102855160 987754 C A . . ALLELEID=975727;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855160C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=281865444 12 102855160 120284 C T . . ALLELEID=125878;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855160C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865444 12 102855162 1327559 A T . . ALLELEID=1318163;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855162A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102855163 1065379 G C . . ALLELEID=1053681;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855163G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102855166 102782 G A . . ALLELEID=108518;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855166G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Q226X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62508696 12 102855166 932251 G T . . ALLELEID=920577;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855166G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508696 12 102855167 1065371 G GGGAATGTT . . ALLELEID=1053682;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855168_102855175dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1 12 102855168 932277 G A . . AF_EXAC=0.00001;ALLELEID=920578;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855168G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517204 12 102855169 102780 G C . . ALLELEID=108516;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855169G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P225A;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475589 12 102855174 549912 T A . . ALLELEID=547154;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855174T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201245932 12 102855177 102776 T A . . ALLELEID=108512;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855177T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000934|DeBelle_Laboratory_for_Biochemical_Genetics:p.D222V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507319 12 102855177 102775 T C . . ALLELEID=108511;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855177T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.D222G;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507319 12 102855180 609 T C . . AF_EXAC=0.00001;ALLELEID=15648;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855180T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000933|DeBelle_Laboratory_for_Biochemical_Genetics:p.E221G|OMIM_Allelic_Variant:612349.0035;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62514934 12 102855183 932276 T G . . ALLELEID=920579;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855183T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1592954413 12 102855186 932275 A G . . ALLELEID=920580;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855186A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1164279708 12 102855189 102773 C A . . AF_EXAC=0.00002;ALLELEID=108509;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855189C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000932|DeBelle_Laboratory_for_Biochemical_Genetics:p.G218V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62514933 12 102855192 102772 C T . . ALLELEID=108508;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855192C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.C217Y;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508617 12 102855193 102771 A C . . ALLELEID=108507;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855193A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.C217G|UniProtKB_(protein):P00439#VAR_000931;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508718 12 102855194 102769 G C . . ALLELEID=108505;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855194G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y216X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62509013 12 102855204 92747 A G . . ALLELEID=98654;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855204A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1354219|HGMD:CM961074|DeBelle_Laboratory_for_Biochemical_Genetics:p.L213P|UniProtKB_(protein):P00439#VAR_000930;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62516109 12 102855205 430401 G A . . ALLELEID=421894;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855205G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1131691945 12 102855207 102768 A G . . ALLELEID=108504;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855207A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L212P|UniProtKB_(protein):P00439#VAR_000929;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517198 12 102855209 102767 TG T . . ALLELEID=108503;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855211del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P211>Hfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62514929 12 102855211 102766 G T . . ALLELEID=108502;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13|MedGen:CN517202;CLNDN=Phenylketonuria|BH4-deficient_hyperphenylalaninemia_A|not_provided;CLNHGVS=NC_000012.12:g.102855211G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P211T|UniProtKB_(protein):P00439#VAR_000928;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62514931 12 102855224 102763 G C . . ALLELEID=108499;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855224G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y206X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62517201 12 102855227 102747 CTCATAGCAAGCATGGGTTTTAT C . . ALLELEID=108483;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855228_102855249del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y198_E205>Cfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749676 12 102855229 102759 C T . . ALLELEID=108495;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855229C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.E205K;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63083560 12 102855230 102758 A C . . ALLELEID=108494;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855230A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y204X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62514928 12 102855231 590 T C . . AF_EXAC=0.00002;ALLELEID=15629;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855231T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000924|OMIM_Allelic_Variant:612349.0013|DeBelle_Laboratory_for_Biochemical_Genetics:p.EX6-96A>G;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62514927 12 102855233 102756 G A . . AF_ESP=0.00023;AF_EXAC=0.00053;AF_TGP=0.00040;ALLELEID=108492;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102855233G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.C203C|Illumina_Laboratory_Services,Illumina:292320;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1801147 12 102855233 102755 G C . . ALLELEID=108491;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855233G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:C203W;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1801147 12 102855233 102743 GCAAGCATGGGTTTTATACAAGGA G . . ALLELEID=108479;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855235_102855257del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S196_C203>Lfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62895363 12 102855234 987777 C CA . . ALLELEID=975750;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855236dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1875366372 12 102855234 102754 C T . . ALLELEID=108490;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855234C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.C203Y;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507271 12 102855237 1327548 G A . . ALLELEID=1318152;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855237G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102855241 102752 G A . . ALLELEID=108488;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855241G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.H201Y|UniProtKB_(protein):P00439#VAR_000923;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517205 12 102855243 102748 G GT . . ALLELEID=108484;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855247dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.T200fsX6;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62508643 12 102855251 120280 C G . . ALLELEID=125874;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855251C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865442 12 102855252 625288 A T . . ALLELEID=613621;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855252A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=33;RS=886042078 12 102855257 987923 C CT . . ALLELEID=975896;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855259dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1875368328 12 102855260 102741 CAG C . . ALLELEID=108477;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855261AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L194>Efs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62508587 12 102855261 102742 A G . . AF_EXAC=0.00001;ALLELEID=108478;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855261A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000918|DeBelle_Laboratory_for_Biochemical_Genetics:p.L194P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030844 12 102855274 120279 C T . . ALLELEID=125873;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855274C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865441 12 102855279 1065370 C A . . ALLELEID=1053683;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855279C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102855279 102738 C T . . ALLELEID=108474;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855279C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:G188D;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475689 12 102855281 102736 C T . . ALLELEID=108472;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855281C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.W187X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62507336 12 102855282 102734 CAT C . . AF_EXAC=0.00004;ALLELEID=108470;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855283_102855284del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.T186_W187>Tfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62517207 12 102855283 102735 A G . . ALLELEID=108471;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855283A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.W187R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507272 12 102855285 102733 GT G . . ALLELEID=108469;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855289del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.T186>Hfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62507328 12 102855290 987759 CT C . . ALLELEID=975732;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855294del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1875371722 12 102855294 120278 TC AA . . ALLELEID=125872;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855294_102855295delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865433 12 102855296 987763 TTCC T . . ALLELEID=975736;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855297TCC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=1875372846 12 102855297 102731 T C . . AF_EXAC=0.00001;ALLELEID=108467;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855297T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.E182G;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475617 12 102855307 102729 A T . . ALLELEID=108465;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855307A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:Y179N;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475671 12 102855309 92746 T C . . AF_EXAC=0.00005;ALLELEID=98653;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855309T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM941131|DeBelle_Laboratory_for_Biochemical_Genetics:p.E178G|UniProtKB_(protein):P00439#VAR_000916;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77958223 12 102855310 928885 C T . . ALLELEID=917099;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374;CLNDN=Phenylketonuria|not_specified;CLNHGVS=NC_000012.12:g.102855310C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1448720360 12 102855313 102727 C G . . AF_ESP=0.00008;ALLELEID=108463;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855313C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000915|DeBelle_Laboratory_for_Biochemical_Genetics:p.V177L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475602 12 102855313 102726 C T . . ALLELEID=108462;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855313C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.V177M|UniProtKB_(protein):P00439#VAR_068002;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475602 12 102855315 631 C A . . ALLELEID=15670;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|BH4-deficient_hyperphenylalaninemia_A|not_provided;CLNHGVS=NC_000012.12:g.102855315C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0058|UniProtKB_(protein):P00439#VAR_000913|DeBelle_Laboratory_for_Biochemical_Genetics:p.R176L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74486803 12 102855315 102724 C T . . ALLELEID=108460;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855315C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R176Q;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74486803 12 102855316 102723 G A . . AF_EXAC=0.00002;ALLELEID=108459;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855316G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846734|DeBelle_Laboratory_for_Biochemical_Genetics:p.R176X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=199475575 12 102855319 555366 G A . . ALLELEID=546605;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855319G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475604 12 102855319 102722 G C . . ALLELEID=108458;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855319G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P175A|UniProtKB_(protein):P00439#VAR_000912;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475604 12 102855321 102721 A G . . ALLELEID=108457;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855321A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000911|DeBelle_Laboratory_for_Biochemical_Genetics:p.I174T;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138809906 12 102855322 102720 T C . . ALLELEID=108456;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855322T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_011570|HGMD:CM990994|DeBelle_Laboratory_for_Biochemical_Genetics:p.I174V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475632 12 102855326 664621 C A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=640587;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855326C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=192592111 12 102855331 102716 C T . . ALLELEID=108452;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855331C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000909|DeBelle_Laboratory_for_Biochemical_Genetics:p.G171R;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475613 12 102855333 987761 C T . . ALLELEID=975734;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855333C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1875377960 12 102855334 551658 T C . . ALLELEID=546619;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102855334T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1555204750 12 102855338 102714 A C . . ALLELEID=108450;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855338A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS5-6T>G;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507281 12 102855386 102712 C T . . AF_TGP=0.23463;ALLELEID=108448;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102855386C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS5-54G>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2251905 12 102865712 1065383 TTCCACTACCAAAAGTCATTCAGAAAAGCTTTCTCTCTCTTTTTCCGGAGGTTTTTCCATGTTGAAAGTAACTTTGTATTCAGTATAGAAAGGCCCATCATCTTCTCCATCTCCCTGAGATTCTATCAAAGCTGTCAAAGTACTATGCCATGAGCATTCTGGACAAATTTTAAGTTTCTTCTTGTGCATGTCTTTTCTTAATCCCTTAACTCAGTAACAGCACTTGTCAAAACACTAAGTTTCCCATGGTGGCATTTCTGTAGTTCCTTAAGACTCAAAGGAGCAAAGCTGTTGTCTTCTCAAACATGTTTTATATTTGCATTTTCTTTTGGCTAAAATAGGGTAGGGGAGGAACACAGAACCCCAGACAGGAAAAAAAAAAAACCATCCTAAAATTGTCCTTCACAGCTGGGTCAGACCAGATAAAAGTAGAAAGCTGAAGTTTGGCTGGCCTGAAATCTTGAATGATTCATTATTTCAGTAAAGCAGCCAGCTCCTTCTTGAATGTAAATGATTCTCTTTTTCCTTCTTCCCTGTTTAATGTAGAGAAGACCGGAGGCTGTTTTATTCAGGACCGAGGCCTTTTCTAATTACTGCAGACACCACTGCGTAATTAGACAACAAAGCTTGGGAGAGAGCAGGGCCCCCGCACAGTGGGTAATTTTGTTTTGTCTAGCAGCAATCATTTTTTATCATGTGTTATTAAAGGGAGGGTTTAAACACACCCCCACACACACATACACGCATGCACATGAACACATGCACACACAGAAGGCAGGACTCTTCATGCTGGTATTTTCCATCCTCAACTGGATGAGGGCAAGGGAGAAGCAGGCTAGGGGTGTGTTTTTCTCTCTTCCCCTCAACAAGCAAGGCAGACTTACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAACCCTAGGAGAAAAGAGACACCTGATTTTTCAAGGCTTCATAGGAAGAGGTCTGGTACCTTTATGAATGCTTTGAATGGGGGCTCTCAAGCCATGACAGTGCATGTCTCCTTCCCTTGGTTATACCCTAAAACTAAAGTCTCGGTTAAACTTAGCTCTCCTACCAGATATTGTGAGTGACACCTTATTAGTAACTTCTTTGATTTAGCATGAGCCTCCTTGCTGTGGATTCCAATGTGCATGATCTGTTCTTAAAGAAACCTCATCTACAGCATATCTGACTGACACACTTGCTAAACTAAGCAAAGTTCATAGGATGGATGTCTATGATGAAGATGTACAATATCCATTTAATTCCTGATTAAGGTTTGTGTCTAGCTCTACCTTTTAATTTCTTGATAGACGAGCAGGCACATGCTTATTGCTCTTGCAATTTTTAAAAATACCATTGATTAAATACATACTATGTGCCAGTTTGTGAGTACTAGGAACTGATTTTACATATAATTCTCACAACAAACTTGCGAGTTCGATGAGTATGATTATCCTGTTCTTTCCGGAATAAATGGTGGTTCAGAGAAGTGGATCCATAGTGACGGTGAGGCTGGGATTTGGATCACCATCAGTAATTGTCAGCCTTTACAATCTGGCAGGGGCCTAGCTAACTGAGAGTCTGTCTCAGGACCTAAAAAGGATGATAATGGAGTCTCCTCTGAAGCTGATTCACAGGCAGCCTTTTCCCAGTGATTTGTAAGCAGCACATTTCCGAGTGAAAGGAGGCTAAGTGTGTCTTTGAGTGTTTGGGGTGGAAATGGGATTCCAACTGATTGAAAGACAATTTTCCAAAAACAGTTGATTGCAGTCTAAATTTTGGTAAGACAAGAGACTGATATCATTTCCGTAGAACTCTGCTGTGGTTCTTCCAAGCCTTTCCCAGTAAGCCATGCCATCCACCACTTTAGCTCACAATTTCTCTGCTCCACTGTCCCTCCAAACCAAGGCAGTAGTGAATTCAAAACAAAAGCTTATGTCACAGAGTGTAATGTTTAAAGGAGACTTTTAAAAAGAGAAATATTCCCTGATTTTTAGATTTGTTTTTTGTTTTGGTTGCTTGATTGGTTGAATTTTTGTTTTGGGAGAGTTTTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCCCCCTCTCTCTCTCTATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATATAGATGTATATTACATGTATATATGTATATACATATATACATATATACATGTATATACACCTATATATATGTATATATATACACATATATATACATATATGTGTGTGTGTATATATATATATATACACATATATATACATATATGTGTATATATATATATATATATATATATATACACATATATATACATATATGTGTATATATATATATATATATATATATATATCAGGGCCTACCAGTAATTGTAAAGACACAGAGGGCAATGTAATATAATGTAATTTGTTCTGAGAATCTGCGGCATTGATTCTGGCACACAGGAAAAAACTACAGACACTTGTTGGAAGAAAGGAAGGGAGGGAAGATAGGAGTTAATTAGTTTATTTCCGGGAATATATTTTGAAAAATAGAAACATCCAAATGTTTCACACTTGAAAAGTGAAGTAAAACTACTACACATTTTTTTTTACTCCAAATCTAAATCCCAGATAAATAATGTGATTACTCTGTTTAGAAAAGATTTTATGACACGGTTATTGCAAAGTATAACTCTTCCTTTCCCTAGAGCACTGAATGGTTTTTAATCGTTAATTACAGATTAGAAAGCTTAGGAATCTGAGTACTTAAAACTACTGTTGTGCCTCGTTTCTACTGGGTGAAGGTAAGTTGGTTTGAGATGATGTGGTTAAAAAAAAAAAATAAAACTGGGCACCATGATTTACTTTCCAAATATCAGTAACACACCATTTTAGAAACCTGTCTACTGGACTAAACAAAGAACATTTATTTGTCCATATCTCCATACTTGGGGCTCAAAATAAACATGTAATATTGGTCAGTCATTAAGGTTTGATTGTTACAGTCATTCTCACTTGCCATTCTTATTTAATAGTTAGTAGTGAATAGTTTTTCTCCAGGCCCTAAGGATAATATGTAGACTTTTGACCCTGTAAGGCACCTTGTAGAAAGGTCCATTTCTATATTTTGGTCTAGACTTGAAGAATATGAAGCCCATGGAGCCATTTGCCTAAAGGCCCAAAACTACAGAACTAGCACCTCCATTTGGATTTTGTGGTCCTCCCTAGGCTGGCAAGTTGAGATTTGAGCACTGAAGTAGGAATCCAGGAAGAAAAGAGAATTCCTTCAATCCGTGGATTTCCACTTCATCATGCTGCTTCTAGGAATGAGATATCCATGAACAGTTCTTACCCCCATTTGCCTTTATTGTTTATCTTTCATGTACCTTGCCTAGGTGGTTTAAAGATTTTCTACTTGTGAAAATAAAAGCTAATGTAATACTGTATACCCAGTTGATATTATCAATTATGTCAATTATGTCATATATCAATTATGTCAGAGGAAATATGTAAGTATATAAATAAAATGATTAAAGAAATACACCAAACTCTAACAAGTGTTACCTCCAGGTAGTGGGAAAAATAAGTAACACTAACAGTTGTATTCTTGAAAACTATTTATGCTTTTCAAGTTTTCTAATGTGAGAACGGGTTTCTTTTAGAATAAAAAAAAGAAAATAGTATTAAATATCCATCTCAAATCATTTTAGTGAAGTAGCAGGAGATTCACACATTGGTATACAGGAACACACACACAGATAATGCACTATACAGATCTTCCATGTGGGAAGGTTTCTAACCATGACCCTTTCCAGCTCCTGGTTTCTAAGTTCATTATCAGCCTGCAAGGGGCCCCAACCAACCAGGTTGCAGGGAGTTTTGCTTTCTCAGTTACCAGTGGTCAGAGAGCTCTGTGGCCTGACGCCCAGCCTCTTGGGGATCTGGCCTTGCATTCCTTGGGCTACCAGACGACCACAGGGCCTCTGTAGCCGTCCATGTGGAGTACATTCTGAATCAAATCACAGTTGGTGATGACTGATCACCCTGTCTCAATTTAGACTAATAGCAGCAATTTCAGTAGCACTGCATGTAATTTATTTATAATCACCCTGTCTCAATTAAACTAATAGCAGCAATTTTAGTTGCACTGCATGTAACCAAGTATGTTTTGACAGGAAAATATATTGTTGGTGAAGGAGTGGTGAGGGGGAGGGGAGGGGATAGAAGACGGGAGAAAGTCGAGAGAGTTCTACAGGATGCAAGTCATGACATCAACTGAAGTCTGCATGTATTGAGAGGTATAATTTGTGTGTGTGGGTGGGTTTAGGGGAGAGGGTAACTACATATATGGAAAAGTCTTGAGTATTCTTGTAGACTGAGATATTTATTCCATCATTTCCTAATATCATAGCTAAGGTTAAACCTCAGAAGTGCTCTCTTTAGGCTAGTGAGAACACAGGTTTTAAAGTCAGAAAAGCTGTGTTGGAATACTAATTCATTTATTCACAAGGAGCATGGCCTGGGAGTGGCCAGTTTATCTCTCAGAGCCTTAGTTTCCTCATCAGTAAAATAAGACTGTCAATCCTACCTGCTTCACAGTGTTGTACAGTTTAAGTCAGGTAATGTCGGCAGCACATTAAGCAAAATTCTGAGCACATTGTAGTTGCTCAAAGCATGATGCATTTGTGCAAAATGGCAGGAAATCCAAAGACAGAGAAGTCTGGCTCAGAATATAAAAAAGATGTACTCTGGAATGGGTCAGTGATCCCCACCAGCCACAAGGGGCTTTTAAACCAACATCTACAGAATTCTTACCTTGCTGTGTATATTTCAGCTAGGCCAATAACAAGAGGCTTTTTGCATTTTTCATAATGTTTCATGACAACTGGGGGAAGGATGGAACACAGAAGACAAAAGGTTCAAACTGGCATTTATTAAGTAGCTGCCATTCCCATCCTATAGACATTGGTCAAGGAGGACTTGCAAACAGTAGACTAGGGGAGCACCGACCATGCCCAATCCCTTTGCTCACCCTACAATTGGCCAAGAAGCCTATTCTGGAAAAATGTATGTACCTAGTTGCCCAAGCCCATAAGCCAGGAGTTATTGTTTTACTTCCCCCTTCTCTCTTCCTTCACATCCAGCAATCAATTTCTGCCCATTCTACCATTCAAACATCTGAGTCTGTCCTTCCTACTTCATTCTCACTGCTGCACCTGCATTCGACCACCAC T . . ALLELEID=1053684;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102865713_102871066del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 12 102866369 1065382 GTAATTTTGTTTTGTCTAGCAGCAATCATTTTTTATCATGTGTTATTAAAGGGAGGGTTTAAACACACCCCCACACACACATACACGCATGCACATGAACACATGCACACACAGAAGGCAGGACTCTTCATGCTGGTATTTTCCATCCTCAACTGGATGAGGGCAAGGGAGAAGCAGGCTAGGGGTGTGTTTTTCTCTCTTCCCCTCAACAAGCAAGGCAGACTTACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAACCCTAGGAGAAAAGAGACACCTGATTTTTCAAGGCTTCATAGGAAGAGGTCTGGTACCTTTATGAATGCTTTGAATGGGGGCTCTCAAGCCATGACAGTGCATGTCTCCTTCCCTTGGTTATACCCTAAAACTAAAGTCTCGGTTAAACTTAGCTCTCCTACCAGATATTGTGAGTGACACCTTATTAGTAACTTCTTTGATTTAGCATGAGCCTCCTTGCTGTGGATTCCAATGTGCATGATCTGTTCTTAAAGAAACCTCATCTACAGCATATCTGACTGACACACTTGCTAAACTAAGCAAAGTTCATAGGATGGATGTCTATGATGAAGATGTACAATATCCATTTAATTCCTGATTAAGGTTTGTGTCTAGCTCTACCTTTTAATTTCTTGATAGACGAGCAGGCACATGCTTATTGCTCTTGCAATTTTTAAAAATACCATTGATTAAATACATACTATGTGCCAGTTTGTGAGTACTAGGAACTGATTTTACATATAATTCTCACAACAAACTTGCGAGTTCGATGAGTATGATTATCCTGTTCTTTCCGGAATAAATGGTGGTTCAGAGAAGTGGATCCATAGTGACGGTGAGGCTGGGATTTGGATCACCATCAGTAATTGTCAGCCTTTACAATCTGGCAGGGGCCTAGCTAACTGAGAGTCTGTCTCAGGACCTAAAAAGGATGATAATGGAGTCTCCTCTGAAGCTGATTCACAGGCAGCCTTTTCCCAGTGATTTGTAAGCAGCACATTTCCGAGTGAAAGGAGGCTAAGTGTGTCTTTGAGTGTTTGGGGTGGAAATGGGATTCCAACTGATTGAAAGACAATTTTCCAAAAACAGTTGATTGCAGTCTAAATTTTGGTAAGACAAGAGACTGATATCATTTCCGTAGAACTCTGCTGTGGTTCTTCCAAGCCTTTCCCAGTAAGCCATGCCATCCACCACTTTAGCTCACAATTTCTCTGCTCCACTGTCCCTCCAAACCAAGGCAGTAGTGAATTCAAAACAAAAGCTTATGTCACAGAGTGTAATGTTTAAAGGAGACTTTTAAAAAGAGAAATATTCCCTGATTTTTAGATTTGTTTTTTGTTTTGGTTGCTTGATTGGTTGAATTTTTGTTTTGGGAGAGTTTTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCCCCCTCTCTCTCTCTATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATACATATATAGATGTATATATACATGTATATATAGATGTATATTACATGTATATATGTATATACATATATACATATATACATGTATATACACC G . . ALLELEID=1053685;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866372_102868042del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 12 102866495 987908 T G . . AF_TGP=0.30272;ALLELEID=975881;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866495T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10860933 12 102866594 102681 ACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC A . . ALLELEID=108417;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866596_102866663del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:EX5del955;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=199475649 12 102866595 102707 C T . . AF_EXAC=0.00001;ALLELEID=108443;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866595C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS5+1G>A;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=63102461 12 102866597 92744 G C . . ALLELEID=98651;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866597G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_011569|DeBelle_Laboratory_for_Biochemical_Genetics:p.H170D|HGMD:CM011946;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475655 12 102866599 446524 C G . . ALLELEID=440042;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866599C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=5;RS=199475679 12 102866599 102706 C T . . AF_EXAC=0.00026;ALLELEID=108442;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640,Orphanet:ORPHA13|MedGen:CN517202;CLNDN=Phenylketonuria|BH4-deficient_hyperphenylalaninemia_A|not_provided;CLNHGVS=NC_000012.12:g.102866599C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R169H|Illumina_Laboratory_Services,Illumina:438722|UniProtKB_(protein):P00439#VAR_011568;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=9;RS=199475679 12 102866600 125436 G A . . AF_EXAC=0.00002;ALLELEID=130974;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866600G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865440 12 102866600 551103 G C . . ALLELEID=547160;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866600G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865440 12 102866600 932262 G T . . ALLELEID=920581;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866600G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865440 12 102866601 120277 G T . . ALLELEID=125871;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866601G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=281865455 12 102866601 102705 GT G . . AF_EXAC=0.00001;ALLELEID=108441;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866602del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y168>Sfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475661 12 102866605 92743 T A . . ALLELEID=98650;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866605T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM981434|UniProtKB_(protein):P00439#VAR_000906|DeBelle_Laboratory_for_Biochemical_Genetics:p.N167I;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77554925 12 102866605 102703 T C . . AF_ESP=0.00554;AF_TGP=0.00439;ALLELEID=108439;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866605T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.N167S|UniProtKB_(protein):P00439#VAR_011567;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77554925 12 102866606 1065373 T A . . ALLELEID=1053686;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866606T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102866607 102702 G T . . ALLELEID=108438;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866607G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y166X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=199475645 12 102866611 805818 G T . . ALLELEID=794128;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866611G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1592961381 12 102866612 102701 C G . . AF_EXAC=0.00001;ALLELEID=108437;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866612C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.A165P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475626 12 102866612 102700 C T . . ALLELEID=108436;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866612C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.A165T;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475626 12 102866615 102698 T C . . AF_EXAC=0.00002;ALLELEID=108434;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866615T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.I164V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475647 12 102866632 102694 C G . . ALLELEID=108430;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866632C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R158P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5030843 12 102866632 587 C T . . ALLELEID=15626;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866632C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838466|HGMD:CM890093|DeBelle_Laboratory_for_Biochemical_Genetics:p.R158Q|UniProtKB_(protein):P00439#VAR_000901|OMIM_Allelic_Variant:612349.0010;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=5;RS=5030843 12 102866633 102693 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=108429;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866633G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R158W|UniProtKB_(protein):P00439#VAR_000902;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=75166491 12 102866635 619162 C G . . ALLELEID=610556;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866635C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475611 12 102866641 102687 C G . . ALLELEID=108423;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866641C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_009242|DeBelle_Laboratory_for_Biochemical_Genetics:p.R155P;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475663 12 102866641 102686 C T . . AF_EXAC=0.00002;ALLELEID=108422;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866641C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R155H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475663 12 102866641 987780 CG C . . ALLELEID=975753;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866643del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1875984331 12 102866642 554011 G A . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=546923;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866642G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=539743701 12 102866643 987879 G T . . ALLELEID=975852;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866643G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1191473722 12 102866644 619705 T A . . ALLELEID=611103;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866644T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842423;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565853526 12 102866644 1185011 T C . . ALLELEID=1174953;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866644T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1 12 102866645 102685 A G . . ALLELEID=108421;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866645A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Y154H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475587 12 102866645 102684 A T . . ALLELEID=108420;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866645A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000899|DeBelle_Laboratory_for_Biochemical_Genetics:p.Y154N;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475587 12 102866662 552657 C A . . ALLELEID=546821;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866662C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555205655 12 102866662 872837 C T . . ALLELEID=861000;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866662C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555205655 12 102866663 872834 C G . . ALLELEID=861001;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866663C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80297647 12 102866663 102680 C T . . ALLELEID=108416;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866663C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G148S|UniProtKB_(protein):P00439#VAR_000897;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80297647 12 102866664 1065375 C G . . ALLELEID=1053687;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866664C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 12 102866664 594 C T . . ALLELEID=15633;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102866664C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0024|OMIM_Allelic_Variant:612349.0018|DeBelle_Laboratory_for_Biochemical_Genetics:IVS4-1G>A;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=62514907 12 102866665 120276 T G . . ALLELEID=125870;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866665T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=281865448 12 102866677 987773 G A . . AF_EXAC=0.00005;ALLELEID=975746;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102866677G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=775806999 12 102866681 439227 C T . . AF_ESP=0.00008;AF_EXAC=0.00015;AF_TGP=0.00040;ALLELEID=432710;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374;CLNDN=Phenylketonuria|not_specified;CLNHGVS=NC_000012.12:g.102866681C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149538764 12 102877456 102675 A G . . ALLELEID=108411;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877456A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS4+6T>C;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199475698 12 102877456 120275 A T . . AF_EXAC=0.00001;ALLELEID=125869;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877456A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199475698 12 102877457 92742 C A . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=98649;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877457C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS971841|DeBelle_Laboratory_for_Biochemical_Genetics:IVS4+5G>T;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507321 12 102877457 987910 C T . . ALLELEID=975883;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877457C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507321 12 102877458 102674 T C . . ALLELEID=108410;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877458T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS4+4A>G;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508586 12 102877459 102672 C G . . ALLELEID=108408;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877459C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.IVS4+3G>C;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62508642 12 102877460 987776 A C . . ALLELEID=975749;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877460A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1876618843 12 102877460 987760 A T . . ALLELEID=975733;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877460A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1876618843 12 102877461 556894 C G . . ALLELEID=546620;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877461C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62517166 12 102877461 102671 C T . . AF_ESP=0.00008;ALLELEID=108407;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877461C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS4+1G>A;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62517166 12 102877462 987766 A G . . ALLELEID=975739;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877462A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1386014129 12 102877463 102670 G A . . ALLELEID=108406;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877463G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P147L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475694 12 102877464 102669 G A . . ALLELEID=108405;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877464G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.P147S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475624 12 102877469 102667 T A . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=108403;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877469T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:679193|DeBelle_Laboratory_for_Biochemical_Genetics:p.D145V|UniProtKB_(protein):P00439#VAR_011566;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140175796 12 102877492 102665 G A . . ALLELEID=108401;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877492G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:303560|DeBelle_Laboratory_for_Biochemical_Genetics:p.S137S;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1801146 12 102877504 729975 A G . . AF_ESP=0.00015;AF_EXAC=0.00030;ALLELEID=738397;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877504A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:686561;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145692106 12 102877517 102662 T A . . ALLELEID=108398;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877517T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:D129V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475623 12 102877517 102661 T C . . ALLELEID=108397;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877517T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.D129G;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475623 12 102877523 872833 T C . . ALLELEID=861002;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877523T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1876625601 12 102877524 549954 C T . . ALLELEID=547165;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877524C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555206565 12 102877535 102658 C A . . ALLELEID=108394;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877535C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:R123I;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475681 12 102877539 987906 G A . . ALLELEID=975879;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877539G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1466564208 12 102877541 619155 A G . . ALLELEID=610557;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877541A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565859485 12 102877542 872832 A C . . ALLELEID=861003;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877542A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1876627337 12 102877544 102656 C T . . ALLELEID=108392;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877544C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.W120X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=199475586 12 102877548 92741 G A . . AF_EXAC=0.00035;AF_TGP=0.00020;ALLELEID=98648;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877548G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM043044;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=398123292 12 102877552 872840 T C . . ALLELEID=861004;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102877552T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1876628624 12 102877556 102655 A T . . ALLELEID=108391;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102877556A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS3-6T>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62517195 12 102877572 102654 G A . . AF_ESP=0.19676;AF_EXAC=0.27612;AF_TGP=0.31649;ALLELEID=108390;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102877572G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS3-22C>T;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2037639 12 102894736 120274 TG T . . ALLELEID=125868;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894737del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281865428 12 102894737 120273 G A . . AF_EXAC=0.00001;ALLELEID=125867;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894737G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:937830;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865439 12 102894739 635217 GTC G . . ALLELEID=623049;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894741_102894742del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=1592978629 12 102894756 581 G A . . AF_EXAC=0.00005;ALLELEID=15620;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894756G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0005|DeBelle_Laboratory_for_Biochemical_Genetics:p.R111X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=76296470 12 102894758 987778 GAAAGC G . . ALLELEID=975751;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894759_102894763del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1877424058 12 102894767 225134 T C . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=227029;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894767T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=9;RS=542645236 12 102894768 92740 GGACAGTGGC G . . AF_EXAC=0.00001;ALLELEID=98647;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894769_102894777del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=398123291 12 102894776 102650 G T . . AF_EXAC=0.00003;ALLELEID=108386;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894776G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000892|Illumina_Laboratory_Services,Illumina:712688|DeBelle_Laboratory_for_Biochemical_Genetics:p.A104D;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642929 12 102894786 553851 C T . . ALLELEID=546629;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894786C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555207979 12 102894788 306914 T C . . AF_ESP=0.00046;AF_EXAC=0.00025;ALLELEID=315838;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374;CLNDN=Phenylketonuria|not_specified;CLNHGVS=NC_000012.12:g.102894788T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:649028;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148393887 12 102894794 627 A G . . AF_EXAC=0.00001;ALLELEID=15666;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:C2678416|MedGen:CN517202;CLNDN=Phenylketonuria|Mild_non-PKU_hyperphenylalanemia|not_provided;CLNHGVS=NC_000012.12:g.102894794A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000891|OMIM_Allelic_Variant:612349.0053|DeBelle_Laboratory_for_Biochemical_Genetics:p.L98S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62517167 12 102894795 805817 A C . . ALLELEID=794129;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894795A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1592978725 12 102894798 376937 T G . . AF_ESP=0.00069;AF_EXAC=0.00014;AF_TGP=0.00100;ALLELEID=363815;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894798T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142516271 12 102894800 604 TTGA T . . ALLELEID=15643;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894803ATG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.I95_K96delinsK|OMIM_Allelic_Variant:612349.0030|Invitae:2440495;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=62508727 12 102894802 987765 G A . . ALLELEID=975738;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894802G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1877427309 12 102894802 120272 GA TG . . ALLELEID=125866;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894802_102894803delinsTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865432 12 102894807 883981 T C . . AF_EXAC=0.00007;AF_TGP=0.00100;ALLELEID=869145;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894807T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:277846;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=528078207 12 102894820 805816 A AC . . ALLELEID=794130;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894820_102894821insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1592978760 12 102894820 102642 A AG . . ALLELEID=108378;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894822dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4909325;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=62506950 12 102894830 102638 CGTTTATCCAAATGGGT C . . ALLELEID=108374;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894832_102894847del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.T81_R86>VfsX6;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=63749677 12 102894834 932263 T A . . ALLELEID=920582;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894834T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1877430029 12 102894845 208180 G T . . ALLELEID=204456;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894845G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=796064502 12 102894854 872831 T A . . ALLELEID=861005;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894854T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1877431301 12 102894855 872830 C G . . ALLELEID=861006;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894855C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62507326 12 102894863 619157 T A . . ALLELEID=610558;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894863T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565866547 12 102894863 619158 T C . . ALLELEID=610559;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894863T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565866547 12 102894864 987769 C G . . ALLELEID=975742;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894864C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767453024 12 102894875 120271 C CGAGAAG . . ALLELEID=125865;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894877_102894882dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PAH:5053;MC=SO:0001821|inframe_insertion;ORIGIN=1;RS=281865431 12 102894875 102633 C T . . ALLELEID=108369;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894875C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R71H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62508695 12 102894876 102632 GAGA G . . ALLELEID=108368;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894879_102894881del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S70del;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=62642094 12 102894878 987767 G A . . ALLELEID=975740;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894878G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1877434368 12 102894880 805815 A AG . . ALLELEID=794131;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894882dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1592978901 12 102894883 92738 T A . . AF_EXAC=0.00004;ALLELEID=98645;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894883T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000885|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829548|DeBelle_Laboratory_for_Biochemical_Genetics:p.R68S|HGMD:CM920542;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=76394784 12 102894885 102627 T C . . ALLELEID=108363;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894885T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R68G;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475639 12 102894891 120270 C A . . ALLELEID=125864;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894891C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=281865454 12 102894892 805814 AATGTG A . . ALLELEID=794132;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894893_102894897del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1592978950 12 102894893 636 A G . . AF_EXAC=0.00018;ALLELEID=15675;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894893A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0063|HGMD:CM920541|DeBelle_Laboratory_for_Biochemical_Genetics:p.I65T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2607076|UniProtKB_(protein):P00439#VAR_000883;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=9;RS=75193786 12 102894893 102623 A T . . ALLELEID=108359;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894893A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.I65N|UniProtKB_(protein):P00439#VAR_000882;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=75193786 12 102894896 805813 T TGG . . ALLELEID=794133;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894898_102894899dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=672601294 12 102894896 102621 TG T . . ALLELEID=108357;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894899del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=672601294 12 102894897 102620 G T . . ALLELEID=108356;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894897G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:[p.T63P,p.H64N]__1;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475569 12 102894900 102619 T G . . ALLELEID=108355;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894900T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:[p.T63P,p.H64N];GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475568 12 102894902 805811 A ATCAG . . ALLELEID=794134;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894902_102894903insTCAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1592978986 12 102894902 872838 A G . . ALLELEID=861007;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894902A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1877437661 12 102894902 805812 AG A . . ALLELEID=794135;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894904del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1592978992 12 102894903 619149 G C . . ALLELEID=610560;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894903G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1565866640 12 102894904 102618 G C . . AF_EXAC=0.00002;ALLELEID=108354;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894904G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.N61K;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475634 12 102894911 619154 T A . . ALLELEID=610561;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894911T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475672 12 102894911 102616 T C . . ALLELEID=108352;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894911T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.D59V;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475672 12 102894914 805810 TTC T . . ALLELEID=794136;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894915TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1592979013 12 102894915 102613 TCTC T . . ALLELEID=108349;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894918_102894920del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.E57del;GENEINFO=PAH:5053;ORIGIN=1;RS=199475665 12 102894918 120268 C A . . ALLELEID=125862;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894918C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=140945592 12 102894918 92737 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=98644;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894918C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM110419;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140945592 12 102894919 987775 C T . . ALLELEID=975748;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894919C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1877439517 12 102894920 555212 T C . . ALLELEID=546632;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102894920T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1226613045 12 102894931 102611 A C . . ALLELEID=108347;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102894931A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS2-13T>G|Illumina_Laboratory_Services,Illumina:716176;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507341 12 102912772 92736 A G . . AF_ESP=0.20691;AF_EXAC=0.19427;AF_TGP=0.21685;ALLELEID=98643;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102912772A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CS135060|DeBelle_Laboratory_for_Biochemical_Genetics:IVS2+19T>C;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=17842947 12 102912785 102608 A C . . ALLELEID=108344;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912785A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS2+6T>G;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62516144 12 102912786 102607 C A . . ALLELEID=108343;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912786C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS2+5G>T;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507288 12 102912786 102605 C T . . ALLELEID=108341;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912786C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:IVS2+5G>A;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62507288 12 102912789 805828 A G . . ALLELEID=794137;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912789A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1025860114 12 102912790 805827 C A . . ALLELEID=794138;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912790C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62514898 12 102912790 102604 C T . . ALLELEID=108340;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912790C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:[p.E56E,IVS2+1G>A]__1;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=62514898 12 102912790 188771 CC TT . . ALLELEID=186846;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912790_102912791delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=PAH:5053;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=786204457 12 102912791 102610 C A . . ALLELEID=108346;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912791C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.E56D|UniProtKB_(protein):P00439#VAR_000880;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475567 12 102912791 102609 C T . . ALLELEID=108345;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102912791C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:[p.E56E,IVS2+1G>A];GENEINFO=PAH:5053;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199475567 12 102912793 611 CA C . . ALLELEID=15650;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912796del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.F55>Lfs|OMIM_Allelic_Variant:612349.0037|Invitae:4909455;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475566 12 102912795 120266 A G . . ALLELEID=125860;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912795A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=281865438 12 102912798 102602 A G . . ALLELEID=108338;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912798A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L54S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475677 12 102912801 102601 C T . . AF_ESP=0.00062;AF_EXAC=0.00175;AF_TGP=0.00300;ALLELEID=108337;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102912801C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000878|DeBelle_Laboratory_for_Biochemical_Genetics:p.R53H|Illumina_Laboratory_Services,Illumina:61345;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118092776 12 102912802 102600 G A . . ALLELEID=108336;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912802G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.R53C;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475619 12 102912803 120310 CA C . . ALLELEID=125904;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912805del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=281865165 12 102912816 608 A G . . AF_EXAC=0.00008;ALLELEID=15647;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912816A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000877|HGMD:CM910281|OMIM_Allelic_Variant:612349.0034|DeBelle_Laboratory_for_Biochemical_Genetics:p.L48S;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=17;RS=5030841 12 102912819 630 G A . . ALLELEID=15669;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912819G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_000876|DeBelle_Laboratory_for_Biochemical_Genetics:p.A47V|OMIM_Allelic_Variant:612349.0056;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118203925 12 102912821 102597 AC A . . ALLELEID=108333;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912823del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.G46>Vfs;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475591 12 102912823 619156 C G . . ALLELEID=610562;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912823C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74603784 12 102912823 629 C T . . AF_EXAC=0.00012;ALLELEID=15668;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912823C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0055|DeBelle_Laboratory_for_Biochemical_Genetics:p.G46S|UniProtKB_(protein):P00439#VAR_000875;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74603784 12 102912825 805809 A G . . ALLELEID=794139;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912825A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1592988883 12 102912832 557124 C A . . ALLELEID=547168;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912832C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555209575 12 102912832 552279 CTTT C . . ALLELEID=546833;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912833_102912835del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=1555209578 12 102912834 102581 T A . . ALLELEID=108317;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912834T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.K42I|UniProtKB_(protein):P00439#VAR_000874;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62635346 12 102912837 102573 A G . . ALLELEID=108309;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912837A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L41P|UniProtKB_(protein):P00439#VAR_009240;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642916 12 102912838 102569 G A . . ALLELEID=108305;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912838G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.L41F|UniProtKB_(protein):P00439#VAR_000873;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642928 12 102912842 605 G C . . AF_EXAC=0.00009;ALLELEID=15644;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912842G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0031|Illumina_Laboratory_Services,Illumina:456044|DeBelle_Laboratory_for_Biochemical_Genetics:p.F39L|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829382|HGMD:CM910280|UniProtKB_(protein):P00439#VAR_000870;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642926 12 102912847 102531 T TC . . ALLELEID=108267;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102912848dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.I38fsX19;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=199475674 12 102912849 225133 A G . . ALLELEID=227030;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912849A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=17;RS=869312996 12 102912901 872844 A G . . ALLELEID=861008;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102912901A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1878260066 12 102917009 585207 G A . . AF_ESP=0.37714;AF_TGP=0.36362;ALLELEID=576256;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN169374|MedGen:CN517202;CLNDN=Phenylketonuria|not_specified|not_provided;CLNHGVS=NC_000012.12:g.102917009G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=5;RS=1522296 12 102917064 805829 GGC G . . ALLELEID=794140;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917065_102917066del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1592991131 12 102917066 932280 C G . . ALLELEID=920583;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917066C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62514895 12 102917067 805806 T A . . ALLELEID=794141;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917067T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1592991145 12 102917071 102757 C G . . ALLELEID=108493;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917071C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:Q20H;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475688 12 102917072 102749 T A . . ALLELEID=108485;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917072T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P00439#VAR_009239|DeBelle_Laboratory_for_Biochemical_Genetics:p.Q20L;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475662 12 102917072 805805 T G . . ALLELEID=794142;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917072T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199475662 12 102917073 102744 G A . . ALLELEID=108480;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917073G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.Q20X;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=199475585 12 102917082 805804 C CA . . ALLELEID=794143;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917083dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=1592991176 12 102917082 102696 CAG C . . ALLELEID=108432;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917083AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=HGMD:CD951813|DeBelle_Laboratory_for_Biochemical_Genetics:p.S16>XfsX1;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=1;RS=62642906 12 102917083 805802 A AAG . . ALLELEID=794144;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917083_102917084insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1592991184 12 102917084 805803 G T . . ALLELEID=794145;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917084G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1592991188 12 102917085 102689 A G . . ALLELEID=108425;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917085A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.S16P|UniProtKB_(protein):P00439#VAR_000869;GENEINFO=PAH:5053;MC=SO:0001583|missense_variant;ORIGIN=1;RS=62642946 12 102917087 805801 A ACT . . ALLELEID=794146;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917087_102917088insCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1592991196 12 102917099 625287 A T . . ALLELEID=613622;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917099A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001587|nonsense;ORIGIN=33;RS=1346707834 12 102917100 805800 A AG . . ALLELEID=794147;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917101dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1592991220 12 102917117 805799 AC A . . ALLELEID=794148;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917119del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PAH:5053;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1592991243 12 102917128 585206 C G . . ALLELEID=576257;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Phenylketonuria;CLNHGVS=NC_000012.12:g.102917128C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=5;RS=62514893 12 102917128 622 C T . . ALLELEID=15661;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917128C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.M1I|OMIM_Allelic_Variant:612349.0048;GENEINFO=PAH:5053;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=62514893 12 102917129 102647 A C . . ALLELEID=108383;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917129A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:p.M1R;GENEINFO=PAH:5053;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=62508575 12 102917129 203873 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=200225;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917129A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PAH:5053;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=62508575 12 102917130 102626 T A . . ALLELEID=108362;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917130T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=DeBelle_Laboratory_for_Biochemical_Genetics:M1L;GENEINFO=PAH:5053;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=62514891 12 102917130 586 T C . . AF_EXAC=0.00001;ALLELEID=15625;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917130T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:612349.0009|DeBelle_Laboratory_for_Biochemical_Genetics:p.M1V;GENEINFO=PAH:5053;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=62514891 12 102917201 102463 T G . . AF_ESP=0.15856;AF_TGP=0.12600;ALLELEID=108199;CLNDISDB=MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716|MedGen:CN517202;CLNDN=Phenylketonuria|not_provided;CLNHGVS=NC_000012.12:g.102917201T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:11355|DeBelle_Laboratory_for_Biochemical_Genetics:-71A>C;GENEINFO=PAH:5053;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=2280615 12 102917537 638 TGGACTAAGCCTGCGACCGTCTGGTATAACAATTATATGAATAATCCGCCCCCCTTACCCCCAGCTGAAACAGTCAGGATTCTCATTTAGATTTTTGTTGTTGTTGTTTTCCCTTCTGTTAACCTCTAAGCACACTGCCTTGCTGTGCGCTGACTTCAGAAAACTACAGCTAGAGGGCACGTGAACGCTGAGCACAGCAGGTAAAGAGCAAATGTAAGAGCGATCTGGGTTTAAATCCAGCCTGGTGTTCTCCAGCTATTCGCACAACTGCTCCTGAAGCTCGGAAAAGAGGGTGGTAGAGCCACCTTGCTGGAAGGTTTTAAGAATAGGAATAAAGAAATGCATTAAAATTTAGTACAGTTCTTCCACATAAACACTCAGTAAATGGAAGATATTGTTTAAAAGCAAATCCACATAAATTTGACAATAATTACTGAGACCTGTACCGTGTGCTTGGTGGTGTTCTAGTCTTTGGGAATACAGCAATGAACAAAACAGACTCTGCCTCCCCAGCTATGCTGCCATTCTGGTGGGCAGAAAATAAACATATAAATAAGTTTAGGTAGGGCTAAGTCTTTTGAAGAAAGTAAAGTAGGGGGATGGTCTATGAGTGAGCTGGTGGGATTTGGCCAGTGGTCTTCAAATAGTCAGGAAGATGCCATTAACCACACTTTTAGAGAAGACTGAGGGTGAGGCATTACTGACCAGGAGGTAAAACAAAGTATAAAAGAATGCTGGAAAGCAGGTTCAGAGGTTCAGAAAGGATGTGAAAACTCAGGGGCCTCAAGCCTTGAGTGCCTGCTTAATATTTTCCCAAGAGAAAGTAATGGGCTGTAAGAAAATAAGCCAATAATAAAGGTTGCTGGAAGCCCATCCCTCTCCTCCCACTGTTCTTTGACCAAGCATCTGAAAATAAATAAACAAATAAATAAATAAATAAGTAAAATAAAACTCAGGTTTAGGATTCAAAACAAGTGGTTTAACTCTTGGTTCTACCACTGATTTGGTCAAGCCCATGCCTCAGTTTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTTGTCTTTAAAATGAGAATTTTAAGGGATATTTAGGATTCCTTAAGCCTTTATGATGTGCCAGGCTGTCTACTGTCTGCTAAGAATACAGATATAACAAGTGCAATTTCTGTCCAAAAGGAACCTTTAGGGGCCTGATGAATATTTCCCATAGTAAGTTGGAAGCTCAATGTTGTTAAATATTGAAGGCGAAGATCTTGATTTCCATCCTCAGGAGAATCTGTATTCTTTATCTGACTCCGGCATTTTTCAGTGTAGTAGACATAAAACATGTTGTATTCCTCAGCCTCAGGATTTTCTTACAAACATAATTTCATCCCTTGATGCTACTTGAGGGCAATGAATGTGACAACTCCAAAAATATTACAGGCATGCAATAAAGAAAAGCAAAGAATATTATCTACTTATTTGCATGCACACTCTGTCTTAGACACTGTGCCACGCTCTCCACGTGCATGGTTTCACTTCTTCCTCTTAACAATCCCATGAACTATGCACTCCCTTTTAATAGGCAAGAAACTGAGGCCTAGGAAGTTTAAACAAATGGCCCAAATTCAATCTATGTTTCACCCAACACCAAGGCACTGCACTGGCTCTCAAATACTTTTGCTTTCCTGTTTGAAATGAGGACAACATAATTTTTAGGACAACAAAATGATAGCTTTTCTTTCTTCTCCCCATAACAGCTGAAAATGCAACTCTTTTTTCTAATGTTTAATTTTTGTGGGAACATAGTAGATGTATGCATTCATGGAGTATGTGCAATATTTTGATACAGGCATGCAATGTGTAATAATCACATCATTGAAAATGGGGCATCCATCCCCTCAAGCATTTATCTTTTGTGTTGCAAACAAGCCAATTATACTCTTTCAGGTATTTTTAAATGTATAATTAAATTATTTTGACTATATTCGCCCTGTTGTACTATCAAATACTAGGTCTTATTCATTCTTTCTATATTTTTTTGTACCTATTAACCATCTCCACCTCCCCTCCAGGCCCCTACTACCCTTCCCCACCTCTGGTAATTAGCTCTCTACTCTCTAGCTCCATGAATCAGATTGTTTTGATTTTTAGACCCCACATATGAGTGAGAATATGTGATGTTTGGCTTTCTGTGCCTGGCTTATTTCATTTGACATAATGACCTCCAGTTCTGTCCATGTTATTGCAAATAACAGGATCTCATTCTTTTTTATTGCTGAATAGTACTCCATTGTGTATTAAAGTACCACATTTTTTTAAAACCCATGTTGATGGAGACTTGGGTTGCTTCCAGATCTTGGCTATTGTGAACAGTGCTGCAACAAACATAAAAGAACAGACATCTCTTTGATATACTGATTTCCTTTCTTATAGGTATATACCCAGCAGTGGGATCACTAGATCATATAGTAGCTCTATTTTTAGTTTTTTGGGGAACTGCCAAACTGTTCTCCATAGTGGTTGTACAAAAATGGAATTTTTAATCCTATCTCACATAAAAATGCCCTAAATCTAGGTTGAGAGGAAAGCACATCATTGCTATCTGAGAGAAGAAAAACTAATCGCTTCTTTAAAAAAAATTATTCTGGCAAAAAGGAAAAATTTATTTATGCACTAAGATAAAAATAAGAGATTGCTTGTGCCATAAACTTGCAGATGATTTTTAAGCCACCTTTTTGTTCAATTTGGTTGGAATGCAATGTGCTGCTATAATGAGAGCAGTGCTGGGTGCTAAGGAAATGGAGGAAAAAAAGGCACATCTAGAAGAAGCATCCACAGTCAGTCAGTAGACCACTGAGGTATTTTTTAACACTGCACAGAGGTGGGGAACATGTCACAAGATGAGAAGTTGTGTACTTGGCAAACTTAGAGCTGACCTTTGCTGATTTGGAAGTTGAAGATTACCCAACCATTGCAGGTTTATCAGTTCTTTCTTGTTTATCTTCATGTGCAGAAGGTTGAGTTAATCATAATCCATGAGTTCATGGCACAGAAACAAAACCTACATGACCCTTCTCTTGTTTTTTTATTCATTCTCTTTTATCATAATTCCTCACTCTCACTGCCTTTCCCCAGAGGCAACTTCTCTAATATGATGTTTAGCCTTGAACTTGTAAAATACATAGAAATGTTTGTGCGTATATGTATTTTTCATGGATATGTGATGTGGCACTATAGATTTACTACAATCTATGGATGTACTATAGATTTCATAGTTTCTTTTTTCTTTCAACTGTGTTCTTAGGATCCAGCCATGCTGCTGAATATGTATCTAGTTCTTTGCTTTTCTAAATGGTTCAGAATATCCCAGTGTGTATTTGCCACACTTGACTTCTTTATTTTCCAGTTATGGACATCTAAGTCATTGCTAATTTTTCACCACCCCAAACAATACTGTGATAAATTTCCTTATCTTTCTTCCCTTATAGGCCTGGGGTAGAAATTTTCTGGGATAGAAGAGTGGTGCTATTATGAATCATAGGGAACATGCACTCTTAATTTCACAAAGTGCTGCCAGATTGCCCTTTAGAGTGGCTTGGACCAGTCTACACACCAACCAGCAGGCAAAAGAGTTCCTATTGGTGGGTATACCTAATATGTGGTATTCTCCAAAGGTCAGAATTTTTGCCAATCTGATCAGCATAAGCTGGTGTCTTGTTGTTTTTAATTTGAATTTCTCTCATAACTCATGAGTTTGAGCATCTCTTTATATACTTA T . . ALLELEID=15677;CLNDISDB=Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:ORPHA716;CLNDN=Hyperphenylalaninemia,_non-pku|Phenylketonuria;CLNHGVS=NC_000012.12:g.102917538_102921296del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:612349.0066;DBVARID=nsv1197550;GENEINFO=PAH:5053;MC=SO:0001627|intron_variant;ORIGIN=1 12 111803962 18390 G A . . AF_EXAC=0.02129;AF_TGP=0.03574;ALLELEID=33429;CLNDISDB=.|MONDO:MONDO:0007079,MedGen:C0001973,OMIM:103780|MONDO:MONDO:0012454,MedGen:C2674838,OMIM:610251|MONDO:MONDO:0030894,MedGen:C5436906,OMIM:619151|MedGen:C2608086|MedGen:C2676227|MedGen:C3149226;CLNDN=ethanol_response_-_Toxicity|Alcohol_dependence|Acute_alcohol_sensitivity|AMED_syndrome,_digenic|Susceptibility_to_hangover|Sublingual_nitroglycerin,_susceptibility_to_poor_response_to|Esophageal_cancer,_alcohol-related,_susceptibility_to;CLNHGVS=NC_000012.12:g.111803962G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P05091#VAR_002248|OMIM_Allelic_Variant:100650.0001;GENEINFO=ALDH2:217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=671 12 112446309 44608 A G . . AF_ESP=0.00015;AF_EXAC=0.00028;ALLELEID=53775;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN169374|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Rasopathy|LEOPARD_syndrome_1|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112446309A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:44c75d04-cfb3-4a52-840e-30d2eb641915|Illumina_Laboratory_Services,Illumina:782499;GENEINFO=PTPN11:5781;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372736227 12 112446314 135112 A G . . AF_EXAC=0.00012;ALLELEID=138851;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN169374|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Rasopathy|LEOPARD_syndrome_1|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112446314A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:295145|ClinGen_RASopathy_Variant_Curation_Expert_Panel:b05eb983-c118-4f08-88a9-d168d803a9d0;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587778635 12 112450335 40484 C T . . ALLELEID=48954;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112450335C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:85863|ClinGen_RASopathy_Variant_Curation_Expert_Panel:c650daaa-d00c-411a-9439-fe0b0570e53e;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507503 12 112450346 40485 A G . . ALLELEID=48955;CLNDISDB=MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_1|Noonan_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112450346A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:43db1167-715a-4f5d-8517-8487caffe8af;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=49;RS=397507504 12 112450347 477669 T C . . ALLELEID=462420;CLNDISDB=MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy;CLNHGVS=NC_000012.12:g.112450347T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2a9a7233-77c0-4d04-a2e1-0a1ac478a404;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1052382672 12 112450364 13329 T G . . ALLELEID=28368;CLNDISDB=Human_Phenotype_Ontology:HP:0001508,Human_Phenotype_Ontology:HP:0001535,Human_Phenotype_Ontology:HP:0008853,Human_Phenotype_Ontology:HP:0008878,Human_Phenotype_Ontology:HP:0008916,MedGen:C2315100,SNOMED_CT:432788009|Human_Phenotype_Ontology:HP:0001643,MONDO:MONDO:0011827,MedGen:C0013274,OMIM:PS607411,Orphanet:ORPHA706,SNOMED_CT:83330001|Human_Phenotype_Ontology:HP:0001667,MedGen:C0162770|Human_Phenotype_Ontology:HP:0001684,Human_Phenotype_Ontology:HP:0200131,MONDO:MONDO:0020434,MedGen:C0344724,Orphanet:ORPHA99103|Human_Phenotype_Ontology:HP:0004753,Human_Phenotype_Ontology:HP:0005180,MONDO:MONDO:0002870,MedGen:C0040961|Human_Phenotype_Ontology:HP:0005164,MedGen:C1866206|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Failure_to_thrive|Patent_ductus_arteriosus|Right_ventricular_hypertrophy|Secundum_atrial_septal_defect|Tricuspid_regurgitation|Dysplastic_pulmonary_valve|Juvenile_myelomonocytic_leukemia|Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000012.12:g.112450364T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM021128|OMIM_Allelic_Variant:176876.0009|UniProtKB_(protein):Q06124#VAR_015605;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=33;RS=121918460 12 112450368 13333 A G . . AF_EXAC=0.00001;ALLELEID=28372;CLNDISDB=Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:ORPHA223735|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:C3472624|MedGen:CN517202;CLNDN=Lymphoma|Juvenile_myelomonocytic_leukemia|Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome_3|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|B_lymphoblastic_leukemia_lymphoma,_no_ICD-O_subtype|not_provided;CLNHGVS=NC_000012.12:g.112450368A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:176876.0008|ClinGen_RASopathy_Variant_Curation_Expert_Panel:579af108-04e2-4cf7-9a40-35cbaa82b116|Undiagnosed_Diseases_Network,NIH:53b1db9a-44af-4e14-a432-27c014e3321f_1|HGMD:CM013416|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:37303|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:PTPN11-A2|UniProtKB_(protein):Q06124#VAR_015606;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=49;RS=121918459 12 112450385 40498 G C . . AF_EXAC=0.00001;ALLELEID=48968;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112450385G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q06124#VAR_027185|ClinGen_RASopathy_Variant_Curation_Expert_Panel:9d27348b-e93e-42e4-ad51-7528c854b07d;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507511 12 112450389 44603 A G . . ALLELEID=53770;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112450389A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:37136;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397516801 12 112450424 40504 A G . . ALLELEID=48974;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112450424A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9a9c6639-bd78-4169-b494-17e19c0101cc;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507515 12 112450435 36708 C T . . AF_ESP=0.02814;AF_EXAC=0.00717;AF_TGP=0.02436;ALLELEID=45369;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|none_provided|not_provided;CLNHGVS=NC_000012.12:g.112450435C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:745257|ClinGen_RASopathy_Variant_Curation_Expert_Panel:cc78505d-9b7f-4e98-be44-54c0653cc0f0|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1318;GENEINFO=PTPN11:5781;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61736914 12 112453192 40511 T C . . AF_ESP=0.00015;AF_EXAC=0.00005;AF_TGP=0.00080;ALLELEID=48981;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:C2711754|MedGen:CN169374;CLNDN=Rasopathy|History_of_neurodevelopmental_disorder|not_specified;CLNHGVS=NC_000012.12:g.112453192T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9a983768-4bb6-4ea5-a081-ded31831d374;GENEINFO=PTPN11:5781;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146749153 12 112453254 44607 A G . . AF_EXAC=0.00004;ALLELEID=53774;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000012.12:g.112453254A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:31422|ClinGen_RASopathy_Variant_Curation_Expert_Panel:8586051d-c6a7-40c5-bec9-54228dc29a69;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=9;RS=397516805 12 112453279 40513 G C . . ALLELEID=48983;CLNDISDB=.|Human_Phenotype_Ontology:HP:0000248,Human_Phenotype_Ontology:HP:0002258,Human_Phenotype_Ontology:HP:0004479,Human_Phenotype_Ontology:HP:0008512,MONDO:MONDO:0018114,MedGen:C0221356,Orphanet:ORPHA35099|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,MedGen:C0557874|Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=PTPN11_Related_Disorders|Brachycephaly|Microcephaly|Ptosis|Global_developmental_delay|Pectus_excavatum|Hypertrophic_cardiomyopathy|Juvenile_myelomonocytic_leukemia|Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome_3|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|Inborn_genetic_diseases|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000012.12:g.112453279G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q06124#VAR_015613|Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:7_February_2017|ClinGen_RASopathy_Variant_Curation_Expert_Panel:d42e8a4a-ba52-4c29-8f18-11134760c93e|HGMD:CM021132|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:43779;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=41;RS=397507520 12 112453399 40516 G C . . AF_ESP=0.00923;AF_EXAC=0.00976;AF_TGP=0.00599;ALLELEID=48986;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN169374|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112453399G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:150107|Illumina_Laboratory_Services,Illumina:11599|ClinGen_RASopathy_Variant_Curation_Expert_Panel:e349cc49-74ea-4be5-b0ec-3257498743d6;GENEINFO=PTPN11:5781;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41304351 12 112454556 36709 C A . . AF_ESP=0.00115;AF_EXAC=0.00059;AF_TGP=0.00060;ALLELEID=45370;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN169374|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112454556C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:060519d6-25cd-463c-9fa2-709f2939aebc|Illumina_Laboratory_Services,Illumina:292324;GENEINFO=PTPN11:5781;MC=SO:0001627|intron_variant;ORIGIN=1;RS=184804143 12 112454596 178109 G T . . AF_ESP=0.00008;AF_EXAC=0.00049;ALLELEID=175395;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Rasopathy|LEOPARD_syndrome_1|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000012.12:g.112454596G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ff743f9f-7a04-4e11-8654-6e63c340e74f|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:198863|Illumina_Laboratory_Services,Illumina:1340899;GENEINFO=PTPN11:5781;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200920312 12 112455943 448922 C CG . . AF_ESP=0.00024;AF_EXAC=0.00007;ALLELEID=442536;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112455944dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:809e2362-8dff-4288-a90f-cef41c788bd2|Invitae:1068162;GENEINFO=PTPN11:5781;MC=SO:0001627|intron_variant;ORIGIN=1;RS=758889732 12 112472968 40520 C T . . ALLELEID=48990;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112472968C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:90bd1343-a396-445b-985c-d23c393118d4;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507525 12 112472969 575203 T A . . AF_EXAC=0.00001;ALLELEID=571258;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000012.12:g.112472969T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765642157 12 112472969 280939 T G . . ALLELEID=264670;CLNDISDB=MONDO:MONDO:0011035,MedGen:C2931482,OMIM:601321,Orphanet:ORPHA638|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Neurofibromatosis-Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112472969T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:85993;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=17;RS=765642157 12 112472981 40522 G A . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=48992;CLNDISDB=.|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=PTPN11-related_disorder|Juvenile_myelomonocytic_leukemia|Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000012.12:g.112472981G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_103|ClinGen_RASopathy_Variant_Curation_Expert_Panel:0478380b-41bf-443f-bb02-184b55a7aba8|Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:9_June2016;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=41;RS=376607329 12 112477619 40530 A C . . AF_ESP=0.00062;AF_EXAC=0.01538;AF_TGP=0.00998;ALLELEID=49000;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112477619A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:d075d2b2-41cf-44a5-be84-8bdd1d974908;GENEINFO=PTPN11:5781;MC=SO:0001627|intron_variant;ORIGIN=1;RS=187389813 12 112477719 13326 A G . . AF_EXAC=0.00001;ALLELEID=28365;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Thrombocytopenia|Abnormal_bleeding|Juvenile_myelomonocytic_leukemia|Metachondromatosis|Noonan_syndrome_1|Hereditary_cancer-predisposing_syndrome|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|Inborn_genetic_diseases|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000012.12:g.112477719A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q06124#VAR_015619|OMIM_Allelic_Variant:176876.0003|Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:24_February_2019|ClinGen_RASopathy_Variant_Curation_Expert_Panel:6525f07c-2ebf-4229-9447-62d126ad46cd|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:PTPN11-A5|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_435|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:63933|HGMD:CM013422;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=49;RS=28933386 12 112477722 40536 A G . . AF_ESP=0.00023;AF_EXAC=0.00041;ALLELEID=49006;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000012.12:g.112477722A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q06124#VAR_015620|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:991003|ClinGen_RASopathy_Variant_Curation_Expert_Panel:4cec7b98-aaab-4623-a50c-b195372c6afa|Illumina_Laboratory_Services,Illumina:692615;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201787206 12 112477874 307226 G A . . AF_EXAC=0.00040;AF_TGP=0.00080;ALLELEID=330590;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:C2711754;CLNDN=Metachondromatosis|Noonan_syndrome_1|Rasopathy|LEOPARD_syndrome_1|History_of_neurodevelopmental_disorder;CLNHGVS=NC_000012.12:g.112477874G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:819457|ClinGen_RASopathy_Variant_Curation_Expert_Panel:4b23453d-9e67-4633-aab5-49c2f6fe967e;GENEINFO=PTPN11:5781;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=576405446 12 112477951 181766 G A . . AF_EXAC=0.00022;AF_TGP=0.00060;ALLELEID=179454;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112477951G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:8d55f3e7-09d7-4c84-98a4-830352b7611a;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=535800148 12 112477975 40541 G A . . AF_EXAC=0.00047;AF_TGP=0.00040;ALLELEID=49011;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112477975G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:d67ff0bd-70c2-44c7-a7af-94d111f387e6;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507534 12 112482202 436446 A G . . AF_EXAC=0.00023;AF_TGP=0.00020;ALLELEID=429364;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN169374|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Rasopathy|LEOPARD_syndrome_1|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112482202A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:12ed454d-c461-49c9-bc0c-2cef4abf6af1|Illumina_Laboratory_Services,Illumina:454548;GENEINFO=PTPN11:5781;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=532529560 12 112486482 13341 C T . . ALLELEID=28380;CLNDISDB=MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0020526,MedGen:CN207426,Orphanet:ORPHA99887|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_1|Acute_megakaryoblastic_leukemia_in_down_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112486482C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:176876.0019|ClinGen_RASopathy_Variant_Curation_Expert_Panel:c27ba4df-7313-42a7-9172-705ba69caf5e;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121918467 12 112488466 13331 C T . . AF_EXAC=0.00001;ALLELEID=28370;CLNDISDB=.|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN517202;CLNDN=PTPN11-related_disorder|Hypertrophic_cardiomyopathy|Juvenile_myelomonocytic_leukemia|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|Inborn_genetic_diseases|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112488466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM021672|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:49884|ClinGen_RASopathy_Variant_Curation_Expert_Panel:e33078e1-353c-43ad-a6d9-93f2dab20e33|OMIM_Allelic_Variant:176876.0006;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918457 12 112489025 44598 T G . . AF_EXAC=0.00002;ALLELEID=53765;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Metachondromatosis|Noonan_syndrome_1|Rasopathy|LEOPARD_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000012.12:g.112489025T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:603107|ClinGen_RASopathy_Variant_Curation_Expert_Panel:95a9b0b8-ca1d-4603-93e0-5dfbb46c2c24;GENEINFO=PTPN11:5781;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143238917 12 112489086 40562 A G . . ALLELEID=49032;CLNDISDB=Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MeSH:D030342,MedGen:C0950123|MedGen:CN235283|MedGen:CN517202;CLNDN=Juvenile_myelomonocytic_leukemia|Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|Inborn_genetic_diseases|none_provided|not_provided;CLNHGVS=NC_000012.12:g.112489086A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM013423|ClinGen_RASopathy_Variant_Curation_Expert_Panel:e9f2d6d1-62c8-49f8-89ca-4b2438d14afb|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:121100;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397507547 12 112489105 13344 A C . . ALLELEID=28383;CLNDISDB=MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN517202;CLNDN=Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome_1|Noonan_syndrome_3|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|not_provided;CLNHGVS=NC_000012.12:g.112489105A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:45725|OMIM_Allelic_Variant:176876.0022|ClinGen_RASopathy_Variant_Curation_Expert_Panel:74aa9bfb-79b2-4d78-8440-29866a548c82;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=33;RS=121918470 12 112489106 40567 G C . . ALLELEID=49037;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000012.12:g.112489106G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM117756|ClinGen_RASopathy_Variant_Curation_Expert_Panel:c1682ae1-ce46-41b9-b916-5efef827298a;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507550 12 112502194 138843 G A . . AF_ESP=0.00008;AF_EXAC=0.00013;ALLELEID=142546;CLNDISDB=MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736;CLNDN=Metachondromatosis|Noonan_syndrome_1|Rasopathy|LEOPARD_syndrome_1|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000012.12:g.112502194G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:742052|ClinGen_RASopathy_Variant_Curation_Expert_Panel:44e8200c-0983-497e-bcb9-d1d61782e537;GENEINFO=PTPN11:5781;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374896287 12 112502202 40570 C T . . AF_ESP=0.00046;AF_EXAC=0.00049;AF_TGP=0.00020;ALLELEID=49040;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Juvenile_myelomonocytic_leukemia|Metachondromatosis|Noonan_syndrome_1|Noonan_syndrome|Rasopathy|LEOPARD_syndrome_1|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000012.12:g.112502202C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:24046|ClinGen_RASopathy_Variant_Curation_Expert_Panel:8b509a72-e8ae-4215-92db-567fba446b08|HGMD:CM090465;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=9;RS=148176616 12 112502222 44599 C T . . AF_EXAC=0.00003;ALLELEID=53766;CLNDISDB=Human_Phenotype_Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834|MONDO:MONDO:0007979,MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MONDO:MONDO:0100082,MedGen:C4551484,OMIM:151100|MedGen:CN169374|MedGen:CN517202;CLNDN=Juvenile_myelomonocytic_leukemia|Metachondromatosis|Noonan_syndrome_1|Rasopathy|LEOPARD_syndrome_1|not_specified|not_provided;CLNHGVS=NC_000012.12:g.112502222C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:1de1c18c-c026-4034-afda-2b4516c6cdae;GENEINFO=PTPN11:5781;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516797 12 120978486 14933 A C . . ALLELEID=29972;CLNDISDB=MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Maturity-onset_diabetes_of_the_young,_type_3|Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978486A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:142410.0007;GENEINFO=HNF1A:6927;MC=SO:0002153|genic_upstream_transcript_variant;ORIGIN=1 12 120978551 1327603 T C . . ALLELEID=1318216;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978551T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1 12 120978582 1327602 C A . . ALLELEID=1318215;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978582C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1 12 120978582 1327601 C T . . ALLELEID=1318214;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978582C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1 12 120978812 1327594 C T . . ALLELEID=1318207;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978812C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120978826 1033090 G A . . ALLELEID=1020995;CLNDISDB=MONDO:MONDO:0012919,MedGen:C2675866,OMIM:612520|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Diabetes_mellitus,_insulin-dependent,_20|Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978826G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=17;RS=1249563793 12 120978826 1327599 G C . . ALLELEID=1318212;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978826G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120978827 1327598 G A . . ALLELEID=1318211;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978827G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120978827 1327597 G C . . ALLELEID=1318210;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120978827G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120979087 1327593 C A . . ALLELEID=1318206;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120979087C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988871 14930 A G . . ALLELEID=29969;CLNDISDB=MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625|MedGen:CN517202;CLNDN=Maturity-onset_diabetes_of_the_young,_type_3|Monogenic_diabetes|not_provided;CLNHGVS=NC_000012.12:g.120988871A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:142410.0004;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137853237 12 120988873 994547 C G . . ALLELEID=982811;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625|MedGen:CN517202;CLNDN=Monogenic_diabetes|not_provided;CLNHGVS=NC_000012.12:g.120988873C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1876669134 12 120988874 1327615 T C . . ALLELEID=1318228;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988874T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988874 1327614 T G . . ALLELEID=1318227;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988874T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988888 1327618 A G . . ALLELEID=1318231;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988888A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988889 1327617 T A . . ALLELEID=1318230;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988889T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988891 1327619 C A . . ALLELEID=1318232;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988891C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988897 14943 C T . . ALLELEID=29982;CLNDISDB=MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625|MedGen:CN517202;CLNDN=Maturity-onset_diabetes_of_the_young,_type_3|Monogenic_diabetes|not_provided;CLNHGVS=NC_000012.12:g.120988897C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:142410.0016;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137853244 12 120988898 562373 G A . . AF_EXAC=0.00001;ALLELEID=553557;CLNDISDB=MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625|MedGen:CN517202;CLNDN=Maturity-onset_diabetes_of_the_young,_type_3|Monogenic_diabetes|not_provided;CLNHGVS=NC_000012.12:g.120988898G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:1c241a8b-e5cd-4a72-a5e4-95225233cb19;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753998395 12 120988898 447488 G T . . ALLELEID=441514;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625|MedGen:CN169374;CLNDN=Monogenic_diabetes|not_specified;CLNHGVS=NC_000012.12:g.120988898G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753998395 12 120988916 1327592 C G . . ALLELEID=1318205;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988916C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988918 1327622 G A . . ALLELEID=1318235;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988918G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988930 1327607 TC T . . ALLELEID=1318220;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988933del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=HNF1A:6927;MC=SO:0001589|frameshift_variant;ORIGIN=1 12 120988931 1327616 C A . . ALLELEID=1318229;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988931C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988931 1327620 C T . . ALLELEID=1318233;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988931C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988933 1327606 C T . . ALLELEID=1318219;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988933C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120988935 1327604 C G . . ALLELEID=1318217;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120988935C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994171 1327609 T C . . ALLELEID=1318222;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994171T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994171 1327608 T G . . ALLELEID=1318221;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994171T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994172 1327605 G A . . ALLELEID=1318218;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994172G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994175 1327610 T C . . ALLELEID=1318223;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994175T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994186 1327596 G T . . ALLELEID=1318209;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994186G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994187 1327595 T C . . ALLELEID=1318208;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994187T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994231 1327600 G A . . ALLELEID=1318213;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994231G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994248 1327591 C G . . ALLELEID=1318204;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994248C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994252 1327611 T A . . ALLELEID=1318224;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994252T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994252 1327612 T C . . ALLELEID=1318225;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994252T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 12 120994253 36831 T C . . ALLELEID=45492;CLNDISDB=MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Maturity-onset_diabetes_of_the_young,_type_3|Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120994253T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922605 12 120996261 586798 G A . . ALLELEID=577248;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625|MedGen:CN517202;CLNDN=Monogenic_diabetes|not_provided;CLNHGVS=NC_000012.12:g.120996261G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1565886545 12 120996261 617646 G C . . ALLELEID=609053;CLNDISDB=MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Maturity-onset_diabetes_of_the_young,_type_3|Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120996261G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1565886545 12 120996261 1327621 G T . . ALLELEID=1318234;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120996261G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 12 120999279 1327613 C A . . ALLELEID=1318226;CLNDISDB=MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:ORPHA183625;CLNDN=Monogenic_diabetes;CLNHGVS=NC_000012.12:g.120999279C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=HNF1A:6927;MC=SO:0001583|missense_variant;ORIGIN=1 13 20188905 447450 A C . . AF_EXAC=0.00001;ALLELEID=441576;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374;CLNDN=Deafness,_autosomal_recessive_1A|Nonsyndromic_hearing_loss_and_deafness|not_specified;CLNHGVS=NC_000013.11:g.20188905A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773846324 13 20188905 585322 A T . . ALLELEID=576370;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884;CLNDN=Nonsyndromic_hearing_loss_and_deafness;CLNHGVS=NC_000013.11:g.20188905A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Hearing_Loss_Variant_Curation_Expert_Panel:3727aeaa-7c6e-4712-b0f1-b1eea47c7b7f;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773846324 13 20188908 555720 G A . . ALLELEID=546920;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884;CLNDN=Deafness,_autosomal_recessive_1A|Nonsyndromic_hearing_loss_and_deafness;CLNHGVS=NC_000013.11:g.20188908G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555341782 13 20188929 585327 C T . . AF_EXAC=0.00001;ALLELEID=576371;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884;CLNDN=Nonsyndromic_hearing_loss_and_deafness;CLNHGVS=NC_000013.11:g.20188929C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Hearing_Loss_Variant_Curation_Expert_Panel:95f36c60-61b5-4f1a-ba52-8297f08592ec;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752812448 13 20188999 225375 T C . . AF_EXAC=0.00003;ALLELEID=227350;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884;CLNDN=Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Nonsyndromic_hearing_loss_and_deafness;CLNHGVS=NC_000013.11:g.20188999T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=532203068 13 20189011 44760 A G . . AF_EXAC=0.00015;AF_TGP=0.00020;ALLELEID=53927;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MedGen:C3887873|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Hearing_loss|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.20189011A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2536|UniProtKB_(protein):P29033#VAR_015461;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=9;RS=397516878 13 20189019 429984 T C . . ALLELEID=421956;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202;CLNDN=Nonsyndromic_hearing_loss_and_deafness|not_provided;CLNHGVS=NC_000013.11:g.20189019T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1131691709 13 20189066 590799 C G . . ALLELEID=581737;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884;CLNDN=Deafness,_autosomal_recessive_1A|Nonsyndromic_hearing_loss_and_deafness;CLNHGVS=NC_000013.11:g.20189066C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=5;RS=1302739538 13 20189094 449488 A G . . ALLELEID=445123;CLNDISDB=Human_Phenotype_Ontology:HP:0002092,Human_Phenotype_Ontology:HP:0006546,MONDO:MONDO:0015924,MedGen:C2973725,Orphanet:ORPHA182090,SNOMED_CT:11399002|Human_Phenotype_Ontology:HP:0002098,Human_Phenotype_Ontology:HP:0002880,MedGen:C0476273,SNOMED_CT:271825005|Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202;CLNDN=Pulmonary_arterial_hypertension|Respiratory_distress|Neonatal_respiratory_distress|Nonsyndromic_hearing_loss_and_deafness|not_provided;CLNHGVS=NC_000013.11:g.20189094A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1273330603 13 20189243 21385 A C . . AF_EXAC=0.00001;ALLELEID=34237;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Hystrix-like_ichthyosis_with_deafness|Nonsyndromic_hearing_loss_and_deafness|not_provided;CLNHGVS=NC_000013.11:g.20189243A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P29033#VAR_002145|Illumina_Laboratory_Services,Illumina:465044;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80338946 13 20189346 17014 AG A . . ALLELEID=32053;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:C2673761|MedGen:C3887873|MedGen:CN235283|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Hearing_impairment|Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Deafness,_autosomal_recessive_1b|Nonsyndromic_hearing_loss_and_deafness|Deafness,_digenic,_GJB2/GJB3|Hearing_loss|none_provided|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000013.11:g.20189349del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2685901|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2562|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1783264|OMIM_Allelic_Variant:121011.0014;GENEINFO=GJB2:2706;ORIGIN=5;RS=80338943 13 20189355 44731 A G . . AF_EXAC=0.00002;ALLELEID=53898;CLNDISDB=MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374;CLNDN=Nonsyndromic_hearing_loss_and_deafness|not_specified;CLNHGVS=NC_000013.11:g.20189355A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:10661;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111033361 13 20189414 17010 CA C . . AF_EXAC=0.00068;ALLELEID=32049;CLNDISDB=.|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED_CT:24559001|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED_CT:1271009|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540|MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645|MONDO:MONDO:0018781,MedGen:C3665333,OMIM:PS148210,Orphanet:ORPHA477,SNOMED_CT:239059004|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:C3887873|MedGen:CN235283|MedGen:CN239435|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=GJB2-Related_Disorders|Hearing_impairment|Mutilating_keratoderma|Keratitis-ichthyosis-deafness_syndrome,_autosomal_dominant|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Hystrix-like_ichthyosis_with_deafness|Deafness,_autosomal_recessive_1b|Keratitis_ichthyosis_and_deafness_syndrome|Nonsyndromic_hearing_loss_and_deafness|Hearing_loss|none_provided|Nonsyndromic_Hearing_Loss,_Dominant|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000013.11:g.20189415del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2199900|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1783336|Illumina_Laboratory_Services,Illumina:677782|OMIM_Allelic_Variant:121011.0010|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2566;GENEINFO=GJB2:2706;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80338942 13 20189472 449490 A G . . AF_ESP=0.00015;AF_EXAC=0.00005;ALLELEID=445124;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Deafness,_autosomal_recessive_1A|Nonsyndromic_hearing_loss_and_deafness|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000013.11:g.20189472A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141774369 13 20189473 17023 C T . . AF_EXAC=0.00659;AF_TGP=0.01538;ALLELEID=32062;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED_CT:24559001|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED_CT:1271009|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540|MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MeSH:C580334,MedGen:C3711374|MedGen:CN235283|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Hearing_impairment|Mutilating_keratoderma|Keratitis-ichthyosis-deafness_syndrome,_autosomal_dominant|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Deafness,_autosomal_recessive_1A|Deafness,_X-linked_2|Deafness,_autosomal_dominant_3a|Hystrix-like_ichthyosis_with_deafness|Deafness,_autosomal_recessive_1b|Nonsyndromic_hearing_loss_and_deafness|Nonsyndromic_Deafness|none_provided|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000013.11:g.20189473C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:152393|UniProtKB_(protein):P29033#VAR_002139|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2571|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1783242|OMIM_Allelic_Variant:121011.0023|HGMD:CM000016;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=21;RS=72474224 13 20189475 158604 A G . . AF_EXAC=0.00002;ALLELEID=169014;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374;CLNDN=Hearing_impairment|Nonsyndromic_hearing_loss_and_deafness|not_specified;CLNHGVS=NC_000013.11:g.20189475A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587783644 13 20189481 17000 A G . . AF_EXAC=0.00850;AF_TGP=0.00599;ALLELEID=32039;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED_CT:24559001|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED_CT:1271009|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540|MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MeSH:C580334,MedGen:C3711374|MeSH:D030342,MedGen:C0950123|MedGen:C3887873|MedGen:CN235283|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Hearing_impairment|Mutilating_keratoderma|Keratitis-ichthyosis-deafness_syndrome,_autosomal_dominant|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Hystrix-like_ichthyosis_with_deafness|Deafness,_autosomal_recessive_1b|Nonsyndromic_hearing_loss_and_deafness|Nonsyndromic_Deafness|Inborn_genetic_diseases|Hearing_loss|none_provided|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000013.11:g.20189481A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:121011.0001|HGMD:CM970679|UniProtKB_(protein):P29033#VAR_002138|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2572|Illumina_Laboratory_Services,Illumina:143545|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1783413|Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:Patient_3_b;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=25;RS=35887622 13 20189511 17002 C T . . AF_EXAC=0.00058;AF_TGP=0.00040;ALLELEID=32041;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED_CT:24559001|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED_CT:1271009|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540|MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290|MedGen:C3887873|MedGen:CN235283|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Hearing_impairment|Mutilating_keratoderma|Keratitis-ichthyosis-deafness_syndrome,_autosomal_dominant|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Deafness,_autosomal_recessive_1A|Deafness,_X-linked_2|Deafness,_autosomal_dominant_3a|Hystrix-like_ichthyosis_with_deafness|Deafness,_autosomal_recessive_1b|Nonsyndromic_hearing_loss_and_deafness|Deafness,_autosomal_recessive|Hearing_loss|none_provided|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000013.11:g.20189511C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:210657|OMIM_Allelic_Variant:121011.0003|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2576;GENEINFO=GJB2:2706;MC=SO:0001587|nonsense;ORIGIN=13;RS=104894396 13 20189546 17004 AC A . . ALLELEID=32043;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|Human_Phenotype_Ontology:HP:0008513,Human_Phenotype_Ontology:HP:0008536,MedGen:C0452136|Human_Phenotype_Ontology:HP:0008530,Human_Phenotype_Ontology:HP:0008539,Human_Phenotype_Ontology:HP:0008579,Human_Phenotype_Ontology:HP:0008585,Human_Phenotype_Ontology:HP:0008619,MedGen:C0452138|Human_Phenotype_Ontology:HP:0008534,Human_Phenotype_Ontology:HP:0008574,Human_Phenotype_Ontology:HP:0008625,MedGen:C4021533|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED_CT:24559001|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED_CT:1271009|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540|MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290|MeSH:D030342,MedGen:C0950123|MedGen:C0011053|MedGen:C2673760|MedGen:C3887873|MedGen:CN235283|MedGen:CN239439|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Hearing_impairment|Bilateral_conductive_hearing_impairment|Bilateral_sensorineural_hearing_impairment|Severe_sensorineural_hearing_impairment|Mutilating_keratoderma|Keratitis-ichthyosis-deafness_syndrome,_autosomal_dominant|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Hystrix-like_ichthyosis_with_deafness|Deafness,_autosomal_recessive_1b|Nonsyndromic_hearing_loss_and_deafness|Deafness,_autosomal_recessive|Inborn_genetic_diseases|Deafness|Deafness,_digenic,_GJB2/GJB6|Hearing_loss|none_provided|Nonsyndromic_Hearing_Loss,_Recessive|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000013.11:g.20189552del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=HGMD:CD972240|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_736|Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:Patients_3_a_and_8_b|Invitae:2218074|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2578|OMIM_Allelic_Variant:121011.0005|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1783431|Illumina_Laboratory_Services,Illumina:588326;GENEINFO=GJB2:2706;ORIGIN=29;RS=80338939 13 20189548 44740 C A . . AF_EXAC=0.00043;AF_TGP=0.00060;ALLELEID=53907;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:ORPHA494,SNOMED_CT:24559001|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:ORPHA2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:ORPHA2698,SNOMED_CT:1271009|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:ORPHA383|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540|MONDO:MONDO:0012977,MedGen:C2675235,OMIM:612645|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:C3887873|MedGen:CN235283|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Hearing_impairment|Mutilating_keratoderma|Keratitis-ichthyosis-deafness_syndrome,_autosomal_dominant|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome|Deafness,_autosomal_recessive_1A|Deafness,_X-linked_2|Deafness,_autosomal_dominant_3a|Hystrix-like_ichthyosis_with_deafness|Deafness,_autosomal_recessive_1b|Nonsyndromic_hearing_loss_and_deafness|Hearing_loss|none_provided|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000013.11:g.20189548C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM042706|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2580;GENEINFO=GJB2:2706;MC=SO:0001583|missense_variant;ORIGIN=1;RS=104894408 13 20189580 371781 A G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=358135;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000013.11:g.20189580A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GJB2:2706;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=371086981 13 20189605 375406 T G . . AF_ESP=0.00038;AF_EXAC=0.00068;AF_TGP=0.00040;ALLELEID=362175;CLNDISDB=MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_recessive_1A|Deafness,_autosomal_dominant_3a|Hystrix-like_ichthyosis_with_deafness|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000013.11:g.20189605T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1350492;GENEINFO=GJB2:2706;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=201895089 13 32314943 209597 A G . . AF_TGP=0.04014;ALLELEID=205807;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32314943A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675|ZAR1L:646799|LOC106721785:106721785;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7988901 13 32315226 209598 G A . . AF_TGP=0.15955;ALLELEID=205808;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32315226G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675|ZAR1L:646799|LOC106721785:106721785;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3092989 13 32315532 209599 C T . . AF_TGP=0.00579;ALLELEID=205809;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32315532C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:741453;GENEINFO=BRCA2:675|LOC106721785:106721785;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=55880202 13 32315545 264955 G A . . AF_TGP=0.00200;ALLELEID=259407;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32315545G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675|LOC106721785:106721785;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=567110692 13 32315645 264878 AAAG A . . ALLELEID=259408;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Fanconi_anemia|not_specified;CLNHGVS=NC_000013.11:g.32315648_32315650del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Laboratory_Services,Illumina:588454|Invitae:161049;GENEINFO=BRCA2:675|LOC106721785:106721785;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=545321666 13 32315655 209600 A G . . AF_TGP=0.14856;ALLELEID=205810;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32315655A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:12095;GENEINFO=BRCA2:675|LOC106721785:106721785;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=206118 13 32315831 209930 G A . . AF_TGP=0.74121;ALLELEID=205811;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32315831G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206119 13 32315859 264862 C T . . AF_TGP=0.00919;ALLELEID=259409;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32315859C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571572 13 32315889 209601 C T . . AF_TGP=0.22644;ALLELEID=205812;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32315889C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9562605 13 32316027 209602 G A . . AF_TGP=0.00719;ALLELEID=205813;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316027G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115797182 13 32316090 209603 G T . . AF_TGP=0.21645;ALLELEID=205814;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32316090G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9567552 13 32316435 125965 G A . . AF_ESP=0.20883;AF_EXAC=0.24652;AF_TGP=0.20927;ALLELEID=131503;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32316435G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14186|Breast_Cancer_Information_Core__(BRCA2):203&base_change%3DG_to_A|Illumina_Laboratory_Services,Illumina:12084;GENEINFO=BRCA2:675;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=1799943 13 32316450 125976 C T . . AF_ESP=0.00584;AF_EXAC=0.00163;AF_TGP=0.00439;ALLELEID=131514;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32316450C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:83963|Illumina_Laboratory_Services,Illumina:747084|Breast_Cancer_Information_Core__(BRCA2):218&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=76874770 13 32316463 51579 G A . . ALLELEID=66247;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32316463G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288976;GENEINFO=BRCA2:675;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=80358650 13 32316463 51985 GC G . . ALLELEID=66653;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316465del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507820 13 32316470 51063 G T . . ALLELEID=65731;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32316470G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507571 13 32316473 421342 TC T . . ALLELEID=408824;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32316475del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795072 13 32316475 51198 CAA C . . ALLELEID=65866;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32316477_32316478del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):245&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359298 13 32316477 51267 AAG A . . ALLELEID=65935;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32316478AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507623 13 32316484 51330 GC G . . ALLELEID=65998;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32316486del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:502675|Breast_Cancer_Information_Core__(BRCA2):254&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359343 13 32316487 184405 A G . . ALLELEID=183612;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32316487A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201444 13 32316490 51509 A AT . . ALLELEID=66177;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32316496dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912446|Breast_Cancer_Information_Core__(BRCA2):264&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359393 13 32316490 219687 A G . . ALLELEID=222271;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32316490A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622207 13 32316490 51508 AT A . . ALLELEID=66176;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316496del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):264&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359393 13 32316492 51528 TTTTTGAAA T . . ALLELEID=66196;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316497_32316504del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507687 13 32316497 125980 G GT . . ALLELEID=131518;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316497_32316498insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):265&base_change%3Dins_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288850;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359400 13 32316497 51527 G T . . ALLELEID=66195;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316497G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358622 13 32316507 266836 A AG . . ALLELEID=260985;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316508dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040552 13 32316508 266834 GAC ATCGATCGAT . . ALLELEID=260984;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316508_32316510delinsATCGATCGAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=483353081 13 32316508 51814 GAC G . . ALLELEID=66482;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32316509AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2881413|Breast_Cancer_Information_Core__(BRCA2):279&base_change%3Ddel_AC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359483 13 32316508 266857 GACACGCTGCA G . . ALLELEID=260986;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316512_32316521del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040574 13 32316510 51815 C CA . . ALLELEID=66483;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316511dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507772 13 32316513 51855 G A . . AF_EXAC=0.00004;AF_TGP=0.00040;ALLELEID=66523;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32316513G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358762 13 32316517 236884 C T . . ALLELEID=241632;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32316517C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853592 13 32316520 52081 CA C . . ALLELEID=66749;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316523del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):291&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359582 13 32316528 52161 G T . . ALLELEID=66829;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32316528G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):295+1&base_change%3DG_to_T;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=81002796 13 32316585 264919 A C . . AF_TGP=0.00459;ALLELEID=259410;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316585A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=538947930 13 32316609 52164 C G . . AF_TGP=0.00100;ALLELEID=66832;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32316609C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):295+82&base_change%3DC_to_G;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=189026060 13 32316853 209604 G C . . AF_TGP=0.00599;ALLELEID=205815;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32316853G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571575 13 32317168 209605 T C . . AF_TGP=0.07328;ALLELEID=205816;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32317168T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571576 13 32317246 264884 T A . . AF_TGP=0.00599;ALLELEID=259411;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32317246T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=191749285 13 32317314 209606 CAAGT C . . AF_TGP=0.25839;ALLELEID=205817;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32317315_32317318del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571577 13 32317569 209607 A G . . AF_TGP=0.15256;ALLELEID=205818;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32317569A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206120 13 32317629 209608 T C . . AF_TGP=0.00779;ALLELEID=205819;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32317629T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571578 13 32317661 209609 T C . . AF_TGP=0.26478;ALLELEID=205820;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32317661T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571579 13 32317747 209610 A AT . . ALLELEID=205821;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32317751dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145615358 13 32317793 209611 C T . . AF_TGP=0.00879;ALLELEID=205822;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32317793C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571580 13 32318080 209931 C T . . AF_TGP=0.97424;ALLELEID=205823;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32318080C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206121 13 32318103 209612 CAGT C . . AF_TGP=0.00659;ALLELEID=205824;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32318104_32318106del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571581 13 32318532 209613 C T . . AF_TGP=0.00958;ALLELEID=205825;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32318532C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142569349 13 32318557 209614 G T . . AF_TGP=0.07348;ALLELEID=205826;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32318557G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571582 13 32318598 209932 T C . . AF_TGP=0.63858;ALLELEID=205827;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32318598T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206122 13 32318623 209615 A C . . AF_TGP=0.26538;ALLELEID=205828;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32318623A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571583 13 32318683 209616 T C . . AF_TGP=0.07967;ALLELEID=205829;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32318683T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571584 13 32318738 209617 G A . . AF_TGP=0.01038;ALLELEID=205830;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32318738G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571585 13 32318748 209618 G A . . AF_TGP=0.00659;ALLELEID=205831;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32318748G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571586 13 32319070 52187 T A . . AF_ESP=0.00108;AF_EXAC=0.00238;AF_TGP=0.00120;ALLELEID=66855;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32319070T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA2_c.68-7T>A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:54900|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_231|Illumina_Laboratory_Services,Illumina:551205|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460035|Breast_Cancer_Information_Core__(BRCA2):296-7&base_change%3DT_to_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290308;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=81002830 13 32319077 52286 AT A . . ALLELEID=66954;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319080del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507903 13 32319077 125993 ATTTAGGACCAATAAGTCTTAATTGGT A . . ALLELEID=131531;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319080_32319105del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):299&base_change%3Ddel_26;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359637 13 32319080 52285 T A . . ALLELEID=66953;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32319080T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507902 13 32319080 266991 T G . . ALLELEID=260987;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319080T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507902 13 32319082 267008 G T . . ALLELEID=260988;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319082G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358961 13 32319087 415641 A G . . AF_EXAC=0.00003;ALLELEID=399878;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319087A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772146565 13 32319090 252407 AAG TAAGACT . . ALLELEID=246785;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319090_32319092delinsTAAGACT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=879255300 13 32319094 52659 CTT C . . ALLELEID=67327;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319095_32319096del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):314&base_change%3Ddel_TT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359722 13 32319099 184029 T C . . AF_EXAC=0.00001;ALLELEID=183617;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32319099T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=760655471 13 32319101 52808 G A . . ALLELEID=67476;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32319101G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291214;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508045 13 32319102 52829 G A . . ALLELEID=67497;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319102G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359214 13 32319106 52900 G T . . ALLELEID=67568;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319106G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508065 13 32319109 51041 G T . . ALLELEID=65709;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32319109G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288070|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841902;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358391 13 32319111 266602 A AC . . ALLELEID=260989;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319112dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040340 13 32319111 232243 A G . . AF_EXAC=0.00001;ALLELEID=234594;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319111A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762819719 13 32319111 548439 ACTTT A . . ALLELEID=538638;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319115_32319118del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555280340 13 32319111 266603 ACTTTCTT A . . ALLELEID=260990;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319113_32319119del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040341 13 32319112 126005 C CT . . ALLELEID=131543;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319115dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):334&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359262 13 32319117 266608 TTCAG T . . ALLELEID=260991;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319118_32319121del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040344 13 32319119 266610 C A . . ALLELEID=260992;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319119C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040346 13 32319119 266611 C G . . ALLELEID=260993;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319119C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040346 13 32319123 51074 AG A . . ALLELEID=65742;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319124del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507573 13 32319126 254472 TCCAC T . . ALLELEID=248906;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319129_32319132del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038047 13 32319131 422823 C CCTATAATT . . ALLELEID=408829;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32319134_32319141dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=483353112 13 32319132 184911 C G . . ALLELEID=183620;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319132C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201783 13 32319134 37734 A G . . AF_ESP=0.00246;AF_EXAC=0.00170;AF_TGP=0.00080;ALLELEID=46290;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32319134A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:149776|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462052|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:159567;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4987046 13 32319135 266621 T A . . ALLELEID=260994;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319135T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040353 13 32319135 51096 TA T . . ALLELEID=65764;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319137del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):356&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359275 13 32319135 266622 TAA T . . ALLELEID=260995;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319136_32319137del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040354 13 32319142 51104 G T . . ALLELEID=65772;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32319142G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507581 13 32319151 220237 GA G . . ALLELEID=222274;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319153del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=864622434 13 32319154 51129 G T . . ALLELEID=65797;CLNDISDB=Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MedGen:C0040588,OMIM:189960,Orphanet:ORPHA1199|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Tracheoesophageal_fistula|Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32319154G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288220|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2396394;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358435 13 32319159 51138 TG T . . ALLELEID=65806;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319160del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):379&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359287 13 32319165 224438 TA T . . ALLELEID=226154;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319170del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853297 13 32319165 236276 TAA T . . ALLELEID=237817;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319169_32319170del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:9175439;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853297 13 32319170 419713 AC A . . ALLELEID=408830;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32319171del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794059 13 32319174 230903 C T . . AF_EXAC=0.00001;ALLELEID=234595;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319174C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779367922 13 32319176 37751 A C . . AF_EXAC=0.00002;ALLELEID=46307;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319176A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2684802;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358454 13 32319178 51177 T TA . . ALLELEID=65845;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319179dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):398&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359299 13 32319179 440434 AC A . . ALLELEID=434055;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319180del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555280367 13 32319180 232879 C A . . ALLELEID=234596;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319180C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=201523522 13 32319180 51179 C G . . ALLELEID=65847;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319180C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=201523522 13 32319180 224452 C T . . AF_TGP=0.00020;ALLELEID=226155;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319180C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201523522 13 32319181 51180 G T . . ALLELEID=65848;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32319181G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507603 13 32319183 233584 AC A . . ALLELEID=234597;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319185del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660504 13 32319189 427407 C T . . ALLELEID=416231;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319189C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852627;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692130 13 32319192 184579 A G . . AF_EXAC=0.00001;ALLELEID=183621;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319192A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853602;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776638534 13 32319192 91761 AT A . . ALLELEID=97238;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319195del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122733 13 32319204 427413 A G . . ALLELEID=416232;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319204A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692135 13 32319205 51233 C T . . ALLELEID=65901;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319205C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846249;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507617 13 32319207 51234 A G . . AF_ESP=0.00023;AF_EXAC=0.00107;AF_TGP=0.00200;ALLELEID=65902;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319207A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):426&base_change%3DA_to_G|Illumina_Laboratory_Services,Illumina:705633;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897700 13 32319209 266672 G GGA . . ALLELEID=260996;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319210_32319211dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040400 13 32319210 254473 G GA . . ALLELEID=248907;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319213dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359320 13 32319210 51239 GA G . . ALLELEID=65907;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32319213del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2892497|Breast_Cancer_Information_Core__(BRCA2):432&base_change%3Ddel_A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2648029;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359320 13 32319210 409464 GAAACCATCTTATAATC G . . ALLELEID=399287;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319212_32319227del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064792960 13 32319219 427525 T C . . AF_EXAC=0.00001;ALLELEID=416233;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319219T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751417001 13 32319220 266679 T TA . . ALLELEID=260997;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319221dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040406 13 32319224 51252 A TT . . ALLELEID=65920;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319224delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507619 13 32319226 91770 C T . . ALLELEID=97247;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319226C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122741 13 32319229 418075 CT C . . ALLELEID=408832;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32319230del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793061 13 32319231 384193 G A . . ALLELEID=373654;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319231G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224303 13 32319231 215601 G C . . ALLELEID=213023;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319231G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224303 13 32319232 51258 G C . . AF_ESP=0.00031;AF_EXAC=0.00017;AF_TGP=0.00020;ALLELEID=65926;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32319232G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:88045;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897701 13 32319232 548413 G GA . . ALLELEID=538639;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319232_32319233insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555280388 13 32319233 266687 C CA . . ALLELEID=260998;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319233_32319234insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040414 13 32319236 51265 C G . . ALLELEID=65933;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319236C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358498 13 32319240 51269 T G . . AF_ESP=0.00231;AF_EXAC=0.00068;AF_TGP=0.00300;ALLELEID=65937;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319240T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:122738;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=114446594 13 32319252 51293 C CA . . ALLELEID=65961;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32319255dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507630 13 32319252 427476 C T . . ALLELEID=416234;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319252C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692144 13 32319252 433746 CA C . . ALLELEID=427341;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319255del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507630 13 32319253 51288 A T . . ALLELEID=65956;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319253A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288478;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507628 13 32319254 266702 AAG A . . ALLELEID=261000;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319255AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040429 13 32319256 266701 G T . . ALLELEID=260999;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319256G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040428 13 32319258 266705 GC G . . ALLELEID=261001;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319259del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040432 13 32319259 51298 C T . . ALLELEID=65966;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319259C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2533794|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288490;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=80358515 13 32319268 51317 ACT A . . ALLELEID=65985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319269CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1071153|Breast_Cancer_Information_Core__(BRCA2):490&base_change%3Ddel_CT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174825 13 32319271 51321 CT C . . ALLELEID=65989;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319272del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):491&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359339 13 32319273 51324 GC G . . ALLELEID=65992;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319275del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):494&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359341 13 32319274 421301 CCG C . . ALLELEID=408833;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32319276_32319277del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795043 13 32319276 135794 G A . . ALLELEID=139506;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319276G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:575928|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2833228;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780648 13 32319276 427539 G T . . ALLELEID=416235;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319276G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780648 13 32319279 266715 GTA G . . ALLELEID=261002;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319280_32319281del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040441 13 32319282 51334 C A . . ALLELEID=66002;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319282C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=145988146 13 32319282 51335 C G . . ALLELEID=66003;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319282C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=145988146 13 32319282 185098 C T . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=183622;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319282C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145988146 13 32319283 51339 C CA . . ALLELEID=66007;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319285dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912483|Breast_Cancer_Information_Core__(BRCA2):504&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359345 13 32319283 37799 C T . . ALLELEID=46355;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319283C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288550;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=80358529 13 32319284 548332 A ACCAT . . ALLELEID=538640;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319284_32319285insCCAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555280427 13 32319285 427505 A G . . AF_EXAC=0.00001;ALLELEID=416236;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319285A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771101539 13 32319286 810853 TCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGTAGACTGGGGAGAACTACAAACTAGGAATTTAGGCAAACCTGTGTTAAAATCTTAGCTCATTCATTAATTGTGTCATGCTGGGCAAATCAGTCTCTCTGGCCTCTTTTTCCTCACTCGAAAAATGGAGACGATGAAAATAATGTCTCATAGGTTTGGATTAAATTAAATAATGTAGGTACTTAGTAAATGTTCTCTTTCATCCCTCCTTTGATAAATTTGCCAACTGAGATTTGCTGAATTACGTCTTTCTTATGCCAAAAAAACCTAGGACTTGTTTTGATGTTAATTAAACTAAACTATATTTCTGCAAGCTATCACAGAGGACAGAGATTATTTTACCGATATACTATAAGTATCATGATTTGGAAGGAGTTTCCCTGGCGTAGGTGCCGCATGTTTCTAAGCAATTATGTAATAAGATTATATATTCAGTCATTCAAATAATTATTACCTACTTGACATAAGTAATGAACTTTCCCTTTTCTTCAGAGTGTTAATCTCTAGTAAGGGGAATAAAGAGTACACAGATAAAGTATAGTGTAAGGTTGAATGTAGTATGTGCTAAGAGAAAAATATAAAAAAGTATAATGAGAGTTGAGAAGAAAGAGCAAATAGTATTGGGCAAAGTTAGGCAATTATTCCTTTGAGCTAAACCTTGAAGGATAGGTGAGAGATTAAGAAATTTGAAGATGTGGTAGAGTGATAATGTTCTAGGCAGAGGGAACAACATGAGGAAGAATATGTAGTGTGTTCAGGAAATAGCAAGTAATTCAGGTTGGCTTTGGTTGTTTTGTGTCTGAAAGGGACCAATAGACAAGGCAAAAAGGCAGACTAAAGGCAGGCATTGAATGCCAAGCTAAAGAAATTGAATTTGTTTGGTTGGTTGGTGAGCAGAGAAATCACATGCAAATTTCATCATGCTACTTATTGTGTCAAACCTTAGATCACCTCCCTTTGTCCTTATAGCAAAATCTAAACTTGATATGGCTTTCAAGTTCCTTTGTGATCAGGCCCCTGATTTACACTCTTGGCTCAGCTTGCCATATTCATCCTCTCACCTATCTTCATTTGCCATTCATTCCTACTGAATTTCTTTTCGTTACCAAAACCACAATGCTCTCTGGCTCTTTATTAAACATATTGTTACCTCTACCCACAACCTACTTTTTCCCTACTTTTTGTCTAGCTAATTTGCGTGCTCGTCTTTCAGATCTTGGCTTATTTCTGCTTCTGAGAAATACTTCCTGTCTGCCCTCGTTGAGCTTCTAGTGAAGGAGACATACATAAGCAATTATAGTGTGATACATGCTTTGAAAGAAATTCATGGCTATAGGGAGTGCATATACAAAGGGAATATAGGTAATGGGCAAATATTTACATGTATGTTATTGGATACCAAATGGTATACATAGGATTCAGTAAATATTTGTAGAGTGAGTATTAGTATTATTTGCTTTAGAAAGCCTAATGATCAAACAGCAGTCTTTGGAGATAACGTTTTTCAAAATGTCATGTCTGTGCCATTAGAATCTTCTAGACTGCTCATTGAAAGGACAGATTCCAGGCCCCACTCTGAATCTCTTAATTTATAATTTTTGGAAATGATGCCCATGAGTCTACATTTTAAACTACCTGAATGATCCCTATAGAAAGAGAAAACTGGAGGTAGGAAGATCAGTTAGGGGATGTGTAATGGTCTAGGTGATAGAGACAAGTGCCTGAATTACAGTAATAACAGTGAAAGTAAATATGGAACATAAAACTATAGGACCTTGCAGTAGTCTAGATATGGAGGATTCAAAAAAAGGAACAAATGACAGGGCAAAGCATATGCAGAACACAGTAGTAACAGTCATAGAAATGGATAAGGGAGTCATCCATTCTGCAAATACTTAGTGCTTACTTGTGTCTGGCAACCTGCTCGGCATTAAGGATACAAATATGAATAAGATGTCCTTTGACCTCTAAGTACTCAGTCTCGTAAGCACGTCTTGTAAGCACATCTTGGTTGCTTCCATAAAAATAAATACACTAGTGTGATATGTTATAAGAGCATGTACCAAGTGCATGAAAAGTGAGCAGCCATCTCTGGTTGGTCAGAAAAAGCTCCATAAAGCAGTTTTTGCTGAATCTTGAAAGATATACCTAAGGTCAAATGGTTAATTCTTTAATCATAACCTGCTAGAATTGATCTATAACCAAGGAAGGATAGTAAGGAATTAATAAGGCCACTCTCAACTCACTGCAAAGGAGTTAACTTTTTGAAGGCTGTAATACATAAATCTGCTGACTAGTCTCTTGAGACCTTTTGCTTTTACGTTTACTTTAGATTCAGTATTGAAAAGTAAGAGTAATGGACTTAAGCTGTGTTTTTCAACCTGTTTTGTTCAGTTCTAACATGTAATATTTTTTAAAAAATTATTCCTAAAGTTCTATGAGGAATTGTGCTGTTTCTGCCTCTCAGCAGTCCTTCCTTTTGCATTAAATCATAGGCATTTCTGTTACCATTCTTCAGCTTATTAATGAGATCCTCAGGTTATTTGGGAAATGTTTATTTGGTAATTAACTCTTTTTCACCTAGTTCATTTTTTTAACTTTTTTTTTTAAATAGCCGAGTTTCTTTTCATTGCTGAACTAAAATGGATGTGTTATTATTAGCTGAACTCCTTAGTTTACTTTAGAGTTCACCCTTTGTATGGTTCTATGGATTTTGACAAATTGTATAATGTCGTATATCTGCCATTATGGCATTATACAGAATAATTTTGCTGCCCTAAAAATCTCCCGAGTTCCACCTGCTCACCCATCCCTCCTCCTGAGCCCCTGGCAGCCACTGATCTTTTTACTGTCTGTATAGTTTTGCCTTTTCCAGAATGTCATGTAGTTGGAATCATACAGAATATAGCATTTTCAGACTGGCTTCTTTCACTTAGCAATATGCCGAGACCAGCTCGATTGTAGAGACCCTAACCCAGCGGCACTAGAGGAATTAAAGGCACACAGAAATATAGCGGTGTGGAGTGGGAAATCAGGGGTCTCACAGCCTTTTGACAGCAAGCCAGTGATAAGCATTGTTTCTATAGATTATAGATTAACTGAAAGTATTCCTTAGGGGAAATAAAGGGCTGGGCCGAAGTAAAGGGATGGGTCTGGCTAGTTATCTGCAGCAGGAGAATGTCCTTAAGGCACAGGTCGCTCATGATAGTTTGTGGTTTAAGAACGCCTTTAAGCGGTTTTCTGCCCCGGGTGGGCCAGGTGTTCCTTGCCCTCATTCCGGTAAACCCACAAGCTTCCAGCGTGGGTGTCATGGCCATCACGAACATGTCACAGTGCTGCAGAGATTTTGTTTATGGCCAGTTTTGGGGCCAGTTCCCAACAGCAATATGTGTTTAAGGTTCTTCCATGTCTTTTAATGATTTCATGCTGAATAATATTCCATCGTATTGATGTACCACAGCTTGTTTATCCATTCATCTATTGAAGGACATCTTGATTGCTTCCAAATTTTGGCAATTATGAATAAAGCTGGTATAAATATTCACATACAGGTTTGTGTGTGAATATATTTTCAACTCATTTTGGTTCACACCAAAGAGCACGATTGTGGGATCATATAGTAAGAGTATGTTTAGTTTTATGAGAAACTACAAGCTTTCTTCCAAAGTAGCTGTTGCATTTTGTATTCCCACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCATGCCCGGCCTGTTTTATTTTTTAAAGTCAATTTTCTTTCAAGAATTAGCTACTTTTTAGTATCTTTAATTAAAAATCTCATTAGAGAAGGAGGTTGGATATTTTGTTGAAGTGGGGTTTTTAAGTTACACATCCATTTGCTTTATTAGTGATTATGTCTAGTCCATGTTAACTTGAAAAATGAGACTATAATGAGACATTTTATTTAGGCTGCTACAAACAGTTTTAAATTTGGTCTTCACTTTATTTTAGTAACATTGATAGAGCTTATTTTTCCCAAAAGCTAAGTTAGAGATTATAGGACCAACCGAAGCAACTATTTTCTAAGAGTAATAATAAGTGACTCAGGTGCCAAATTTGTAGTTACCATCAACTATTGGAACCATATGAGTACTTAATGCCCTGGAGAGTCAAATATAATCTACTCTAATACAGAAAATAGAAATATTGAAAAACTGTAAATTGGATTTCATATTGTTAAAGCCACCTATAGCTTTAGAAACTCTGAACATTATTTTCTTAGAAAATGGATGTGTTCAATAAGAATAGAAATTATGTATTACTGTCTGCAACTCACTTTGTCTAATTATATCCAATTTATTCATCCAGTCAATATTTCAGGAGTGACTAATATACCAGACATTTTTGTAGTTGCTAGGGATACAGTGACAAATAAGACAAAATCTCTACCTCAGATTGCTCACAGCCTAGTAGGGGGAAAAAGAACAGTGTATGATCAAACTCTTCAGGGAACACATAGGGGGGCAAACACTTAATCTTACCTTAGGGATCACTACAGTTTTCTGGAGGAGGTAGTTTCTAAATGGAAGCCTGAAAGAGTTGTTCCAGGTCAAGAAAAGCAAAGAAGGGGAAACAGCTTGTACAAAGTCCTAGAGGTTAAAGAAAAC CCAT . . ALLELEID=799100;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319286_32324350delinsCCAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1 13 32319297 427410 A G . . ALLELEID=416237;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319297A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692133 13 32319298 51368 G T . . ALLELEID=66036;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319298G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507646 13 32319302 427238 T G . . ALLELEID=416223;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319302T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Genologica_Medica:GNL0030;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1085308035 13 32319307 51382 A T . . ALLELEID=66050;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319307A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358546 13 32319312 51392 C CA . . ALLELEID=66060;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319315dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507654 13 32319312 427471 C T . . ALLELEID=416238;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319312C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=397507301 13 32319323 51406 T G . . ALLELEID=66074;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32319323T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462230;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358561 13 32319326 185890 G T . . ALLELEID=183624;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32319326G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397507303 13 32319327 51407 T C . . ALLELEID=66075;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32319327T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):544+2&base_change%3DT_to_C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844708;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=81002805 13 32319327 51408 TA T . . ALLELEID=66076;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32319329del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397507656 13 32319330 51409 G A . . ALLELEID=66077;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32319330G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):544+5&base_change%3DG_to_A;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=81002840 13 32319330 51410 G C . . ALLELEID=66078;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32319330G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843729;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=81002840 13 32319433 188421 A G . . AF_TGP=0.00899;ALLELEID=186437;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32319433A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115376548 13 32319587 209619 G A . . AF_TGP=0.00719;ALLELEID=205832;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32319587G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117573552 13 32319631 264911 TTAAAC T . . ALLELEID=259412;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319634AACTA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=367590748 13 32319654 209933 A G . . AF_TGP=0.54433;ALLELEID=205833;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32319654A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534174 13 32319686 209620 A G . . AF_TGP=0.00619;ALLELEID=205834;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319686A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74044997 13 32319771 209621 A G . . AF_TGP=0.00659;ALLELEID=205835;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32319771A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74044998 13 32320185 209622 G A . . AF_TGP=0.00300;ALLELEID=205836;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32320185G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571589 13 32320188 264892 A C . . AF_TGP=0.00260;ALLELEID=259413;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32320188A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=555027263 13 32320347 209623 G A . . AF_TGP=0.04912;ALLELEID=205837;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32320347G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571590 13 32320601 209624 G A . . AF_TGP=0.07328;ALLELEID=205838;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32320601G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571591 13 32320668 209625 A T . . AF_TGP=0.00639;ALLELEID=205839;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32320668A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=141454495 13 32320728 209626 T C . . AF_TGP=0.01957;ALLELEID=205840;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32320728T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571592 13 32320807 209627 G A . . AF_TGP=0.00599;ALLELEID=205841;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32320807G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=191199339 13 32320840 209628 C T . . AF_TGP=0.01577;ALLELEID=205842;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32320840C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7981512 13 32321240 209934 G C . . AF_TGP=0.97424;ALLELEID=205843;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32321240G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206123 13 32321244 209629 T C . . AF_TGP=0.00300;ALLELEID=205844;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32321244T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571593 13 32321334 264885 T A . . AF_TGP=0.00978;ALLELEID=259414;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32321334T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=188221073 13 32321537 209630 C T . . AF_TGP=0.07328;ALLELEID=205845;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32321537C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571594 13 32321612 264905 G C . . AF_TGP=0.00559;ALLELEID=259415;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32321612G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571595 13 32321936 209631 T C . . AF_TGP=0.00619;ALLELEID=205846;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32321936T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=185295915 13 32322152 209632 C T . . AF_TGP=0.00659;ALLELEID=205847;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32322152C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571596 13 32322539 209633 G A . . AF_TGP=0.07408;ALLELEID=205848;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32322539G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571597 13 32322585 209634 C T . . AF_TGP=0.07388;ALLELEID=205849;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32322585C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571598 13 32322709 209635 G A . . AF_TGP=0.10723;ALLELEID=205850;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32322709G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206070 13 32323006 209636 A G . . AF_TGP=0.00559;ALLELEID=205851;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32323006A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571601 13 32323151 264973 ATT A . . ALLELEID=259416;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32323168_32323169del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200414858 13 32323201 209637 G A . . AF_TGP=0.01997;ALLELEID=205852;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32323201G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55953893 13 32323301 264866 C T . . AF_TGP=0.00300;ALLELEID=259417;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32323301C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=563809655 13 32323396 264940 G A . . AF_TGP=0.00539;ALLELEID=259418;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32323396G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571603 13 32323405 209638 G A . . AF_TGP=0.00419;ALLELEID=205853;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32323405G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=180863416 13 32323861 264870 A T . . AF_TGP=0.00200;ALLELEID=259419;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32323861A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=575762451 13 32324101 209639 G A . . AF_TGP=0.07368;ALLELEID=205854;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32324101G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571605 13 32324497 209640 G A . . AF_TGP=0.00699;ALLELEID=205855;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32324497G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115317108 13 32324693 209641 A G . . AF_TGP=0.00919;ALLELEID=205856;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32324693A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571606 13 32324727 264985 A G . . AF_TGP=0.00839;ALLELEID=259420;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32324727A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571607 13 32325081 51428 A C . . AF_ESP=0.00046;AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=66096;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32325081A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358567 13 32325083 184303 T C . . AF_EXAC=0.00001;ALLELEID=183625;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32325083T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840950;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772010158 13 32325092 225733 T C . . ALLELEID=227520;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32325092T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=869320790 13 32325098 186582 A G . . ALLELEID=183626;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32325098A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203060 13 32325099 236850 CAT C . . ALLELEID=241634;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325101_32325102del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853568 13 32325100 441336 A AT . . ALLELEID=434944;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32325101dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:6130603;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555280845 13 32325106 419801 GTC G . . ALLELEID=408835;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32325108_32325109del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794115 13 32325119 51499 GA G . . ALLELEID=66167;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32325123del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3796391;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507680 13 32325125 51510 TA T . . ALLELEID=66178;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325129del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2407103;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507681 13 32325126 266764 AAAATG A . . ALLELEID=261003;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325127_32325131del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040488 13 32325127 266766 AAATGG A . . ALLELEID=261004;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325129_32325133del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040490 13 32325135 252437 C CA . . ALLELEID=246833;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32325137dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255321 13 32325137 184648 A G . . ALLELEID=183627;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32325137A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201593 13 32325140 186118 A G . . ALLELEID=183629;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32325140A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202707 13 32325147 254474 GT G . . ALLELEID=248908;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325150del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507318 13 32325152 427416 C T . . ALLELEID=416239;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325152C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692136 13 32325155 37869 T A . . ALLELEID=46425;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32325155T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507320 13 32325158 233290 A G . . ALLELEID=234606;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32325158A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660310 13 32325163 37876 TA T . . ALLELEID=46432;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32325166del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:773066|Breast_Cancer_Information_Core__(BRCA2):635&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359425 13 32325167 230932 TTCTTG T . . ALLELEID=234607;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32325172_32325176del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876658850 13 32325168 51598 TC T . . ALLELEID=66266;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325169del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):638&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359427 13 32325177 254475 AG A . . ALLELEID=248909;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325178del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038050 13 32325251 126095 A C . . AF_TGP=0.07428;ALLELEID=131633;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32325251A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):653+67&base_change%3DA_to_C;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571610 13 32325307 209642 C T . . AF_TGP=0.00659;ALLELEID=205857;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325307C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571611 13 32325331 209643 G T . . AF_TGP=0.02216;ALLELEID=205858;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32325331G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942423 13 32325418 264942 G A . . AF_TGP=0.00359;ALLELEID=259421;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325418G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571612 13 32325430 209644 G C . . AF_TGP=0.26318;ALLELEID=205859;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32325430G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571613 13 32325460 209645 AAGTC A . . ALLELEID=205860;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325461AGTC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=202006492 13 32325469 264915 C T . . AF_TGP=0.00599;ALLELEID=259422;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325469C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114789602 13 32325641 264874 C T . . AF_TGP=0.01877;ALLELEID=259423;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325641C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571614 13 32325687 264951 C T . . AF_TGP=0.00619;ALLELEID=259424;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325687C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571616 13 32325696 264980 A G . . AF_TGP=0.00619;ALLELEID=259425;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325696A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571617 13 32325701 209646 C T . . AF_TGP=0.07428;ALLELEID=205861;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325701C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571618 13 32325710 209647 T G . . AF_TGP=0.00040;ALLELEID=205862;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325710T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186248762 13 32325741 209935 C T . . AF_TGP=0.97384;ALLELEID=205863;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325741C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206071 13 32325750 209648 T C . . AF_TGP=0.00719;ALLELEID=205864;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325750T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571619 13 32325762 209649 G A . . AF_TGP=0.00879;ALLELEID=205865;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325762G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571620 13 32325765 209650 T C . . AF_TGP=0.00699;ALLELEID=205866;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325765T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571621 13 32325840 264871 T A . . AF_TGP=0.00359;ALLELEID=259426;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32325840T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=542917942 13 32325869 209651 C T . . AF_TGP=0.00240;ALLELEID=205867;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32325869C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=187438860 13 32326012 126098 T C . . AF_TGP=0.07428;ALLELEID=131636;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32326012T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):654-89&base_change%3DT_to_C;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3783265 13 32326101 266800 T TC . . ALLELEID=261005;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326103dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040519 13 32326103 141697 CT C . . ALLELEID=151411;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326104del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781945 13 32326106 266804 TTGTTC T . . ALLELEID=261006;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326108_32326112del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040523 13 32326111 231028 C T . . ALLELEID=234608;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32326111C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658912 13 32326112 51639 TA T . . ALLELEID=66307;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326113del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507716 13 32326113 427541 A G . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416240;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32326113A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200942633 13 32326114 51641 C T . . ALLELEID=66309;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326114C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507717 13 32326114 266811 CA C . . ALLELEID=261007;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326116del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040529 13 32326115 51644 A G . . AF_EXAC=0.00025;ALLELEID=66312;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0346647|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Cancer_of_the_pancreas|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32326115A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2470384|Illumina_Laboratory_Services,Illumina:270419|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459748|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14187;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358674 13 32326116 51645 A G . . AF_EXAC=0.00002;ALLELEID=66313;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32326116A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358676 13 32326124 231715 A ATG . . ALLELEID=234609;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326126_32326127dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659317 13 32326134 184705 A C . . ALLELEID=183632;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32326134A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201631 13 32326135 51684 CAA C . . ALLELEID=66352;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32326137_32326138del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):690&base_change%3Ddel_AA|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18596_605|Invitae:2287995;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359459 13 32326137 266824 AAG A . . ALLELEID=261008;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326139GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040542 13 32326138 51688 AGAGAT A . . ALLELEID=66356;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32326139_32326143del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507735 13 32326140 548347 A AT . . ALLELEID=538641;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326140_32326141insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555280954 13 32326142 548417 A AT . . ALLELEID=538642;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326143dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5892195;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555280955 13 32326143 266827 T TA . . ALLELEID=261011;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32326145dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040544 13 32326143 266826 TA T . . ALLELEID=261010;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326145del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040544 13 32326143 51698 TAA T . . ALLELEID=66366;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326144_32326145del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507739 13 32326143 51701 TAAGTC T . . ALLELEID=66369;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326145_32326149del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2887508|Breast_Cancer_Information_Core__(BRCA2):698&base_change%3Ddel_AGTCA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359463 13 32326144 266825 A AT . . ALLELEID=261009;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326144_32326145insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040543 13 32326145 409440 AG A . . ALLELEID=399302;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326146del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502395 13 32326146 266828 G GA . . ALLELEID=261012;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326146_32326147insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040546 13 32326148 266829 C A . . ALLELEID=261013;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326148C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358701 13 32326151 51708 G A . . AF_EXAC=0.00001;ALLELEID=66376;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326151G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):703+1&base_change%3DG_to_A;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=81002797 13 32326151 51709 G T . . ALLELEID=66377;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326151G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):703+1&base_change%3DG_to_T;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=81002797 13 32326240 37923 A G . . ALLELEID=46479;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32326240A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):704-2&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002853 13 32326249 254476 TG T . . ALLELEID=248910;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia;CLNHGVS=NC_000013.11:g.32326252del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1127759;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587780653 13 32326253 548342 A AG . . ALLELEID=538643;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326254dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555280989 13 32326253 51733 AGT A . . ALLELEID=66401;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32326254_32326255del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507747 13 32326255 126124 T TG . . ALLELEID=131662;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326255_32326256insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):717&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=120074205 13 32326257 51740 T A . . ALLELEID=66408;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326257T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358717 13 32326258 431287 GT G . . ALLELEID=424722;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326261del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401890 13 32326267 427437 A C . . AF_EXAC=0.00002;ALLELEID=416241;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326267A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750805758 13 32326267 236875 A G . . ALLELEID=241636;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326267A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750805758 13 32326268 51757 C A . . AF_EXAC=0.00001;ALLELEID=66425;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32326268C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358726 13 32326269 266846 CA C . . ALLELEID=261014;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326272del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040563 13 32326277 91834 G GT . . ALLELEID=97311;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326278dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122793 13 32326281 548405 A AC . . ALLELEID=538645;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326281_32326282insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281000 13 32326303 188424 A T . . AF_ESP=0.00754;AF_EXAC=0.00237;AF_TGP=0.00899;ALLELEID=186440;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32326303A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:15406;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571622 13 32326480 51799 C T . . AF_ESP=0.00738;AF_EXAC=0.00219;AF_TGP=0.00819;ALLELEID=66467;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided;CLNHGVS=NC_000013.11:g.32326480C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:44256|Breast_Cancer_Information_Core__(BRCA2):745-19&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571623 13 32326497 51801 A G . . ALLELEID=66469;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326497A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841897|Breast_Cancer_Information_Core__(BRCA2):745-2&base_change%3DA_to_G|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289432;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002858 13 32326497 37949 AG A . . ALLELEID=46505;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326500del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:948185|Breast_Cancer_Information_Core__(BRCA2):746&base_change%3Ddel_G;GENEINFO=BRCA2:675;ORIGIN=1;RS=80359492 13 32326503 409558 GT G . . ALLELEID=399646;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326504del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:898127;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502465 13 32326505 254477 C T . . AF_EXAC=0.00001;ALLELEID=248911;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326505C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=750385844 13 32326516 182277 A G . . AF_EXAC=0.00002;ALLELEID=180555;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32326516A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851186;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897703 13 32326517 51851 C CAT . . ALLELEID=66519;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326518AT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4106219|Breast_Cancer_Information_Core__(BRCA2):767&base_change%3Dins_AT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359510 13 32326517 51850 CAT C . . ALLELEID=66518;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326518AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2842441|Breast_Cancer_Information_Core__(BRCA2):766&base_change%3Ddel_AT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359510 13 32326520 254478 AT A . . ALLELEID=248912;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326523del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):767&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174857 13 32326531 51872 T C . . ALLELEID=66540;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326531T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359792 13 32326532 427464 C T . . ALLELEID=416242;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326532C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749053313 13 32326545 548400 T TG . . ALLELEID=538646;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326547dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281066 13 32326547 266890 GATCCTGAT G . . ALLELEID=261016;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32326550_32326557del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040605 13 32326548 266888 A AG . . ALLELEID=261015;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326548_32326549insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040603 13 32326550 548377 C CAACG . . ALLELEID=538647;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326550_32326551insAACG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281068 13 32326551 266891 C CAACG . . ALLELEID=261017;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326551_32326552insAACG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040606 13 32326553 37993 GAT G . . ALLELEID=46549;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32326554AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:740367|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:158949|Breast_Cancer_Information_Core__(BRCA2):802&base_change%3Ddel_AT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359533 13 32326554 51922 A CT . . ALLELEID=66590;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326554delinsCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507799 13 32326555 51926 T TA . . ALLELEID=66594;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN235586|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|bilateral_breast_cancer|not_provided;CLNHGVS=NC_000013.11:g.32326556dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507802 13 32326563 51943 G A . . ALLELEID=66611;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32326563G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:190808;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358809 13 32326564 38000 G A . . ALLELEID=46556;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326564G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358810 13 32326564 266900 GT G . . ALLELEID=261018;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326565del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040615 13 32326566 254479 C G . . ALLELEID=248913;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326566C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038053 13 32326570 234013 T C . . ALLELEID=234615;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326570T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660795 13 32326574 266907 TTAGC T . . ALLELEID=261020;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326577_32326580del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040622 13 32326575 266905 T TAGCTA . . ALLELEID=261019;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326576_32326580dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040620 13 32326575 185415 TAGC AGG . . ALLELEID=183635;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326575_32326578delinsAGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202156 13 32326576 51974 A AGCTAC . . ALLELEID=66642;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32326577_32326581dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507816 13 32326588 252412 C T . . AF_EXAC=0.00001;ALLELEID=246786;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32326588C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747726394 13 32326589 52015 AC A . . ALLELEID=66683;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32326592del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3885757|Breast_Cancer_Information_Core__(BRCA2):838&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359560 13 32326591 52014 C CCTTA . . ALLELEID=66682;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326592_32326595dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507830 13 32326594 548376 T TTGAG . . ALLELEID=538648;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326594_32326595insTGAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555281102 13 32326595 266925 A ATGAG . . ALLELEID=261021;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326595_32326596insTGAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281101 13 32326595 440433 AG A . . ALLELEID=434056;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32326596del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281103 13 32326609 185119 C A . . ALLELEID=183638;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32326609C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840912|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459973;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897704 13 32326609 182278 C T . . ALLELEID=180557;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32326609C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897704 13 32326615 9349 T G . . ALLELEID=24388;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32326615T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290020|Breast_Cancer_Information_Core__(BRCA2):859+2&base_change%3DT_to_G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2458874|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2436328|OMIM_Allelic_Variant:600185.0034;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=81002899 13 32326796 209652 T A . . AF_TGP=0.34824;ALLELEID=205868;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32326796T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3752451 13 32327154 209653 T C . . AF_TGP=0.00819;ALLELEID=205869;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32327154T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115974024 13 32327292 209654 A AC . . ALLELEID=205870;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32327292_32327293insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199954794 13 32327293 209655 A C . . AF_TGP=0.07428;ALLELEID=205871;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32327293A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=79990454 13 32327594 209656 C T . . AF_TGP=0.00140;ALLELEID=205872;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32327594C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=189044716 13 32327768 264863 A AT . . ALLELEID=259427;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32327782dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113733140 13 32327930 209657 A G . . AF_TGP=0.07368;ALLELEID=205873;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32327930A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=79347017 13 32327943 209658 T C . . AF_TGP=0.01577;ALLELEID=205874;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32327943T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115548886 13 32328244 264917 C T . . AF_TGP=0.00419;ALLELEID=259428;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32328244C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=531627369 13 32328257 209659 T C . . AF_TGP=0.25359;ALLELEID=205875;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32328257T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12869544 13 32328310 209660 C T . . AF_TGP=0.00220;ALLELEID=205876;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32328310C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183901354 13 32328640 209661 G A . . AF_TGP=0.00679;ALLELEID=205877;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32328640G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77534868 13 32328672 209662 A T . . AF_TGP=0.00819;ALLELEID=205878;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32328672A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113496137 13 32328764 264966 A G . . AF_TGP=0.00359;ALLELEID=259429;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32328764A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186147531 13 32328875 264864 A AGT . . ALLELEID=259430;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32328876GT[10];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397843915 13 32329440 219896 C G . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=222280;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32329440C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=568027879 13 32329441 52063 A G . . ALLELEID=66731;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32329441A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397507842 13 32329442 52060 G A . . ALLELEID=66728;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32329442G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002820 13 32329444 220004 C T . . AF_EXAC=0.00002;ALLELEID=222281;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32329444C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841514;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=768731187 13 32329444 91445 CAG C . . ALLELEID=96922;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32329446_32329447del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):862&base_change%3Ddel_AG|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841694|Invitae:4912542|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_670;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359575 13 32329454 266948 G T . . ALLELEID=261022;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32329454G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=774539540 13 32329463 52121 G T . . ALLELEID=66789;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32329463G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290170;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358884 13 32329467 9342 CTG C . . ALLELEID=24381;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Medulloblastoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Wilms_tumor_1|Breast-ovarian_cancer,_familial_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32329469_32329470del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:600185.0027|Breast_Cancer_Information_Core__(BRCA2):886&base_change%3Ddel_GT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:113557|Invitae:248701;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359604 13 32329471 52138 ATT A . . ALLELEID=66806;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32329473_32329474del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):890&base_change%3Ddel_TT|Invitae:4912545;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359609 13 32329474 266968 TCC T . . ALLELEID=261023;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32329475_32329476del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040671 13 32329478 231608 CA C . . ALLELEID=234617;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32329479del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659261 13 32329480 182307 T TGATA . . ALLELEID=180558;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32329481_32329484dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881601 13 32329483 52173 TACTA T . . ALLELEID=66841;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32329484_32329487del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507880 13 32329484 254480 AC A . . ALLELEID=248914;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32329485del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038054 13 32329487 254481 AC A . . ALLELEID=248915;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32329488del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038055 13 32329548 126192 C T . . AF_TGP=0.18590;ALLELEID=131730;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32329548C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724541|Breast_Cancer_Information_Core__(BRCA2):909+56&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2126042 13 32329687 209663 T G . . AF_TGP=0.00679;ALLELEID=205879;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32329687T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571625 13 32329701 209664 C T . . AF_TGP=0.00958;ALLELEID=205880;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32329701C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571626 13 32329790 209665 T A . . AF_TGP=0.00998;ALLELEID=205881;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32329790T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571628 13 32329806 264877 T TTA . . ALLELEID=259431;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32329807TA[7];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397843916 13 32330162 209666 A G . . AF_TGP=0.00958;ALLELEID=205882;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330162A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571631 13 32330317 264962 C T . . AF_TGP=0.00260;ALLELEID=259432;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330317C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571634 13 32330360 264948 G A . . AF_TGP=0.00399;ALLELEID=259433;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330360G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144864139 13 32330603 264959 G A . . AF_TGP=0.00300;ALLELEID=259434;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32330603G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571635 13 32330656 209667 G GT . . ALLELEID=205883;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330665dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200970975 13 32330917 236264 A G . . ALLELEID=237818;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32330917A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=878853287 13 32330925 38072 A T . . ALLELEID=46628;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32330925A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723743|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290314;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358913 13 32330930 266975 C CT . . ALLELEID=261024;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330931dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040677 13 32330932 38079 AT A . . ALLELEID=46635;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32330937del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1334484|Breast_Cancer_Information_Core__(BRCA2):924&base_change%3Ddel_T|Breast_Cancer_Information_Core__(BRCA2):928&base_change%3Ddel_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290332;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359630 13 32330937 52252 TC T . . ALLELEID=66920;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330939del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507892 13 32330945 184021 T C . . AF_EXAC=0.00004;AF_TGP=0.00060;ALLELEID=183641;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32330945T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2473357;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=185506536 13 32330949 266988 G GA . . ALLELEID=261025;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330952dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825350 13 32330949 183182 G T . . ALLELEID=181310;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330949G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=56383036 13 32330949 96848 GA G . . ALLELEID=102751;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32330952del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825350 13 32330958 231337 A T . . ALLELEID=234622;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32330958A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876659100 13 32330959 266995 AG A . . ALLELEID=261026;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32330960del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040694 13 32330960 266998 G GA . . ALLELEID=261027;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330965dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040697 13 32330965 548438 A AC . . ALLELEID=538649;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330965_32330966insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281462 13 32330965 267000 A AT . . ALLELEID=261029;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330966dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040698 13 32330965 52302 ATGAT A . . ALLELEID=66970;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32330966_32330969del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):957&base_change%3Ddel_TGAT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359645 13 32330966 266999 T TC . . ALLELEID=261028;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330966_32330967insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281463 13 32330969 231052 TA T . . ALLELEID=234624;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32330970del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658927 13 32330969 267003 TAGATTTATCGCTTCTGTGAC T . . ALLELEID=261030;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330973_32330992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040701 13 32330970 52311 A T . . ALLELEID=66979;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330970A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358959 13 32330974 267007 TTA T . . ALLELEID=261031;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330976_32330977del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040705 13 32330976 548355 A AAG . . ALLELEID=538650;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330976_32330977insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281465 13 32330978 52324 C T . . ALLELEID=66992;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32330978C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):969&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174892 13 32330979 267011 GC G . . ALLELEID=261032;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32330980del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040708 13 32330981 427501 T A . . AF_EXAC=0.00001;ALLELEID=416243;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330981T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756883537 13 32330981 433756 TTCTGTGACAGACA T . . ALLELEID=427351;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330982_32330994del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281467 13 32330984 216257 T A . . AF_EXAC=0.00003;ALLELEID=213028;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32330984T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767165913 13 32330984 52343 TG T . . ALLELEID=67011;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330985del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):976&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359654 13 32330986 38103 TGACA T . . ALLELEID=46659;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32330988ACAG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:709911|Breast_Cancer_Information_Core__(BRCA2):983&base_change%3Ddel_ACAG|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:170363;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359659 13 32330987 135814 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=139526;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32330987G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2410155|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA2_c.750G>A;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143214959 13 32330989 254482 CAG C . . ALLELEID=248916;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330991_32330992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038056 13 32330991 52354 GA G . . ALLELEID=67022;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):983&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359661 13 32330991 38106 GAC G . . ALLELEID=46662;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32330993_32330994del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3067314|Breast_Cancer_Information_Core__(BRCA2):984&base_change%3Ddel_CA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359662 13 32330992 52357 ACAGT A . . ALLELEID=67025;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330993_32330996del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):984&base_change%3Ddel_CAGT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359663 13 32330993 185997 C T . . ALLELEID=183642;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32330993C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202619 13 32330993 267023 CAG C . . ALLELEID=261033;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32330994_32330995del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040719 13 32331000 52382 AAC A . . ALLELEID=67050;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32331002CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):995&base_change%3Ddel_CA|Invitae:2406513;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359670 13 32331002 267029 CACAAA AAACAAT . . ALLELEID=261034;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331002_32331007delinsAAACAAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040725 13 32331003 52383 AC A . . ALLELEID=67051;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331004del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507930 13 32331003 9326 ACAAAT A . . ALLELEID=24365;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32331008_32331012del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):995&base_change%3Ddel_CAAAT|Invitae:719043|Breast_Cancer_Information_Core__(BRCA2):999&base_change%3Ddel_TCAAA|OMIM_Allelic_Variant:600185.0010;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359671 13 32331009 52395 C T . . ALLELEID=67063;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32331009C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290578;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358998 13 32331009 52403 CA C . . ALLELEID=67071;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331012del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=75096777 13 32331009 188425 CAA C . . ALLELEID=186441;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32331011_32331012del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:652194;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=75096777 13 32331009 441525 CAAAG C . . ALLELEID=434950;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32331011_32331014del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281477 13 32331011 427378 A G . . ALLELEID=416244;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32331011A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692112 13 32331011 38119 AAG A . . ALLELEID=46675;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32331013GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:247290|Breast_Cancer_Information_Core__(BRCA2):1006&base_change%3Ddel_GA|Breast_Cancer_Information_Core__(BRCA2):1003&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359677 13 32331012 52402 A T . . ALLELEID=67070;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32331012A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507937 13 32331014 96858 A G . . ALLELEID=102761;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331014A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=431825356 13 32331022 162101 C CA . . ALLELEID=171818;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32331024dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=VariO:0043;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=690016538 13 32331128 209936 G A . . AF_TGP=0.97404;ALLELEID=205884;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32331128G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206073 13 32331135 209668 C T . . AF_TGP=0.00419;ALLELEID=205885;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331135C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139877528 13 32331431 209669 G T . . AF_TGP=0.00679;ALLELEID=205886;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331431G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74865284 13 32331491 209670 C A . . AF_TGP=0.07328;ALLELEID=205887;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331491C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571638 13 32331778 209671 T C . . AF_TGP=0.00679;ALLELEID=205888;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331778T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571639 13 32331861 209672 A G . . AF_TGP=0.07368;ALLELEID=205889;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32331861A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11147486 13 32332100 209673 G C . . AF_TGP=0.00719;ALLELEID=205890;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332100G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=58259010 13 32332273 267048 AT A . . ALLELEID=261035;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332276del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040739 13 32332276 548381 T TG . . ALLELEID=538651;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332278dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281594 13 32332277 186230 G T . . ALLELEID=183644;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332277G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202796 13 32332278 267053 G GA . . ALLELEID=261036;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332283dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040744 13 32332285 184826 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=183645;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332285A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840877;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=142072914 13 32332287 52505 C G . . ALLELEID=67173;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332287C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174902 13 32332288 441361 AG A . . ALLELEID=434951;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332291del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281599 13 32332296 52523 C A . . ALLELEID=67191;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332296C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359068 13 32332296 52524 C G . . ALLELEID=67192;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332296C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359068 13 32332297 184667 A G . . ALLELEID=183646;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332297A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201605 13 32332299 38148 TTAAAG T . . ALLELEID=46704;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332304_32332308del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507400 13 32332306 427502 A G . . AF_EXAC=0.00001;ALLELEID=416245;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332306A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771011424 13 32332308 267069 A AT . . ALLELEID=261037;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332309dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040759 13 32332310 254483 AG A . . ALLELEID=248917;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332311del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038057 13 32332311 230949 GC G . . ALLELEID=234628;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332312del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658861 13 32332319 267084 GAC G . . ALLELEID=261038;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332320_32332321del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040773 13 32332321 267087 CCA C . . ALLELEID=261039;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332322CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040776 13 32332333 233409 G GTCAA . . ALLELEID=234629;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332335_32332338dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5764135;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660385 13 32332335 430601 C G . . ALLELEID=423249;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332335C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1131692035 13 32332343 41567 A C . . AF_ESP=0.03117;AF_TGP=0.07368;ALLELEID=50006;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332343A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460197|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:15706|Illumina_Laboratory_Services,Illumina:60938;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766173 13 32332345 184315 T C . . AF_EXAC=0.00001;ALLELEID=183647;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32332345T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855317;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=765832839 13 32332358 52683 G T . . ALLELEID=67351;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332358G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508009 13 32332361 267110 GT G . . ALLELEID=261040;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332362del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040795 13 32332366 231782 T A . . ALLELEID=234630;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332366T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876659359 13 32332367 252404 G T . . ALLELEID=246788;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332367G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=879255298 13 32332369 125928 AACAGTTGT GATACTTCAG . . ALLELEID=131466;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32332369_32332377delinsGATACTTCAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1119&base_change%3Ddel_9_ins_GATACTTCAG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174914 13 32332374 548346 T TC . . ALLELEID=538652;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332374_32332375insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281622 13 32332375 187641 T C . . ALLELEID=183648;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332375T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203887 13 32332375 52719 T TC . . ALLELEID=67387;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332375_32332376insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1125&base_change%3Dins_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359735 13 32332376 409425 GTA TT . . ALLELEID=399320;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332376_32332378delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=1060502385 13 32332378 52730 A AG . . ALLELEID=67398;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332379dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1128&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359738 13 32332381 548424 T TA . . ALLELEID=538653;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332382dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281627 13 32332382 52740 AC A . . ALLELEID=67408;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332384del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508033 13 32332383 267133 C CA . . ALLELEID=261041;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332383_32332384insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040815 13 32332387 215626 T G . . AF_EXAC=0.00001;ALLELEID=213029;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332387T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:718106;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757430441 13 32332391 423221 G T . . ALLELEID=408845;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332391G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359169 13 32332392 441491 AAGAT A . . ALLELEID=434954;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332395_32332398del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281630 13 32332395 52771 A AT . . ALLELEID=67439;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332396dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508039 13 32332396 184704 T C . . AF_EXAC=0.00002;ALLELEID=183649;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332396T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2269097|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2451235;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=184408918 13 32332397 267145 A AT . . ALLELEID=261042;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332397_32332398insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040824 13 32332398 254484 G GT . . ALLELEID=248918;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332403dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038058 13 32332403 441476 T TC . . ALLELEID=434955;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332404dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281638 13 32332404 254485 C A . . ALLELEID=248919;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332404C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038059 13 32332404 548343 C G . . ALLELEID=538654;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332404C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038059 13 32332404 267149 CA C . . ALLELEID=261043;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332405del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040828 13 32332405 52804 A G . . AF_EXAC=0.00004;ALLELEID=67472;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332405A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2320710;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359806 13 32332406 52812 TTA T . . ALLELEID=67480;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332408_32332409del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:212666|Breast_Cancer_Information_Core__(BRCA2):1158&base_change%3Ddel_AT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359755 13 32332425 267164 GA G . . ALLELEID=261044;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332427del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040843 13 32332428 52870 C CA . . ALLELEID=67538;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32332434dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1230610|Breast_Cancer_Information_Core__(BRCA2):1184&base_change%3Dins_A|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_17303_605;GENEINFO=BRCA2:675;ORIGIN=1;RS=80359770 13 32332428 267167 CA C . . ALLELEID=261045;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332434del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912579;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359770 13 32332430 52863 A T . . ALLELEID=67531;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332430A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508060 13 32332435 427467 T C . . AF_EXAC=0.00001;ALLELEID=416246;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332435T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776059220 13 32332436 409531 CT C . . ALLELEID=399162;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332437del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502454 13 32332439 52876 C T . . ALLELEID=67544;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332439C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291322;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359234 13 32332441 311661 A G . . AF_EXAC=0.00001;ALLELEID=335896;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332441A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:805631;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174927 13 32332442 267168 AAAGT A . . ALLELEID=261046;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332446_32332449del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040847 13 32332446 267169 TAAGA T . . ALLELEID=261047;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332448_32332451del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040848 13 32332447 219700 A T . . ALLELEID=222283;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332447A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622214 13 32332456 52898 C A . . AF_ESP=0.00085;AF_EXAC=0.00081;AF_TGP=0.00020;ALLELEID=67566;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332456C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460309|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_184|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:85428|Illumina_Laboratory_Services,Illumina:814787;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897706 13 32332457 267173 A T . . ALLELEID=261048;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332457A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359242 13 32332459 186501 G A . . ALLELEID=183650;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332459G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850949;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751890878 13 32332465 219579 G A . . AF_EXAC=0.00022;AF_TGP=0.00020;ALLELEID=222284;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332465G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852048;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=561002197 13 32332465 52925 G GA . . ALLELEID=67593;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:C4305467,SNOMED_CT:717919005;CLNDN=Breast-ovarian_cancer,_familial_2|Neuroendocrine_tumor_of_pancreas;CLNHGVS=NC_000013.11:g.32332472dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359777 13 32332465 52923 G GAA . . ALLELEID=67591;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332471_32332472dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359777 13 32332465 52924 GA G . . ALLELEID=67592;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32332472del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1222&base_change%3Ddel_A|Invitae:4089016;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359777 13 32332465 52922 GAA G . . ALLELEID=67590;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332471_32332472del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5545472|Breast_Cancer_Information_Core__(BRCA2):1221&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359777 13 32332472 548441 A AG . . ALLELEID=538655;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332472_32332473insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281681 13 32332472 38267 A AT . . ALLELEID=46823;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332476dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507437 13 32332473 267178 T TA . . ALLELEID=261049;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332473_32332474insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174931 13 32332473 125931 T TG . . ALLELEID=131469;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332473_32332474insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1223&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174931 13 32332483 427377 A G . . ALLELEID=416247;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332483A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897707 13 32332489 51045 C T . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=65713;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332489C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2535286|Breast_Cancer_Information_Core__(BRCA2):1239&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41293473 13 32332501 266601 T A . . ALLELEID=261050;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332501T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040339 13 32332502 37724 GA G . . ALLELEID=46280;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332507del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1257&base_change%3Ddel_A|Invitae:4912589|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721359;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359260 13 32332504 186064 A G . . AF_EXAC=0.00001;ALLELEID=183651;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332504A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=777755589 13 32332510 427509 T C . . AF_EXAC=0.00001;ALLELEID=416248;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332510T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746783617 13 32332518 51060 A G . . AF_ESP=0.00131;AF_EXAC=0.00039;AF_TGP=0.00240;ALLELEID=65728;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332518A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23618|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2389239;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55800493 13 32332522 185121 G A . . ALLELEID=183655;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332522G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201942 13 32332526 266604 G GA . . ALLELEID=261051;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332531dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040342 13 32332531 37725 A AT . . ALLELEID=46281;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32332532dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:909619|Breast_Cancer_Information_Core__(BRCA2):1282&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359261 13 32332532 254486 T TA . . ALLELEID=248920;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332533dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038060 13 32332534 185001 C T . . ALLELEID=183657;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332534C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462009;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201858 13 32332534 252438 CT C . . ALLELEID=246834;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332535del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255322 13 32332536 266605 C A . . ALLELEID=261052;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332536C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=769368098 13 32332536 266606 C G . . ALLELEID=261053;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332536C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=769368098 13 32332537 182279 A G . . ALLELEID=180563;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32332537A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881585 13 32332546 266607 TG T . . ALLELEID=261054;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332547del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040343 13 32332552 427520 G A . . AF_EXAC=0.00001;ALLELEID=416249;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332552G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174805 13 32332552 125933 G T . . ALLELEID=131471;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332552G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174805 13 32332557 51061 CA C . . ALLELEID=65729;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332560del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507569 13 32332570 230569 T C . . ALLELEID=234634;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332570T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658640 13 32332573 51062 A AT . . ALLELEID=65730;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332575dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:3840891;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507570 13 32332573 233148 A T . . ALLELEID=234635;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332573A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660225 13 32332575 266609 T G . . ALLELEID=261055;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332575T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040345 13 32332581 51064 C A . . ALLELEID=65732;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332581C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358407 13 32332581 495429 C G . . ALLELEID=487405;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332581C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358407 13 32332592 9329 A C . . AF_EXAC=0.27793;AF_TGP=0.24940;ALLELEID=24368;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:C1527349|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Ductal_breast_carcinoma|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332592A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14410|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459470|Illumina_Laboratory_Services,Illumina:12098|HGMD:CM002750|OMIM_Allelic_Variant:600185.0013;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144848 13 32332595 51065 C T . . ALLELEID=65733;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332595C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507572 13 32332601 51066 C T . . AF_EXAC=0.00003;AF_TGP=0.00100;ALLELEID=65734;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332601C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358408 13 32332603 427414 C A . . ALLELEID=416250;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332603C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174806 13 32332603 125935 C T . . ALLELEID=131473;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332603C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1353&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174806 13 32332603 51069 CT C . . ALLELEID=65737;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332606del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1356&base_change%3Ddel_T|Invitae:4912596;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359263 13 32332611 230478 GT G . . ALLELEID=234639;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332612del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658589 13 32332614 51070 GA G . . ALLELEID=65738;CLNDISDB=Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Focal-onset_seizure|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332616del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832283|Broad_Institute_Rare_Disease_Group,_Broad_Institute:78299317-d577-44b3-a06b-9defaed6a0ad|Breast_Cancer_Information_Core__(BRCA2):1366&base_change%3Ddel_A|Invitae:468307;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=17;RS=80359264 13 32332621 51071 CA C . . ALLELEID=65739;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332625del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1375&base_change%3Ddel_A|Invitae:3796254;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359265 13 32332627 51072 C A . . ALLELEID=65740;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332627C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359780 13 32332629 41541 C T . . AF_ESP=0.00109;AF_EXAC=0.00068;ALLELEID=49980;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32332629C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459482|Illumina_Laboratory_Services,Illumina:152411|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:142454|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288094;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41293475 13 32332631 51073 A T . . ALLELEID=65741;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332631A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358411 13 32332632 37726 AG A . . ALLELEID=46282;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332634del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3193194;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507262 13 32332639 254487 TGTACC T . . ALLELEID=248921;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332642_32332646del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038061 13 32332640 186223 G GTACC . . ALLELEID=183659;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332641_32332644dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202789 13 32332644 96762 C A . . AF_TGP=0.00100;ALLELEID=102665;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332644C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2396380|Illumina_Laboratory_Services,Illumina:252823;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507263 13 32332645 184355 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=183660;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332645G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2392872|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:180949;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148607710 13 32332649 427468 T C . . AF_EXAC=0.00001;ALLELEID=416251;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332649T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773412718 13 32332653 51075 CCTGTG C . . ALLELEID=65743;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332654_32332658del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507574 13 32332654 215434 C T . . ALLELEID=213030;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332654C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224274 13 32332657 441314 T A . . ALLELEID=434958;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332657T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786201237 13 32332657 184036 T C . . ALLELEID=183661;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332657T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201237 13 32332658 51076 G T . . ALLELEID=65744;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332658G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507575 13 32332659 51077 A C . . AF_EXAC=0.00001;ALLELEID=65745;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32332659A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56016241 13 32332660 229914 A G . . ALLELEID=234641;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332660A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658265 13 32332662 266612 G A . . ALLELEID=261056;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332662G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288100;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040347 13 32332663 265053 G A . . ALLELEID=260040;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332663G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886039315 13 32332663 254488 GTCTCAACTAACCCT G . . ALLELEID=248922;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332665_32332678del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038062 13 32332665 548423 C CTTTA . . ALLELEID=538657;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332666_32332667insTTAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281766 13 32332666 51079 T G . . ALLELEID=65747;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332666T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359781 13 32332666 548442 T TCAAC . . ALLELEID=538658;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332667_32332670dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281769 13 32332666 266613 T TCCAA . . ALLELEID=261057;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332667_32332668insCAAC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281768 13 32332666 548404 T TTTAG . . ALLELEID=538656;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332666_32332667insTTAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281767 13 32332667 51080 C CTTAG . . ALLELEID=65748;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332667_32332668insTTAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721411|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288106|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2560847;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397515635 13 32332667 266614 C CTTAT . . ALLELEID=261058;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332667_32332668insTTAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397515635 13 32332667 236829 C T . . ALLELEID=241643;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32332667C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=760815829 13 32332668 125936 A ATTAG . . ALLELEID=131474;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332668_32332669insTTAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1418&base_change%3Dins_TTAG|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288112;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359266 13 32332669 409454 AC A . . ALLELEID=399656;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1060502403 13 32332671 266615 TA T . . ALLELEID=261059;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332673del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040348 13 32332675 184423 C G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=183662;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332675C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843626;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=377308954 13 32332680 51081 C G . . ALLELEID=65749;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332680C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358413 13 32332681 37730 AG A . . ALLELEID=46286;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332683del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4110214;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507265 13 32332686 420224 T TA . . ALLELEID=408847;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332689dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281775 13 32332689 265369 AT A . . ALLELEID=260041;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332690del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886039504 13 32332694 51084 GC G . . ALLELEID=65752;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332697del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1447&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359267 13 32332696 51083 C G . . AF_EXAC=0.00004;ALLELEID=65751;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32332696C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174807 13 32332701 51087 TG T . . ALLELEID=65755;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332703del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1453&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359268 13 32332703 266616 G TTT . . ALLELEID=261060;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332703delinsTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040349 13 32332703 254489 GA G . . ALLELEID=248923;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332704del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038063 13 32332705 427530 G A . . ALLELEID=416252;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332705G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692145 13 32332705 125937 GA G . . ALLELEID=131475;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332709del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1459&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359269 13 32332710 51088 T TA . . ALLELEID=65756;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332711dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1461&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359270 13 32332710 266617 TACCCCTATTG ACAT . . ALLELEID=261061;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332710_32332720delinsACAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040350 13 32332711 266618 AC A . . ALLELEID=261062;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332715del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040351 13 32332714 232560 C T . . ALLELEID=234643;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332714C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=866473840 13 32332715 37731 CT C . . ALLELEID=46287;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN239275|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|BRCA2-Related_Disorders|not_provided;CLNHGVS=NC_000013.11:g.32332716del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Laboratory_Services,Illumina:708230|Breast_Cancer_Information_Core__(BRCA2):1466&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359271 13 32332719 51089 T A . . ALLELEID=65757;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332719T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507576 13 32332724 266619 AT A . . ALLELEID=261063;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332727del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040352 13 32332731 37732 C A . . ALLELEID=46288;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332731C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507266 13 32332731 266620 C G . . ALLELEID=261064;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332731C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507266 13 32332734 37733 GT G . . ALLELEID=46289;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332735del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1485&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359272 13 32332738 427522 C T . . AF_EXAC=0.00001;ALLELEID=416253;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332738C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779677234 13 32332739 51092 C T . . ALLELEID=65760;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332739C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288142;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=80358419 13 32332739 37735 CA C . . ALLELEID=46291;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332743del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:183313|Invitae:107087|Breast_Cancer_Information_Core__(BRCA2):1493&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359273 13 32332750 132687 A G . . AF_EXAC=0.00002;ALLELEID=136435;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332750A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2708173;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780531 13 32332751 51094 GA G . . ALLELEID=65762;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332756del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2407162|Breast_Cancer_Information_Core__(BRCA2):1506&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359274 13 32332753 51093 A G . . AF_ESP=0.00331;AF_EXAC=0.00134;AF_TGP=0.00659;ALLELEID=65761;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332753A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:78154|Illumina_Laboratory_Services,Illumina:1301135;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34355306 13 32332762 266623 A ATT . . ALLELEID=261065;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332763_32332764dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040355 13 32332762 388464 A G . . AF_EXAC=0.00002;ALLELEID=372685;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332762A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34770647 13 32332764 266624 T G . . ALLELEID=261066;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332764T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040356 13 32332764 266625 T TA . . ALLELEID=261067;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332765dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040357 13 32332765 51095 A G . . AF_EXAC=0.00002;ALLELEID=65763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332765A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1515&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359782 13 32332766 254490 GAC G . . ALLELEID=248924;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332768CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038064 13 32332770 37736 CAG C . . ALLELEID=46292;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32332772GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_67|Invitae:1229409|Breast_Cancer_Information_Core__(BRCA2):1524&base_change%3Ddel_GA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359276 13 32332771 184288 A G . . AF_EXAC=0.00001;ALLELEID=183667;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332771A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771350560 13 32332774 266626 G GA . . ALLELEID=261068;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332776dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040358 13 32332777 51097 CAAAA C . . ALLELEID=65765;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332778_32332781del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507577 13 32332778 37737 AAAAG A . . ALLELEID=46293;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32332780AAGA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1529&base_change%3Ddel_AAAG|Invitae:243343|Breast_Cancer_Information_Core__(BRCA2):1538&base_change%3Ddel_AAGA|Breast_Cancer_Information_Core__(BRCA2):1537&base_change%3Ddel_AAAG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359277 13 32332780 230033 A G . . ALLELEID=234647;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332780A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200552004 13 32332782 51098 GA G . . ALLELEID=65766;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332785del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1535&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359278 13 32332782 252440 GAA G . . ALLELEID=246836;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332784_32332785del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359278 13 32332784 185130 AAG A . . ALLELEID=183668;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332786_32332787del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786201950 13 32332786 51099 GAA G . . ALLELEID=65767;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332788_32332789del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507578 13 32332788 254491 AAGAT A . . ALLELEID=248925;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332789_32332792del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038065 13 32332791 266627 AT A . . ALLELEID=261069;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332795del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040359 13 32332794 266628 T TTC . . ALLELEID=261070;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332796_32332797dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040360 13 32332795 418992 TCTTA T . . ALLELEID=408849;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332799_32332802del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912615;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793572 13 32332798 55789 T TA . . ALLELEID=70445;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332799dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1549&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359281 13 32332803 55790 C A . . ALLELEID=70446;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332803C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358421 13 32332803 254492 C G . . ALLELEID=248926;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332803C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358421 13 32332804 427433 A G . . AF_EXAC=0.00001;ALLELEID=416254;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332804A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752685860 13 32332805 51102 G T . . ALLELEID=65770;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332805G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507579 13 32332806 225715 AG A . . ALLELEID=227528;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332807del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:137250;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320781 13 32332809 409439 A AT . . ALLELEID=399894;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332811dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281841 13 32332809 431290 ATT A . . ALLELEID=424725;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332810_32332811del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401892 13 32332811 266629 TC T . . ALLELEID=261071;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332812del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040361 13 32332812 51103 CTTTG C . . ALLELEID=65771;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332813_32332816del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507580 13 32332814 427504 T C . . AF_EXAC=0.00001;ALLELEID=416255;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332814T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761858047 13 32332815 548329 T A . . ALLELEID=538659;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332815T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555281845 13 32332825 427446 T C . . AF_EXAC=0.00001;ALLELEID=416256;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332825T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755908353 13 32332832 51107 C A . . ALLELEID=65775;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332832C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288184;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358424 13 32332832 184119 C T . . AF_EXAC=0.00001;ALLELEID=183670;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332832C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358424 13 32332836 125942 C CA . . ALLELEID=131480;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332840dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1590&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359282 13 32332836 51109 CA C . . ALLELEID=65777;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332840del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912621;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359282 13 32332837 182280 A T . . ALLELEID=180567;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332837A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881586 13 32332840 51108 A G . . AF_EXAC=0.00030;AF_TGP=0.00140;ALLELEID=65776;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332840A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:210974|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459497;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=55919657 13 32332842 266630 C CAG . . ALLELEID=261072;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332844GA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507583 13 32332842 51110 CAG C . . ALLELEID=65778;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332844GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507583 13 32332843 125943 A G . . AF_ESP=0.03101;AF_EXAC=0.05178;AF_TGP=0.07368;ALLELEID=131481;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332843A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:15707|Illumina_Laboratory_Services,Illumina:60961|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459509|Breast_Cancer_Information_Core__(BRCA2):1593&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1801439 13 32332846 427245 G A . . AF_EXAC=0.00317;ALLELEID=416257;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332846G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747489126 13 32332849 185816 G A . . ALLELEID=183671;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332849G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202479 13 32332852 266631 AT A . . ALLELEID=261074;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332854del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040363 13 32332854 266632 T G . . ALLELEID=261073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332854T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288196;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587781799 13 32332854 419547 TA T . . ALLELEID=408851;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332857del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793945 13 32332859 440457 G T . . ALLELEID=434081;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332859G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782159 13 32332861 219664 G A . . ALLELEID=222287;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332861G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622199 13 32332863 37738 A G . . AF_ESP=0.00023;AF_EXAC=0.00023;ALLELEID=46294;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32332863A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56403624 13 32332866 51114 CA C . . ALLELEID=65782;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332867del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507584 13 32332866 51113 CAG C . . ALLELEID=65781;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32332867_32332868del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1617&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359283 13 32332868 548338 G GT . . ALLELEID=538660;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332869dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281888 13 32332870 415658 G A . . ALLELEID=399659;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332870G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504613 13 32332873 51116 A C . . AF_ESP=0.00031;AF_EXAC=0.00029;ALLELEID=65784;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332873A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:21606|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459521;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571641 13 32332873 51117 A T . . ALLELEID=65785;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332873A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571641 13 32332876 91751 TAAGA T . . ALLELEID=97228;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332877_32332880del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122726 13 32332876 266633 TAAGAGAGATG T . . ALLELEID=261075;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332882_32332891del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040364 13 32332877 51118 A T . . AF_EXAC=0.00001;ALLELEID=65786;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Breast_neoplasm|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32332877A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358427 13 32332877 51119 AAG A . . ALLELEID=65787;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332879GA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2504602;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507586 13 32332879 427398 G A . . ALLELEID=416258;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332879G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174808 13 32332885 125945 T TG . . ALLELEID=131483;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332886dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1153735|Breast_Cancer_Information_Core__(BRCA2):1636&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359284 13 32332889 51120 G T . . ALLELEID=65788;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332889G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288202;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358428 13 32332892 51121 C T . . ALLELEID=65789;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32332892C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358429 13 32332894 232404 G A . . ALLELEID=234651;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332894G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2849951;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659746 13 32332901 51123 G T . . ALLELEID=65791;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32332901G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507587 13 32332905 141510 CTCAT C . . ALLELEID=151224;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332906_32332909del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781804 13 32332906 440423 TC T . . ALLELEID=434057;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332907del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281909 13 32332909 266634 TAC T . . ALLELEID=261076;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332911_32332912del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850987;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040365 13 32332921 51124 TC T . . ALLELEID=65792;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32332922del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507588 13 32332924 142646 T TG . . ALLELEID=152360;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332925dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782611 13 32332925 266635 G GCAGT . . ALLELEID=261077;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332926_32332929dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040366 13 32332927 51127 AGT TTAC . . ALLELEID=65795;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32332927_32332929delinsTTAC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507589 13 32332927 266636 AGT TTCC . . ALLELEID=261078;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332927_32332929delinsTTCC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=397507589 13 32332929 266637 TA T . . ALLELEID=261079;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332932del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040367 13 32332930 184367 A G . . AF_EXAC=0.00002;ALLELEID=183674;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32332930A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=753601570 13 32332934 51128 C T . . ALLELEID=65796;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332934C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288214;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358434 13 32332958 266638 GTGGCT G . . ALLELEID=261080;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332960_32332964del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040368 13 32332960 409427 G A . . ALLELEID=399181;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332960G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060502387 13 32332961 266639 G GC . . ALLELEID=261081;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332962dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040369 13 32332973 51134 CAG C . . ALLELEID=65802;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332974_32332975del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1724&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359285 13 32332974 51135 AG A . . ALLELEID=65803;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332977del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3095278;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507591 13 32332978 427524 T G . . AF_EXAC=0.00003;ALLELEID=416259;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332978T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=781722399 13 32332979 266640 ATCAAAAAG A . . ALLELEID=261082;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332982_32332989del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040370 13 32332981 266641 CA C . . ALLELEID=261083;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332986del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038066 13 32332981 254493 CAA C . . ALLELEID=248927;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32332985_32332986del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038066 13 32332987 51136 GTC G . . ALLELEID=65804;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32332989_32332990del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1739&base_change%3Ddel_CT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359286 13 32332991 51137 AT A . . ALLELEID=65805;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32332992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507592 13 32332992 41542 T C . . AF_ESP=0.00077;AF_EXAC=0.00072;AF_TGP=0.00040;ALLELEID=49981;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32332992T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:288524|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:145501|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-4;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897708 13 32333002 266642 AAG A . . ALLELEID=261084;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333004GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040372 13 32333006 51139 G T . . ALLELEID=65807;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32333006G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358438 13 32333010 441358 C A . . ALLELEID=434965;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333010C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555281935 13 32333014 266643 TAAAG T . . ALLELEID=261085;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333016_32333019del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040373 13 32333016 125947 A G . . AF_EXAC=0.00005;ALLELEID=131485;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32333016A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2198080|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834471;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897709 13 32333017 51140 A AG . . ALLELEID=65808;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333018dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507593 13 32333017 427420 A G . . AF_TGP=0.00020;ALLELEID=416260;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333017A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=557258016 13 32333019 125948 A AG . . ALLELEID=131486;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333020dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1769&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359288 13 32333022 51141 CT C . . ALLELEID=65809;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1775&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359289 13 32333023 185418 T C . . ALLELEID=183680;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333023T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202158 13 32333025 548328 TC T . . ALLELEID=538661;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333026del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281944 13 32333029 427531 T C . . AF_EXAC=0.00001;ALLELEID=416261;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333029T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=760647691 13 32333029 185180 TG T . . ALLELEID=183681;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333030del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786201986 13 32333032 184477 A T . . ALLELEID=183682;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333032A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201487 13 32333034 266644 GTT G . . ALLELEID=261086;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32333038_32333039del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6162950;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040374 13 32333045 216852 CAT C . . ALLELEID=213031;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333046AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=863224824 13 32333047 185899 T C . . AF_EXAC=0.00001;ALLELEID=183683;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333047T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201750635 13 32333049 51145 TG T . . ALLELEID=65813;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333050del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507594 13 32333056 415702 T C . . AF_EXAC=0.00004;ALLELEID=399329;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333056T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752309823 13 32333062 548345 C CA . . ALLELEID=538662;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333062_32333063insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555281966 13 32333062 182281 C T . . AF_EXAC=0.00001;ALLELEID=180568;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333062C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2679430;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881587 13 32333064 266645 TTAAA T . . ALLELEID=261087;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333065_32333068del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040375 13 32333065 266646 T CA . . ALLELEID=261088;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333065delinsCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040376 13 32333065 37748 T TA . . ALLELEID=46304;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333071dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1531246|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844131;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507272 13 32333066 252441 A T . . ALLELEID=246837;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333066A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=879255325 13 32333070 266647 AAG A . . ALLELEID=261089;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333072_32333073del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040377 13 32333072 51149 G T . . ALLELEID=65817;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333072G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=138734772 13 32333072 51152 GA G . . ALLELEID=65820;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333075del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4346312|Breast_Cancer_Information_Core__(BRCA2):1825&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359292 13 32333072 51151 GAA G . . ALLELEID=65819;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333074_32333075del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359292 13 32333072 51150 GAAACT G . . ALLELEID=65818;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333073_32333077del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1823&base_change%3Ddel_AAACT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359291 13 32333076 51154 CTG C . . ALLELEID=65822;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333077_32333078del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1827&base_change%3Ddel_TG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359293 13 32333077 51153 T C . . ALLELEID=65821;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32333077T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359783 13 32333085 125949 C CT . . ALLELEID=131487;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333086dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1835&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174811 13 32333089 51155 AAG A . . ALLELEID=65823;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333090_32333091del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507597 13 32333094 51156 GA G . . ALLELEID=65824;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333095del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1845&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359294 13 32333095 427423 A G . . ALLELEID=416262;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333095A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692142 13 32333099 266648 G T . . ALLELEID=261090;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333099G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040378 13 32333108 51161 ACT A . . ALLELEID=65829;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333109_32333110del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1859&base_change%3Ddel_CT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359295 13 32333111 51162 GT G . . ALLELEID=65830;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333114del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507598 13 32333119 187345 A G . . ALLELEID=183686;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32333119A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203659 13 32333120 91754 C T . . ALLELEID=97231;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333120C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122729 13 32333121 51165 AGAAG A . . ALLELEID=65833;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333124_32333127del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507599 13 32333122 51164 G A . . AF_EXAC=0.00023;AF_TGP=0.00020;ALLELEID=65832;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32333122G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=55986646 13 32333124 125951 A AG . . ALLELEID=131489;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333126dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1876&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359296 13 32333125 51166 G A . . AF_EXAC=0.00001;ALLELEID=65834;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333125G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174812 13 32333131 51168 CT C . . ALLELEID=65836;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32333132del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2426755|Breast_Cancer_Information_Core__(BRCA2):1882&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359297 13 32333136 431293 T G . . ALLELEID=424727;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333136T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288250;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876659627 13 32333137 184223 A G . . ALLELEID=183688;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333137A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201343 13 32333140 51169 T G . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=65837;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005628,MedGen:C0238033,SNOMED_CT:372096000|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_male_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32333140T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:122346;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358451 13 32333142 252812 CA C . . ALLELEID=247213;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333145del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255437 13 32333143 427404 A C . . ALLELEID=416263;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333143A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692127 13 32333146 266649 TTTA ATT . . ALLELEID=261091;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333146_32333149delinsATT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=483353110 13 32333146 266650 TTTAA T . . ALLELEID=261092;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333149_32333152del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040379 13 32333147 266651 TTAATTGA T . . ALLELEID=261093;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333152_32333158del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040380 13 32333147 51171 TTAATTGATAATGGA T . . ALLELEID=65839;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333148_32333161del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507600 13 32333148 51170 T G . . ALLELEID=65838;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333148T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:210409|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288256|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840243;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358452 13 32333148 51172 TA T . . ALLELEID=65840;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333150del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507601 13 32333152 266652 TG T . . ALLELEID=261094;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333153del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040381 13 32333159 51174 G T . . ALLELEID=65842;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333159G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358455 13 32333165 231646 TG T . . ALLELEID=234658;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333167del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659278 13 32333166 266653 GGCCA G . . ALLELEID=261095;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333167GCCA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040382 13 32333167 51175 G A . . ALLELEID=65843;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333167G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853676|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288262;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358456 13 32333173 441479 CA C . . ALLELEID=434967;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333174del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282016 13 32333178 266654 CCA C . . ALLELEID=261096;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333179CA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:10097927;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040383 13 32333181 548436 C CG . . ALLELEID=538663;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333181_32333182insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282023 13 32333182 254494 A AG . . ALLELEID=248928;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333182_32333183insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038067 13 32333182 51176 AC A . . ALLELEID=65844;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333183del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):1933&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359300 13 32333183 266655 CAG C . . ALLELEID=261097;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided;CLNHGVS=NC_000013.11:g.32333185_32333186del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040384 13 32333187 51178 ATTCTG A . . ALLELEID=65846;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333189_32333193del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507602 13 32333209 252442 AG A . . ALLELEID=246838;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32333211del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852147;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255326 13 32333214 266656 TAATATCCACTTTGAAA T . . ALLELEID=261098;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333217_32333232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040385 13 32333221 377578 C T . . ALLELEID=373676;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333221C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057520248 13 32333222 37753 A C . . AF_EXAC=0.00022;AF_TGP=0.00040;ALLELEID=46309;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333222A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459534|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2655564;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358457 13 32333223 51183 CT C . . ALLELEID=65851;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333226del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507605 13 32333226 51182 T A . . ALLELEID=65850;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333226T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507604 13 32333227 231308 G A . . AF_EXAC=0.00003;ALLELEID=234659;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333227G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780324598 13 32333227 51184 GA G . . ALLELEID=65852;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32333232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:904383|Breast_Cancer_Information_Core__(BRCA2):1982&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359301 13 32333228 37754 AAAAAG A . . ALLELEID=46310;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN239275|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|BRCA2-Related_Disorders|not_provided;CLNHGVS=NC_000013.11:g.32333233_32333237del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:96464|Breast_Cancer_Information_Core__(BRCA2):1983&base_change%3Ddel_GAAAA|Illumina_Laboratory_Services,Illumina:917721|Invitae:381627;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359302 13 32333234 231643 A T . . ALLELEID=234660;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333234A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507275 13 32333237 548389 AC A . . ALLELEID=538664;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333238del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282054 13 32333238 51187 CAAAT C . . ALLELEID=65855;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32333241_32333244del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:190164|Invitae:730599|Breast_Cancer_Information_Core__(BRCA2):1991&base_change%3Ddel_ATAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359303 13 32333238 266657 CAAATA C . . ALLELEID=261099;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333240_32333244del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359303 13 32333242 51188 TAA T . . ALLELEID=65856;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333243_32333244del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507606 13 32333245 51190 GTTTA G . . ALLELEID=65858;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333247TTAT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2001&base_change%3Ddel_TTAT|Invitae:1124965|Breast_Cancer_Information_Core__(BRCA2):2001&base_change%3Ddel_TATT|Breast_Cancer_Information_Core__(BRCA2):2000&base_change%3Ddel_TTTA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359304 13 32333251 266658 TTATG T . . ALLELEID=261100;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333252_32333255del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040387 13 32333254 230683 T C . . ALLELEID=234663;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333254T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658706 13 32333264 51192 G C . . AF_ESP=0.00038;AF_EXAC=0.00041;ALLELEID=65860;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32333264G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:179074|Illumina_Laboratory_Services,Illumina:625360|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852005|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459545;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56328701 13 32333264 266659 GATGAAACATCTTA G . . ALLELEID=261101;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333265_32333277del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040388 13 32333266 51193 T C . . AF_ESP=0.00577;AF_EXAC=0.00215;AF_TGP=0.00819;ALLELEID=65861;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32333266T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2016&base_change%3DT_to_C|Illumina_Laboratory_Services,Illumina:828964|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:37333;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571642 13 32333267 409463 G GA . . ALLELEID=399183;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333270dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1202904;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040389 13 32333267 51194 G T . . ALLELEID=65862;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333267G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358461 13 32333267 266660 GA G . . ALLELEID=261102;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333270del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040389 13 32333270 41543 A G . . AF_ESP=0.00146;AF_EXAC=0.00231;AF_TGP=0.00060;ALLELEID=49982;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32333270A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_188|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:146479|Illumina_Laboratory_Services,Illumina:143447;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897710 13 32333271 37756 CATCTT C . . ALLELEID=46312;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32333274_32333278del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2022&base_change%3Ddel_ATTTT|Invitae:518424|Breast_Cancer_Information_Core__(BRCA2):2024&base_change%3Ddel_TTTAT|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2482972;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174813 13 32333274 481597 C T . . ALLELEID=476660;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333274C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1046984 13 32333274 51196 CTTATA C . . ALLELEID=65864;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333275_32333279del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507607 13 32333275 431295 TTA T . . ALLELEID=424729;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333276TA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1135401894 13 32333275 266661 TTATAA T . . ALLELEID=261103;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333276_32333280del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040390 13 32333276 51197 T C . . AF_ESP=0.00185;AF_EXAC=0.00049;AF_TGP=0.00100;ALLELEID=65865;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32333276T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:190161|Illumina_Laboratory_Services,Illumina:733798;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=75419644 13 32333278 37759 T A . . ALLELEID=46315;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333278T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288322;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358464 13 32333278 236832 T C . . ALLELEID=241646;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333278T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358464 13 32333278 51199 T G . . ALLELEID=65867;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333278T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288328;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358464 13 32333281 51201 AG A . . ALLELEID=65869;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333283del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_217;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507608 13 32333282 51200 G A . . AF_EXAC=0.00003;ALLELEID=65868;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333282G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358466 13 32333283 37762 G GA . . ALLELEID=46318;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32333291dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2034&base_change%3Dins_A|Breast_Cancer_Information_Core__(BRCA2):2041&base_change%3Dins_A|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_288|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2402259|Invitae:174111;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=7;RS=80359306 13 32333283 37763 GA G . . ALLELEID=46319;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333291del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_346|Invitae:1179082|Breast_Cancer_Information_Core__(BRCA2):2041&base_change%3Ddel_A|Breast_Cancer_Information_Core__(BRCA2):2034&base_change%3Ddel_A|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18580_605;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359306 13 32333284 230659 A G . . ALLELEID=234665;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32333284A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658692 13 32333288 37760 A G . . AF_EXAC=0.00003;ALLELEID=46316;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333288A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2495945;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358467 13 32333289 266662 AA G . . ALLELEID=261104;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333289_32333290delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040391 13 32333290 548372 A AC . . ALLELEID=538665;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333290_32333291insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282094 13 32333292 51204 T TA . . ALLELEID=65872;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333293dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2042&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359310 13 32333296 183776 G A . . AF_EXAC=0.00004;ALLELEID=183693;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32333296G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=76844014 13 32333296 252443 G GA . . ALLELEID=246839;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333299dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255327 13 32333297 91760 A T . . ALLELEID=97237;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333297A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288364;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358471 13 32333303 51209 C T . . ALLELEID=65877;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333303C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358472 13 32333308 51211 AT A . . ALLELEID=65879;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333309del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2059&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359311 13 32333309 419477 TCAGAACTAATT ATCAG . . ALLELEID=408856;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333309_32333320delinsATCAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793898 13 32333310 37764 C A . . ALLELEID=46320;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333310C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288370|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:83544|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2753927;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358474 13 32333310 228323 C G . . ALLELEID=230442;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333310C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358474 13 32333310 422894 CA C . . ALLELEID=408857;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333311del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064796073 13 32333315 266663 CTAAT C . . ALLELEID=261105;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333319_32333322del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040392 13 32333318 51212 A AT . . ALLELEID=65880;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333320dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2540162|Breast_Cancer_Information_Core__(BRCA2):2070&base_change%3Dins_T|Invitae:4912683;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359312 13 32333322 266664 ACT A . . ALLELEID=261106;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333323_32333324del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040393 13 32333328 37765 C A . . ALLELEID=46321;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333328C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507278 13 32333328 51213 C CA . . ALLELEID=65881;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333329dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507610 13 32333328 37766 C G . . ALLELEID=46322;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333328C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507278 13 32333329 230349 A C . . ALLELEID=234666;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333329A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658518 13 32333329 231942 A G . . ALLELEID=234667;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333329A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658518 13 32333330 51217 G GC . . ALLELEID=65885;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333333dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507611 13 32333330 186184 GC G . . ALLELEID=183695;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333333del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507611 13 32333331 548431 C CA . . ALLELEID=538666;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333331_32333332insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282128 13 32333332 51215 C AA . . ALLELEID=65883;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32333332delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2082&base_change%3Ddel_C_ins_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174815 13 32333332 125970 C CA . . ALLELEID=131508;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333332_32333333insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2082&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359313 13 32333333 51216 C T . . ALLELEID=65884;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333333C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846657;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358476 13 32333343 37767 C T . . AF_EXAC=0.00002;ALLELEID=46323;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32333343C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358477 13 32333358 51219 CA C . . ALLELEID=65887;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32333359del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507612 13 32333363 438956 CTTACATT C . . ALLELEID=432777;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333365_32333371del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282146 13 32333365 51220 T TA . . ALLELEID=65888;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32333366dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_192|Breast_Cancer_Information_Core__(BRCA2):2116&base_change%3Dins%20A|Invitae:1923902;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359314 13 32333365 266665 T TAA . . ALLELEID=261107;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333366_32333367insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Invitae:5733882;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359314 13 32333365 433763 T TAC . . ALLELEID=427358;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333367_32333368dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282148 13 32333365 266666 TA T . . ALLELEID=261108;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333366del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040394 13 32333366 51221 AC A . . ALLELEID=65889;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32333367del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2117&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359315 13 32333367 37768 C T . . AF_ESP=0.00008;AF_EXAC=0.00018;ALLELEID=46324;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32333367C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:927378|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132788;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358479 13 32333376 51222 A ATT . . ALLELEID=65890;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333377_32333378insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507613 13 32333378 266667 G GTT . . ALLELEID=261109;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333378_32333379insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040395 13 32333378 51223 GC G . . ALLELEID=65891;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32333379del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507614 13 32333382 236277 AT A . . ALLELEID=237819;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333384del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853298 13 32333382 440428 ATTCAG A . . ALLELEID=434058;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333383_32333387del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282156 13 32333385 96772 C G . . ALLELEID=102675;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333385C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=431825288 13 32333458 264897 T C . . AF_TGP=0.00319;ALLELEID=259435;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333458T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=375176572 13 32333478 209674 ATATCT A . . ALLELEID=205891;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333482_32333486del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144549870 13 32333630 209675 C T . . AF_TGP=0.07368;ALLELEID=205892;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32333630C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571643 13 32333719 209676 A G . . AF_TGP=0.03235;ALLELEID=205893;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333719A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571644 13 32333776 264961 C T . . AF_TGP=0.00300;ALLELEID=259436;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333776C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145137109 13 32333969 209937 A G . . AF_TGP=0.97404;ALLELEID=205894;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32333969A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206074 13 32334210 209677 C T . . AF_TGP=0.34145;ALLELEID=205895;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32334210C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1963505 13 32334492 209678 A G . . AF_TGP=0.26757;ALLELEID=205896;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32334492A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1029304 13 32334587 264924 T C . . AF_TGP=0.00359;ALLELEID=259437;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32334587T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=190338696 13 32334687 209679 AG A . . ALLELEID=205897;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32334688del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=202150453 13 32335140 209680 TCAAG T . . AF_TGP=0.00679;ALLELEID=205898;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32335141_32335144del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571647 13 32335313 209681 C T . . AF_TGP=0.00579;ALLELEID=205899;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32335313C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571648 13 32335478 209682 G C . . AF_TGP=0.00679;ALLELEID=205900;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32335478G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=79662804 13 32335723 209683 T C . . AF_TGP=0.00439;ALLELEID=205901;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32335723T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150391946 13 32335744 264954 C A . . AF_TGP=0.00779;ALLELEID=259438;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32335744C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=556019160 13 32335828 209684 GA G . . AF_TGP=0.00998;ALLELEID=205902;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32335829del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571649 13 32335919 209685 T G . . AF_TGP=0.07348;ALLELEID=205903;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32335919T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571650 13 32335965 209686 T C . . AF_TGP=0.00619;ALLELEID=205904;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32335965T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=78579727 13 32336191 209687 T C . . AF_TGP=0.17452;ALLELEID=205905;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336191T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2320236 13 32336214 209688 G T . . AF_ESP=0.03056;AF_EXAC=0.04934;AF_TGP=0.07348;ALLELEID=205906;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336214G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571651 13 32336222 209689 T C . . AF_ESP=0.00331;AF_EXAC=0.00123;AF_TGP=0.00599;ALLELEID=205907;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336222T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116486565 13 32336266 136554 T C . . AF_ESP=0.00146;AF_EXAC=0.00043;AF_TGP=0.00240;ALLELEID=140257;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32336266T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2389240|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23619;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571652 13 32336266 51226 T G . . ALLELEID=65894;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336266T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571652 13 32336268 266668 T G . . ALLELEID=261110;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336268T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040396 13 32336272 231533 G A . . AF_EXAC=0.00005;ALLELEID=234675;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336272G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779226644 13 32336277 548333 C CAT . . ALLELEID=538667;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336277_32336278insAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282353 13 32336277 266669 C CTA . . ALLELEID=261111;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336278_32336279insAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040397 13 32336283 37769 TG T . . ALLELEID=46325;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32336284del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1838543|Breast_Cancer_Information_Core__(BRCA2):2157&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359316 13 32336284 51229 GA G . . ALLELEID=65897;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336288del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507616 13 32336293 51230 C T . . AF_ESP=0.00100;AF_EXAC=0.00092;AF_TGP=0.00040;ALLELEID=65898;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32336293C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:254414|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:74197|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462044|Breast_Cancer_Information_Core__(BRCA2):2166&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897711 13 32336297 230600 TC T . . ALLELEID=234676;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336298del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658660 13 32336298 266670 C G . . ALLELEID=261112;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336298C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040398 13 32336300 91764 C T . . ALLELEID=97241;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32336300C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_185|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288388;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122735 13 32336314 51232 A G . . ALLELEID=65900;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336314A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174817 13 32336315 187587 G T . . ALLELEID=183699;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336315G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786203845 13 32336317 545772 AC A . . ALLELEID=536423;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336319del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282375 13 32336319 37770 C G . . AF_ESP=0.00077;AF_EXAC=0.00071;ALLELEID=46326;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32336319C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:138566|Illumina_Laboratory_Services,Illumina:261248;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897712 13 32336323 427536 T A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416264;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336323T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=527579384 13 32336325 37771 T A . . ALLELEID=46327;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336325T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507279 13 32336333 266671 A ACTAG . . ALLELEID=261113;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336336_32336339dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040399 13 32336335 427488 T C . . AF_EXAC=0.00001;ALLELEID=416265;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336335T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=763714374 13 32336336 409532 AG A . . ALLELEID=399677;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336337del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502455 13 32336340 254495 CT C . . ALLELEID=248929;CLNDISDB=MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Carcinoma_of_pancreas|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336344del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038068 13 32336350 232442 A G . . AF_EXAC=0.00001;ALLELEID=234678;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336350A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750349385 13 32336359 184412 G A . . AF_EXAC=0.00002;ALLELEID=183701;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336359G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2609768;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755049218 13 32336375 266673 GA G . . ALLELEID=261114;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336378del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040401 13 32336377 234156 A G . . AF_EXAC=0.00002;ALLELEID=234679;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336377A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846549;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758677638 13 32336379 91766 CA C . . ALLELEID=97243;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336380del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122737 13 32336379 266674 CAT C . . ALLELEID=261115;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336380_32336381del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040402 13 32336380 184028 A G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=183702;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336380A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2461086|Illumina_Laboratory_Services,Illumina:684482|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2252425;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147381487 13 32336380 51237 AT A . . ALLELEID=65905;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336381del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2254&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359317 13 32336387 252815 AATAAT A . . ALLELEID=247216;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336389_32336393del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255440 13 32336389 37773 TA T . . ALLELEID=46329;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336391del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2264&base_change%3Ddel_A|Invitae:3387375;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359318 13 32336398 186684 A G . . AF_EXAC=0.00002;ALLELEID=183704;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336398A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747363339 13 32336399 246150 AT A . . ALLELEID=244842;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336400del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879254122 13 32336399 51238 ATC A . . ALLELEID=65906;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336400TC[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2277&base_change%3Ddel_TC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359319 13 32336399 431296 ATCTC A . . ALLELEID=424730;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336400TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359319 13 32336401 234130 C T . . ALLELEID=234681;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32336401C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660868 13 32336413 142868 TGATTA T . . ALLELEID=152582;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336414_32336418del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782780 13 32336419 51240 T G . . ALLELEID=65908;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336419T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358485 13 32336437 231240 T C . . AF_EXAC=0.00002;ALLELEID=234682;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32336437T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842826;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=777141329 13 32336437 254496 TAAGGA T . . ALLELEID=248930;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336440_32336444del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2312&base_change%3Ddel_AGGAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359321 13 32336441 96776 G GA . . ALLELEID=102679;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336446dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825292 13 32336441 266675 G T . . ALLELEID=261116;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336441G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=431825291 13 32336446 427424 A G . . ALLELEID=416266;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336446A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659230 13 32336446 37774 AC A . . ALLELEID=46330;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336447del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2320&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359322 13 32336448 51242 TA T . . ALLELEID=65910;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336449del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2322&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359323 13 32336448 266676 TAC T . . ALLELEID=261117;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32336450_32336451del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040403 13 32336449 182283 A G . . AF_EXAC=0.00001;ALLELEID=180572;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336449A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2401125;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897714 13 32336450 236835 C T . . ALLELEID=241649;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336450C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=878853559 13 32336452 427436 G A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416267;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336452G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358486 13 32336452 51244 GTTAT G . . ALLELEID=65912;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32336454TATT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:146190|Invitae:4311817|Breast_Cancer_Information_Core__(BRCA2):2331&base_change%3Ddel_TATT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359324 13 32336462 266677 AC A . . ALLELEID=261118;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336466del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040404 13 32336464 184623 C T . . AF_EXAC=0.00001;ALLELEID=183705;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336464C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830246;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762499878 13 32336476 252816 TTC T . . ALLELEID=247217;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336478CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255441 13 32336480 427441 C T . . ALLELEID=416268;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336480C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358489 13 32336482 184775 G C . . AF_EXAC=0.00008;ALLELEID=183706;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336482G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834447;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=554040246 13 32336484 266678 C G . . ALLELEID=261119;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336484C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040405 13 32336488 548419 C A . . ALLELEID=538668;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336488C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=535547513 13 32336488 185999 C T . . AF_EXAC=0.00002;AF_TGP=0.00040;ALLELEID=183707;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32336488C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=535547513 13 32336491 224467 G T . . ALLELEID=226164;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336491G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886037813 13 32336492 266680 C T . . ALLELEID=261120;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336492C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040407 13 32336500 182284 A G . . AF_ESP=0.00054;AF_EXAC=0.00012;AF_TGP=0.00040;ALLELEID=180573;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336500A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2389250;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=112566179 13 32336501 266681 C CA . . ALLELEID=261121;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336502dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040408 13 32336502 236836 AGT A . . ALLELEID=241650;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336504TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=878853560 13 32336504 51250 TG T . . ALLELEID=65918;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336505del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507618 13 32336506 233600 T A . . ALLELEID=234687;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336506T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876660512 13 32336509 440427 AAATG A . . ALLELEID=434059;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336511_32336514del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282489 13 32336515 233331 T C . . ALLELEID=234688;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336515T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660339 13 32336524 37776 C CA . . ALLELEID=46332;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336530dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2403&base_change%3Dins_A|Invitae:3406706;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=276174819 13 32336530 183871 A G . . ALLELEID=183708;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336530A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358491 13 32336536 233461 A G . . ALLELEID=234689;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336536A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660424 13 32336544 419078 AAGAAG A . . ALLELEID=408860;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336547_32336551del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793627 13 32336550 266682 AG A . . ALLELEID=261122;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336552del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040409 13 32336556 548379 T TAA . . ALLELEID=538669;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336556_32336557insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282521 13 32336557 266683 G GAA . . ALLELEID=261123;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336557_32336558insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040410 13 32336560 266684 TG T . . ALLELEID=261124;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336561del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040411 13 32336561 266686 GCAGCATGT G . . ALLELEID=261126;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336564_32336571del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040413 13 32336562 266685 CA C . . ALLELEID=261125;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336563del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040412 13 32336563 136555 A G . . AF_ESP=0.00015;AF_EXAC=0.00006;ALLELEID=140258;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336563A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2445586|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:26684;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144984153 13 32336566 125978 A AT . . ALLELEID=131516;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336567dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2440&base_change%3Dins_T|Invitae:6931717;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359325 13 32336566 135793 A C . . ALLELEID=139505;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336566A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780647 13 32336566 184287 A G . . ALLELEID=183709;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336566A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780647 13 32336569 91771 T A . . ALLELEID=97248;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336569T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122742 13 32336572 427387 C T . . ALLELEID=416269;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336572C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692117 13 32336579 51257 C T . . AF_EXAC=0.00001;ALLELEID=65925;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336579C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288424;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358494 13 32336579 254497 CA C . . ALLELEID=248931;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336581del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038070 13 32336581 184184 A G . . AF_EXAC=0.00001;ALLELEID=183711;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336581A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2386462;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748757085 13 32336584 125979 T C . . AF_ESP=0.03129;AF_EXAC=0.05158;AF_TGP=0.07348;ALLELEID=131517;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32336584T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:60971|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459559|Breast_Cancer_Information_Core__(BRCA2):2457&base_change%3DT_to_C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:15708;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1801499 13 32336586 233389 C A . . ALLELEID=234692;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336586C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507282 13 32336586 37777 C G . . ALLELEID=46333;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336586C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507282 13 32336586 409589 CA C . . ALLELEID=399199;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336590del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502484 13 32336594 236837 G T . . ALLELEID=241651;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336594G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=878853561 13 32336597 252817 TAC T . . ALLELEID=247218;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336599_32336600del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_441|Invitae:12100887;GENEINFO=BRCA2:675;ORIGIN=1;RS=879255442 13 32336599 266688 C CATTCAAAAGTGGAATTCAAA . . ALLELEID=261127;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336600_32336601insTTCAAAAGTGGAATTCAAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040415 13 32336599 548371 C CTTCAAAAGTGGAATTCAAAA . . ALLELEID=538670;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336599_32336600insTTCAAAAGTGGAATTCAAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282569 13 32336605 266689 T TA . . ALLELEID=261128;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336606dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040416 13 32336605 51260 TACTG T . . ALLELEID=65928;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32336609_32336612del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2482&base_change%3Ddel_GACT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359326 13 32336607 91773 CTG C . . ALLELEID=97250;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336608_32336609del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122744 13 32336608 415676 T G . . AF_EXAC=0.00001;ALLELEID=399207;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336608T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2455231;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=760593257 13 32336609 266690 G GA . . ALLELEID=261129;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336610dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040417 13 32336610 231717 AC A . . ALLELEID=234693;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336611del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659318 13 32336611 184350 C T . . AF_EXAC=0.00002;ALLELEID=183714;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336611C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:173157;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766384913 13 32336611 51261 CT C . . ALLELEID=65929;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336614del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507621 13 32336617 379498 A G . . ALLELEID=373401;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336617A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057520621 13 32336618 266691 T TC . . ALLELEID=261130;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336621dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040418 13 32336620 427409 C T . . ALLELEID=416270;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336620C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692132 13 32336621 373824 C T . . ALLELEID=360712;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336621C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057518637 13 32336623 266693 GAA G . . ALLELEID=261132;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336626_32336627del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912721;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040420 13 32336624 266692 A T . . ALLELEID=261131;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336624A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040419 13 32336627 422682 AG A . . ALLELEID=408861;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336628del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795934 13 32336629 184404 T C . . ALLELEID=183715;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336629T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=142243359 13 32336630 254498 CT C . . ALLELEID=248933;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336634del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038071 13 32336630 266694 CTT C . . ALLELEID=261133;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336633_32336634del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912723;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038071 13 32336632 254499 TTTATA T . . ALLELEID=248932;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336634_32336638del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=770648856 13 32336641 185503 T C . . ALLELEID=183716;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336641T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202227 13 32336641 51266 TC T . . ALLELEID=65934;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336642del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2515&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359327 13 32336667 141901 T G . . ALLELEID=151615;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336667T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288442;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782095 13 32336673 254500 CT C . . AF_EXAC=0.00001;ALLELEID=248934;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336674del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=774808238 13 32336677 427400 T G . . ALLELEID=416271;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336677T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692124 13 32336678 254501 TC T . . ALLELEID=248935;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336680del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507284 13 32336684 91775 G GA . . ALLELEID=97252;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32336685dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:600185.0026|Breast_Cancer_Information_Core__(BRCA2):2558&base_change%3Dins_A|Invitae:1000434;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359328 13 32336690 418837 CT C . . ALLELEID=408864;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336691del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793467 13 32336692 51271 G T . . ALLELEID=65939;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336692G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359784 13 32336694 141070 C G . . ALLELEID=150784;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336694C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587781471 13 32336705 41544 A G . . AF_EXAC=0.00031;AF_TGP=0.00359;ALLELEID=49983;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336705A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:636165|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:100309;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=11571653 13 32336718 254502 GC G . . ALLELEID=248936;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336719del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038074 13 32336719 427481 C T . . AF_EXAC=0.00002;ALLELEID=416272;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336719C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2848745;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773035582 13 32336723 91776 G T . . ALLELEID=97253;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336723G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2408083;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122746 13 32336723 91777 GA G . . ALLELEID=97254;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336725del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122747 13 32336727 51273 C A . . ALLELEID=65941;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32336727C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507624 13 32336731 51274 C A . . ALLELEID=65942;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336731C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358503 13 32336731 182309 C CA . . ALLELEID=180576;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336735dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2277960;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881602 13 32336731 441490 C G . . ALLELEID=434972;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336731C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358503 13 32336746 156166 G A . . ALLELEID=165965;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336746G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855316;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587776462 13 32336749 266695 CA C . . ALLELEID=261134;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336752del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040422 13 32336751 433767 A AAGGTAACAATTATGAATCTGATGTTG . . ALLELEID=427362;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336753_32336778dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282658 13 32336752 266696 A AG . . ALLELEID=261135;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336754dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040423 13 32336755 51276 TAACAATTATGA T . . ALLELEID=65944;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336757_32336767del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507625 13 32336756 267635 AACAATTATGAATCTGATGT A . . ALLELEID=262817;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336757_32336775del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040923 13 32336764 236840 T C . . ALLELEID=241654;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32336764T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358504 13 32336764 37784 T G . . ALLELEID=46340;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32336764T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288460;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358504 13 32336767 136556 A G . . ALLELEID=140259;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336767A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:920696|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2389238;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780866 13 32336770 229986 T C . . ALLELEID=234697;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336770T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658319 13 32336771 51278 G C . . AF_EXAC=0.00001;ALLELEID=65946;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32336771G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:839947|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288466|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2533077;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56404215 13 32336773 427372 T C . . ALLELEID=416273;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336773T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692107 13 32336774 266697 G GT . . ALLELEID=261136;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336776dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040424 13 32336779 91778 A G . . ALLELEID=97255;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336779A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=55646808 13 32336781 37786 T G . . ALLELEID=46342;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336781T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288472;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507285 13 32336784 266698 CCAAAAATA C . . ALLELEID=261137;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336785_32336792del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040425 13 32336785 51284 C CA . . ALLELEID=65952;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336790dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:3475715;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359329 13 32336785 51283 CA C . . ALLELEID=65951;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336790del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2663&base_change%3Ddel_A|Invitae:4912732;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359329 13 32336792 125981 A AT . . ALLELEID=131519;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336794dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2667&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174822 13 32336794 51286 TC T . . ALLELEID=65954;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336797del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507627 13 32336799 51287 TG T . . ALLELEID=65955;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336801del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2674&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359330 13 32336801 51289 GA G . . ALLELEID=65957;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336805del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2678&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359331 13 32336804 266699 A AAG . . ALLELEID=261138;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336806_32336807dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040426 13 32336810 51290 C T . . ALLELEID=65958;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336810C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507629 13 32336823 266700 CT C . . ALLELEID=261139;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336826del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3885530;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040427 13 32336825 51295 TTAAATG T . . ALLELEID=65963;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336826_32336831del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2699&base_change%3Ddel_TAAATG|Invitae:4912741;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174823 13 32336826 51294 T G . . ALLELEID=65962;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336826T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507631 13 32336826 409504 TA T . . ALLELEID=399936;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336829del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502437 13 32336831 37787 G GA . . ALLELEID=46343;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336835dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1788440;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507286 13 32336839 136557 T C . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=140260;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336839T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2573991;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45619134 13 32336844 548350 A AT . . ALLELEID=538671;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336844_32336845insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282700 13 32336845 266703 C CT . . ALLELEID=261140;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336845_32336846insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040430 13 32336845 187581 C T . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=183722;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336845C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1840279;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=56331088 13 32336849 186345 G T . . ALLELEID=183723;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336849G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202875 13 32336851 184465 G A . . ALLELEID=183724;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336851G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201479 13 32336854 427388 G A . . ALLELEID=416274;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336854G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692118 13 32336854 232597 GT G . . ALLELEID=234700;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336856del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659862 13 32336863 266704 TGAAAA T . . ALLELEID=261141;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336864_32336868del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040431 13 32336864 266707 G GA . . ALLELEID=261143;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336869dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040433 13 32336864 266706 GA G . . ALLELEID=261142;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336869del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040433 13 32336872 51299 C A . . ALLELEID=65967;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32336872C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358516 13 32336880 125985 T TA . . ALLELEID=131523;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336881dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2754&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359332 13 32336881 236841 A C . . ALLELEID=241655;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32336881A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770778164 13 32336881 185410 A G . . AF_EXAC=0.00001;ALLELEID=183725;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32336881A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:231970;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770778164 13 32336890 427475 T G . . AF_EXAC=0.00001;ALLELEID=416275;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336890T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776556224 13 32336892 266709 C CA . . ALLELEID=261145;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336894dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040436 13 32336892 51301 C G . . ALLELEID=65969;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336892C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358518 13 32336893 51302 A C . . AF_ESP=0.00015;AF_EXAC=0.00081;AF_TGP=0.00100;ALLELEID=65970;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32336893A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459571|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:79083|Breast_Cancer_Information_Core__(BRCA2):2766&base_change%3DA_to_C|Illumina_Laboratory_Services,Illumina:286054;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571654 13 32336893 51303 A G . . ALLELEID=65971;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336893A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571654 13 32336894 266708 A T . . ALLELEID=261144;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336894A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040435 13 32336898 51304 AG A . . ALLELEID=65972;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336900del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2773&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359333 13 32336903 254503 C T . . ALLELEID=248937;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336903C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038075 13 32336907 266710 TC T . . ALLELEID=261146;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336908del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040437 13 32336915 51307 AAC A . . ALLELEID=65975;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336917CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1017429|Breast_Cancer_Information_Core__(BRCA2):2792&base_change%3Ddel_CA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359334 13 32336924 142288 C CT . . ALLELEID=152002;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336925dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:3659019;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782361 13 32336924 427519 C T . . AF_EXAC=0.00001;ALLELEID=416276;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336924C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767596766 13 32336936 37793 C CA . . ALLELEID=46349;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32336943dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:859930|Breast_Cancer_Information_Core__(BRCA2):2816&base_change%3Dins_A|Breast_Cancer_Information_Core__(BRCA2):2810&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359335 13 32336936 441317 C T . . ALLELEID=434977;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336936C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=773356478 13 32336938 51308 AAAAAATC A . . ALLELEID=65976;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336941_32336947del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2814&base_change%3Ddel_AAATCAA|Breast_Cancer_Information_Core__(BRCA2):2812&base_change%3Ddel_AAAAATC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359336 13 32336943 51310 AT A . . AF_EXAC=0.00001;ALLELEID=65978;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336944del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507632 13 32336945 409469 C T . . ALLELEID=399939;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336945C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1060502414 13 32336948 266711 G T . . ALLELEID=261147;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336948G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782014 13 32336948 125988 GA G . . ALLELEID=131526;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2823&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=483353111 13 32336948 51311 GAAGA G . . ALLELEID=65979;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32336951_32336954del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507633 13 32336953 233440 A G . . ALLELEID=234703;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336953A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780549 13 32336956 182285 T G . . ALLELEID=180578;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32336956T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881589 13 32336957 51313 AC A . . ALLELEID=65981;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336958del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2831&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174824 13 32336961 252823 C G . . ALLELEID=247224;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32336961C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358523 13 32336963 231055 A AT . . ALLELEID=234704;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336966dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658929 13 32336967 51315 C A . . ALLELEID=65983;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32336967C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507634 13 32336967 91779 C CA . . ALLELEID=97256;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336972dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:6610438;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122748 13 32336967 187740 C G . . ALLELEID=183728;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336967C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507634 13 32336967 51316 C TTT . . ALLELEID=65984;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32336967delinsTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507635 13 32336971 220166 A G . . ALLELEID=222295;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336971A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=202047206 13 32336971 37795 AAT A . . ALLELEID=46351;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336973_32336974del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507290 13 32336972 91780 A AT . . ALLELEID=97257;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336973dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2457665;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122749 13 32336976 548363 C CG . . ALLELEID=538672;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336976_32336977insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282757 13 32336976 254504 C CT . . ALLELEID=248938;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32336977dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038076 13 32336976 231054 CTG C . . ALLELEID=234705;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32336978_32336979del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2368412;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658928 13 32336988 51318 ACT A . . ALLELEID=65986;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32336989CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2864&base_change%3Ddel_CT|Invitae:1917489;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174826 13 32336991 51319 CTG C . . ALLELEID=65987;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32336992_32336993del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507636 13 32336996 230582 G T . . ALLELEID=234707;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32336996G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876658648 13 32336999 254505 CT C . . ALLELEID=248939;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337003del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038077 13 32337001 254782 T A . . ALLELEID=254846;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32337001T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886038221 13 32337004 266712 CT C . . ALLELEID=261148;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337005del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040438 13 32337005 51322 TCAGA T . . ALLELEID=65990;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337008_32337011del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2881&base_change%3Ddel_GACA|Invitae:2620623;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359340 13 32337006 254506 C A . . ALLELEID=248940;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337006C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=777421358 13 32337006 231724 C G . . ALLELEID=234708;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337006C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=777421358 13 32337008 254507 GAC G . . ALLELEID=248941;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337010_32337011del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=764019690 13 32337010 266713 CA C . . ALLELEID=261149;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337012del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1794772;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040439 13 32337012 254508 A ATG . . AF_EXAC=0.00001;ALLELEID=248942;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337013_32337014dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=753953146 13 32337012 37796 ATG A . . ALLELEID=46352;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337013_32337014del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852462;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507291 13 32337016 232641 G A . . ALLELEID=234710;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337016G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659892 13 32337021 441290 AT A . . ALLELEID=434980;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282786 13 32337022 142444 T C . . ALLELEID=152158;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337022T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587782469 13 32337030 246127 TC T . . ALLELEID=244843;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337032del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879254111 13 32337035 51326 G A . . AF_ESP=0.00038;AF_EXAC=0.00004;ALLELEID=65994;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337035G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2429166|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA2_c.2680G>A;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897715 13 32337038 51327 GC G . . ALLELEID=65995;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337039del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2912&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359342 13 32337043 415680 T C . . AF_EXAC=0.00001;ALLELEID=399699;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337043T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769652613 13 32337043 91784 TGAAAG T . . ALLELEID=97261;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337047_32337051del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122752 13 32337053 51328 A G . . AF_EXAC=0.00004;ALLELEID=65996;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337053A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55736268 13 32337055 51331 TC T . . ALLELEID=65999;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337056del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507637 13 32337056 266714 CT C . . ALLELEID=261150;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337058del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040440 13 32337058 184698 T A . . ALLELEID=183733;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337058T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201627 13 32337070 232441 T TA . . ALLELEID=234711;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337071dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659767 13 32337085 51332 TG T . . ALLELEID=66000;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337086del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2959&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359344 13 32337091 189178 AGACTT A . . ALLELEID=186872;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32337093ACTTG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4912757|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2634769;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204752 13 32337094 125992 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=131530;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337094C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2967&base_change%3DC_to_T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2529693;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174829 13 32337099 266716 CTT C . . ALLELEID=261151;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337100_32337101del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040442 13 32337102 266717 GT G . . ALLELEID=261152;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337103del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040443 13 32337103 51336 T A . . ALLELEID=66004;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337103T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507638 13 32337105 266718 TA T . . ALLELEID=261153;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337108del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040444 13 32337106 184041 A G . . AF_EXAC=0.00001;ALLELEID=183737;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337106A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854643;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=765644162 13 32337108 430600 AC A . . ALLELEID=423248;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337109del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282830 13 32337109 185351 C T . . AF_EXAC=0.00002;ALLELEID=183738;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337109C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2848755;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=753073979 13 32337110 96782 G A . . AF_EXAC=0.00001;ALLELEID=102685;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337110G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853838;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=431825298 13 32337112 548336 A AATGG . . ALLELEID=538673;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337112_32337113insATGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282834 13 32337112 51337 AC A . . ALLELEID=66005;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32337115del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):2988&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359346 13 32337113 266719 C CATGG . . ALLELEID=261154;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337113_32337114insATGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040445 13 32337116 51338 A AT . . ALLELEID=66006;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337120dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507639 13 32337118 266720 TTTCAAGAACTCTAC T . . ALLELEID=261155;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337119_32337132del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040446 13 32337126 51342 ACT A . . ALLELEID=66010;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337127CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507641 13 32337127 51341 C CT . . ALLELEID=66009;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337128dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507640 13 32337127 231249 C T . . ALLELEID=234714;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337127C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659051 13 32337129 266721 C CT . . ALLELEID=261156;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337130dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040447 13 32337129 418078 CT C . . ALLELEID=408871;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337130del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793063 13 32337130 427448 T C . . AF_EXAC=0.00001;ALLELEID=416277;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337130T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756859735 13 32337134 266722 ATGGTT A . . ALLELEID=261157;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337136_32337140del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040448 13 32337137 51345 G GT . . ALLELEID=66013;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337141dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4096470|Breast_Cancer_Information_Core__(BRCA2):3014&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359347 13 32337137 51344 GT G . . ALLELEID=66012;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337141del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359347 13 32337141 51343 T C . . AF_ESP=0.00377;AF_EXAC=0.00089;AF_TGP=0.00200;ALLELEID=66011;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337141T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CD032735|Illumina_Laboratory_Services,Illumina:672929|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:87907;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2227943 13 32337148 184175 A G . . ALLELEID=183740;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337148A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201315 13 32337149 51347 GAC G . . ALLELEID=66015;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337151CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4217654|Breast_Cancer_Information_Core__(BRCA2):3026&base_change%3Ddel_CA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359348 13 32337152 51348 AC A . . ALLELEID=66016;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337153del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3026&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359349 13 32337158 37801 G C . . ALLELEID=46357;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337158G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2632640|Illumina_Laboratory_Services,Illumina:1641752|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2340370;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897716 13 32337158 51350 GATAA G . . ALLELEID=66018;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337160_32337163del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3033&base_change%3Ddel_TAAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359350 13 32337160 427457 T C . . AF_EXAC=0.00001;ALLELEID=416278;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337160T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749138071 13 32337160 91787 TA T . . ALLELEID=97264;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337163del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1073661;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122753 13 32337160 9322 TAAAC T . . ALLELEID=24361;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337163_32337166del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3034&base_change%3Ddel_AAAC|Invitae:95312|Breast_Cancer_Information_Core__(BRCA2):3036&base_change%3Ddel_ACAA|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2436329|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:111500|OMIM_Allelic_Variant:600185.0016|OMIM_Allelic_Variant:600185.0006;GENEINFO=BRCA2:675;ORIGIN=3;RS=80359351 13 32337163 51352 ACAAG A . . ALLELEID=66020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337167_32337170del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3040&base_change%3Ddel_GCAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359354 13 32337164 51351 CAA C . . ALLELEID=66019;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337165_32337166del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3038&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359353 13 32337172 186294 C T . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=183742;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337172C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2289078|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2687409;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367921107 13 32337173 37804 C T . . ALLELEID=46360;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337173C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854876;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358532 13 32337175 427526 A G . . AF_EXAC=0.00001;ALLELEID=416279;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32337175A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:149288;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771061558 13 32337178 232647 G A . . ALLELEID=234715;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337178G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659897 13 32337180 51354 CAATT C . . ALLELEID=66022;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337183_32337186del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912769;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507643 13 32337184 231432 T TA . . ALLELEID=234716;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337190dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359356 13 32337184 55792 TA T . . ALLELEID=70448;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337190del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359356 13 32337184 55791 TAA T . . ALLELEID=70447;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337189_32337190del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3062&base_change%3Ddel_AA|Invitae:7402568;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359356 13 32337185 51355 A T . . ALLELEID=66023;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32337185A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288580;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358533 13 32337187 548340 A ATT . . ALLELEID=538674;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337187_32337188insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282889 13 32337188 125995 A ATT . . ALLELEID=131533;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337188_32337189insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3061&base_change%3Dins_TT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359355 13 32337189 51356 AAG A . . ALLELEID=66024;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32337191_32337192del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3064&base_change%3Ddel_GA|Invitae:1033270;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359357 13 32337190 51357 AG A . . ALLELEID=66025;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337191del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3064&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359358 13 32337192 96784 AT A . . ALLELEID=102687;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337195del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825300 13 32337195 125997 T TG . . ALLELEID=131535;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337197dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3070&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359359 13 32337197 51359 GT G . . ALLELEID=66027;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337200del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912772;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507644 13 32337202 266723 T A . . ALLELEID=261158;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337202T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040449 13 32337208 427367 T G . . ALLELEID=416280;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337208T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692102 13 32337212 266724 GA G . . ALLELEID=261159;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337213del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040450 13 32337215 438964 G T . . ALLELEID=432784;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337215G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555282911 13 32337217 232907 G A . . AF_EXAC=0.00001;ALLELEID=234719;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337217G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752137159 13 32337220 51363 CA C . . ALLELEID=66031;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337225del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2429259;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507645 13 32337234 266725 AG A . . ALLELEID=261160;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337235del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040451 13 32337236 51365 C T . . ALLELEID=66033;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337236C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358538 13 32337238 51366 G A . . AF_ESP=0.00131;AF_EXAC=0.00079;AF_TGP=0.00020;ALLELEID=66034;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337238G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722164|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:145325|Illumina_Laboratory_Services,Illumina:449687;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571655 13 32337241 186253 T C . . ALLELEID=183744;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32337241T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202807 13 32337250 266726 G GA . . ALLELEID=261161;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337251dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040452 13 32337251 125998 ACT A . . ALLELEID=131536;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337252CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3127&base_change%3Ddel_CT|Invitae:4380864;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359361 13 32337253 185688 T C . . ALLELEID=183745;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337253T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202376 13 32337254 427390 C T . . ALLELEID=416281;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337254C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358539 13 32337260 254509 C T . . ALLELEID=248943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337260C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038080 13 32337267 51369 T G . . ALLELEID=66037;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337267T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507647 13 32337273 141199 C A . . ALLELEID=150913;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337273C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507296 13 32337274 51370 G A . . AF_ESP=0.00023;AF_EXAC=0.00045;AF_TGP=0.00040;ALLELEID=66038;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337274G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2199152|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459594|Illumina_Laboratory_Services,Illumina:776737;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45525041 13 32337283 125999 CTTGAATATAGA C . . ALLELEID=131537;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337285_32337295del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3158&base_change%3Ddel_11;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359364 13 32337284 233605 T C . . ALLELEID=234721;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337284T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660517 13 32337299 266727 AT A . . ALLELEID=261162;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337300del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040453 13 32337304 229655 A G . . AF_EXAC=0.00001;ALLELEID=234724;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337304A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762378787 13 32337305 51378 G GA . . ALLELEID=66046;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337312dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3185&base_change%3Dins_A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830405|Invitae:871938;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359365 13 32337305 51376 G T . . ALLELEID=66044;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337305G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507648 13 32337305 254510 GA G . . ALLELEID=248944;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337312del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912782;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359365 13 32337305 266728 GAAAA G . . ALLELEID=261163;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337309_32337312del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359365 13 32337311 548402 A AG . . ALLELEID=538675;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337311_32337312insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282974 13 32337312 37811 A AG . . ALLELEID=46367;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337312_32337313insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3185&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555282969 13 32337313 266729 T TA . . ALLELEID=261164;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337315dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040455 13 32337315 51379 A T . . AF_ESP=0.00369;AF_EXAC=0.00087;AF_TGP=0.00200;ALLELEID=66047;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337315A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:672931|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:87908;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2227944 13 32337315 254511 AT A . . ALLELEID=248945;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337316del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038082 13 32337324 266730 TGAACAAATGGGCA T . . ALLELEID=261165;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337326_32337338del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:675963;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040456 13 32337326 41545 A G . . AF_ESP=0.03725;AF_EXAC=0.05341;AF_TGP=0.08007;ALLELEID=49984;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337326A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:61003|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459607|HGMD:CM1210130|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:15709;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1799944 13 32337328 409433 CA C . . ALLELEID=399702;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337331del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1064969;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502391 13 32337333 126001 G A . . ALLELEID=131539;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337333G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358543 13 32337334 37812 G A . . ALLELEID=46368;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337334G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358544 13 32337338 266731 G T . . ALLELEID=261166;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337338G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040457 13 32337342 51381 T G . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=66049;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337342T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2424756|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2420146|Illumina_Laboratory_Services,Illumina:684860;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358545 13 32337343 427479 C G . . AF_EXAC=0.00001;ALLELEID=416282;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337343C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758336001 13 32337345 51383 T A . . ALLELEID=66051;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337345T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507649 13 32337345 266732 T G . . ALLELEID=261167;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337345T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507649 13 32337349 384189 T G . . AF_EXAC=0.00002;ALLELEID=373679;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337349T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756171672 13 32337355 135795 T A . . ALLELEID=139507;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337355T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780649 13 32337358 187256 A T . . ALLELEID=183747;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337358A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203591 13 32337361 37814 TCA T . . ALLELEID=46370;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337362CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:356146;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507300 13 32337364 182311 CA C . . ALLELEID=180584;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337365del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881604 13 32337366 51386 G GTT . . ALLELEID=66054;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337369_32337370dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4551740;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507650 13 32337371 254512 G T . . ALLELEID=248946;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337371G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038083 13 32337372 51387 GA G . . ALLELEID=66055;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337373del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507651 13 32337385 427370 A G . . ALLELEID=416283;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337385A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692105 13 32337386 420549 AC A . . ALLELEID=408874;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337387del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794550 13 32337390 548331 CTTCA C . . ALLELEID=538676;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337391_32337394del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283011 13 32337398 51388 A T . . ALLELEID=66056;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337398A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507652 13 32337401 254513 G T . . AF_EXAC=0.00001;ALLELEID=248947;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337401G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=748508287 13 32337405 51389 TC T . . ALLELEID=66057;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337406del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3279&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359367 13 32337406 184600 C T . . ALLELEID=183748;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32337406C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201561 13 32337409 136558 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=140261;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337409G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2778905;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368404583 13 32337409 234872 GCT G . . ALLELEID=231866;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337410CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:11867231;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876661270 13 32337410 37817 C G . . AF_ESP=0.00015;AF_EXAC=0.00017;AF_TGP=0.00020;ALLELEID=46373;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337410C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:213642;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55638633 13 32337414 420963 CTG C . . ALLELEID=408875;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337415_32337416del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794821 13 32337416 126003 GAACAT G . . ALLELEID=131541;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337417AACAT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3295&base_change%3Ddel_AACAT|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_222;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359369 13 32337420 266733 A AT . . ALLELEID=261168;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337421dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5892404;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040458 13 32337421 51391 T TA . . ALLELEID=66059;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337423dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3295&base_change%3Dins_A|OMIM_Allelic_Variant:600185.0011;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359368 13 32337421 266734 TA T . . ALLELEID=261169;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337423del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359368 13 32337422 433194 AACAT A . . ALLELEID=426757;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337423_32337426del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283031 13 32337423 230420 AC A . . ALLELEID=234730;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337424del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658555 13 32337428 37818 A T . . ALLELEID=46374;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337428A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358550 13 32337430 409575 GA G . . ALLELEID=399219;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337432del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502475 13 32337430 89046 GA TT . . ALLELEID=94589;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337430_32337431delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587779362 13 32337431 51395 A T . . ALLELEID=66063;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32337431A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288658;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358552 13 32337433 383552 G A . . AF_EXAC=0.00002;ALLELEID=373418;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32337433G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762692063 13 32337448 431300 CA C . . ALLELEID=424734;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337451del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401898 13 32337451 51399 AGATATTGAAGAACA T . . ALLELEID=66067;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337451_32337465delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507655 13 32337454 266735 T TA . . ALLELEID=261170;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337455dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040460 13 32337458 51400 G T . . ALLELEID=66068;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337458G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288682|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2420154|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:126358;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358556 13 32337461 409521 G T . . ALLELEID=399952;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337461G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1060502449 13 32337464 37819 C T . . ALLELEID=46375;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32337464C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3337&base_change%3DC_to_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288688;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=80358557 13 32337466 186456 A G . . ALLELEID=183751;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32337466A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202967 13 32337475 233064 T A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=234735;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337475T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150534625 13 32337498 51405 TA T . . ALLELEID=66073;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337501del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3374&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359370 13 32337505 266736 CTTG ATTTT . . ALLELEID=261171;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337505_32337508delinsATTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040461 13 32337511 209216 A C . . ALLELEID=205908;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337511A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2849990;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=797044975 13 32337512 37824 TTAGA T . . ALLELEID=46380;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337515_32337518del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912796|Breast_Cancer_Information_Core__(BRCA2):3388&base_change%3Ddel_GATA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359371 13 32337512 548358 TTAGATAATCAA AG . . ALLELEID=538677;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337512_32337523delinsAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=1555283070 13 32337513 37820 T G . . ALLELEID=46376;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337513T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288700|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2848049;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=41293477 13 32337521 51412 C T . . ALLELEID=66080;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337521C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288712;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=79728106 13 32337521 266737 CA C . . ALLELEID=261172;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337525del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=756083696 13 32337521 51413 CAAAA C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=66081;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337522_32337525del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3395&base_change%3Ddel_AAAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359372 13 32337521 37826 CAAAAG C . . ALLELEID=46382;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337525_32337529del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3398&base_change%3Ddel_AGAAA|Invitae:20662;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359373 13 32337524 266738 AAG A . . ALLELEID=261173;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337526_32337527del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040463 13 32337527 182196 A T . . ALLELEID=180588;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337527A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=730881521 13 32337529 254514 AC A . . ALLELEID=248948;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337530del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038084 13 32337530 141799 CTG C . . ALLELEID=151513;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337531_32337532del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782022 13 32337535 187185 C T . . ALLELEID=183752;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337535C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203536 13 32337535 37827 CA C . . ALLELEID=46383;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337537del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507304 13 32337540 51418 CTCAG C . . ALLELEID=66086;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32337544_32337547del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_219|Breast_Cancer_Information_Core__(BRCA2):3417&base_change%3Ddel_GTCA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359374 13 32337542 228324 C T . . ALLELEID=230443;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337542C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876657678 13 32337546 409533 C A . . ALLELEID=399714;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337546C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=864622609 13 32337546 220624 C G . . ALLELEID=222297;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337546C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=864622609 13 32337546 51419 CAATT C . . ALLELEID=66087;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32337550_32337553del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3420&base_change%3Ddel_AATT|Breast_Cancer_Information_Core__(BRCA2):3423&base_change%3Ddel_TAAT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359375 13 32337548 51420 AT A . . ALLELEID=66088;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337550del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507657 13 32337553 51421 TA T . . ALLELEID=66089;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32337554del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3427&base_change%3Ddel_A|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_200;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359377 13 32337555 220844 CT C . . ALLELEID=222298;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337556del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=864622672 13 32337556 51422 TG T . . ALLELEID=66090;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337557del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3430&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=397507658 13 32337557 548395 G GTATAATTGCAGTCAATTAA . . ALLELEID=538678;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337558_32337560TA[2]ATTGCAGTCAATTAATAT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283098 13 32337565 231344 A G . . ALLELEID=234738;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337565A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659104 13 32337568 215602 T C . . ALLELEID=213038;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337568T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224304 13 32337572 266739 C T . . ALLELEID=261174;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337572C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040464 13 32337574 230820 G A . . AF_EXAC=0.00001;ALLELEID=234739;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337574G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=753935319 13 32337575 51426 AGTAGT A . . ALLELEID=66094;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32337576GTAGT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507659 13 32337576 431303 GTAGT G . . ALLELEID=424736;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337577_32337580del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401899 13 32337580 184180 T C . . AF_EXAC=0.00003;ALLELEID=183754;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337580T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2341907|Illumina_Laboratory_Services,Illumina:1647312;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779228375 13 32337582 51427 TAG T . . ALLELEID=66095;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337583_32337584del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3456&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359378 13 32337587 51429 GT G . . ALLELEID=66097;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337590del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507660 13 32337598 266742 T TA . . ALLELEID=261177;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337603dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040466 13 32337598 266741 TA T . . ALLELEID=261176;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337603del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040466 13 32337599 266740 A T . . ALLELEID=261175;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337599A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040465 13 32337604 231216 T C . . ALLELEID=234740;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337604T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659029 13 32337607 427379 T C . . ALLELEID=416284;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32337607T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060502412 13 32337608 230529 CAT C . . ALLELEID=234741;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337610TA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658618 13 32337614 266743 A AC . . ALLELEID=261178;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337618dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359379 13 32337614 51434 ACC A . . ALLELEID=66102;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337617_32337618del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3490&base_change%3Ddel_CC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359379 13 32337618 37830 C CT . . AF_EXAC=0.00001;ALLELEID=46386;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32337619dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2451226|Invitae:384394|Breast_Cancer_Information_Core__(BRCA2):3492&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359380 13 32337618 51436 C CTT . . AF_EXAC=0.00001;ALLELEID=66104;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337619_32337620insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359380 13 32337619 51435 T C . . AF_ESP=0.00756;AF_EXAC=0.00238;AF_TGP=0.00679;ALLELEID=66103;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337619T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28916|Illumina_Laboratory_Services,Illumina:797558|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459637;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=36060526 13 32337620 51438 C T . . ALLELEID=66106;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337620C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358573 13 32337620 51439 CAG C . . ALLELEID=66107;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337622_32337623del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507661 13 32337623 51440 AT A . . ALLELEID=66108;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337624del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3497&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359381 13 32337625 51442 GTTAT G . . ALLELEID=66110;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337628_32337631del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3501&base_change%3Ddel_ATTT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359382 13 32337627 422129 T A . . ALLELEID=408890;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337627T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064795577 13 32337628 51443 AT A . . ALLELEID=66111;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337632del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3505&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174833 13 32337635 162102 A T . . ALLELEID=171819;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337635A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=VariO:0043;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=690016539 13 32337637 266744 GC G . . ALLELEID=261179;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337638del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040468 13 32337638 51444 C T . . ALLELEID=66112;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337638C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507662 13 32337642 162103 A AT . . ALLELEID=171820;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337646dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=VariO:0043;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=690016540 13 32337646 254515 TA T . . ALLELEID=248949;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337648del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=690016541 13 32337648 254516 AT A . . ALLELEID=248950;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337650del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3522&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359383 13 32337651 142309 C A . . ALLELEID=152023;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337651C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507663 13 32337651 51446 C G . . ALLELEID=66114;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337651C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507663 13 32337655 266745 C CCATAATTTAACACCTAGCCAAAAGGCAGAAATTA . . ALLELEID=261180;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337658_32337691dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040469 13 32337659 37833 A T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=46389;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337659A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2635781;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897719 13 32337660 440426 A ATT . . ALLELEID=434060;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337662_32337663dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283160 13 32337660 433774 AT A . . ALLELEID=427369;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337663del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283160 13 32337663 37834 T G . . ALLELEID=46390;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337663T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_221;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507305 13 32337664 187760 A G . . ALLELEID=183756;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337664A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203980 13 32337674 51449 C T . . ALLELEID=66117;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337674C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358578 13 32337674 225716 CA C . . ALLELEID=227532;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337678del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320782 13 32337677 430599 A T . . ALLELEID=423247;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337677A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283169 13 32337680 91797 GC G . . ALLELEID=97274;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337681del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122762 13 32337682 219602 A G . . ALLELEID=222299;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337682A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622176 13 32337683 433776 G T . . ALLELEID=427371;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337683G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283173 13 32337685 37836 A G . . ALLELEID=46392;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337685A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369294255 13 32337688 236848 T A . . ALLELEID=241661;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337688T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853566 13 32337689 266746 AC A . . ALLELEID=261181;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337690del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040470 13 32337690 91798 CA C . . ALLELEID=97275;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337691del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122763 13 32337690 266747 CAG C . . ALLELEID=261182;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337692_32337693del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040471 13 32337695 548369 CT C . . ALLELEID=538679;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337698del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283184 13 32337698 431304 TC T . . ALLELEID=424737;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337699del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401900 13 32337699 548364 C CTA . . ALLELEID=538680;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337700_32337701dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283186 13 32337700 266748 TAC T . . ALLELEID=261183;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337701_32337702del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040472 13 32337703 236849 TA T . . ALLELEID=241662;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337704del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853567 13 32337705 141015 TA T . . ALLELEID=150729;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337706del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781436 13 32337705 51451 TATTAG T . . ALLELEID=66119;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337707_32337711del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507664 13 32337706 230149 A T . . ALLELEID=234746;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337706A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881522 13 32337707 186927 TTAG T . . ALLELEID=183757;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337708_32337710del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786203329 13 32337708 51452 TA T . . ALLELEID=66120;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337709del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3582&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359384 13 32337709 186983 A G . . ALLELEID=183758;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337709A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203378 13 32337712 142722 AG A . . ALLELEID=152436;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337713del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782672 13 32337717 126007 C A . . ALLELEID=131545;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337717C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358579 13 32337717 51453 C G . . ALLELEID=66121;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337717C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358579 13 32337718 185422 AG A . . ALLELEID=183759;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337720del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912834;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202160 13 32337720 51454 GAA G . . ALLELEID=66122;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337721_32337722del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507665 13 32337731 438970 G T . . ALLELEID=432789;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337731G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2839158;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283206 13 32337733 51456 AT A . . ALLELEID=66124;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337736del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3609&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507666 13 32337739 230494 T C . . ALLELEID=234747;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337739T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658596 13 32337740 96789 C CA . . ALLELEID=102692;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337741dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1211320;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825305 13 32337742 266749 GT G . . ALLELEID=261184;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337745del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040473 13 32337747 230170 GA G . . ALLELEID=234748;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337751del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854967|Invitae:4625425;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658427 13 32337748 427399 A G . . ALLELEID=416285;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337748A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692123 13 32337751 126010 A G . . AF_ESP=0.27984;AF_EXAC=0.29449;AF_TGP=0.26677;ALLELEID=131548;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337751A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14188|Illumina_Laboratory_Services,Illumina:12093|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459649|Breast_Cancer_Information_Core__(BRCA2):3624&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=3;RS=1801406 13 32337760 231604 C A . . ALLELEID=234749;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337760C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876659258 13 32337761 266750 ATATTGCAGAAGAG A . . ALLELEID=261185;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337764_32337776del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040474 13 32337765 141573 T TG . . ALLELEID=151287;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337766dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781850 13 32337767 142648 C T . . ALLELEID=152362;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337767C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782613 13 32337772 135796 G A . . AF_ESP=0.00008;AF_EXAC=0.00011;ALLELEID=139508;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided;CLNHGVS=NC_000013.11:g.32337772G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:126440;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145625991 13 32337775 51461 T C . . AF_EXAC=0.00025;AF_TGP=0.00140;ALLELEID=66129;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337775T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:181674;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=118093942 13 32337776 252426 AC A . . ALLELEID=246792;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337777del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255311 13 32337781 427486 T C . . AF_EXAC=0.00001;ALLELEID=416286;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337781T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=760681272 13 32337787 427444 G C . . AF_EXAC=0.00001;ALLELEID=416287;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337787G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775407297 13 32337791 441504 G T . . ALLELEID=434988;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337791G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1237049560 13 32337797 51464 C T . . ALLELEID=66132;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337797C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507667 13 32337803 548437 A AAG . . ALLELEID=538681;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337803_32337804insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283245 13 32337804 419825 C CT . . ALLELEID=408892;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337805dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1978478;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507668 13 32337804 266751 CTA C . . ALLELEID=261186;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337806_32337807del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040475 13 32337806 51468 A AT . . ALLELEID=66136;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337807dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507669 13 32337807 51469 TC T . . ALLELEID=66137;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337808del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507670 13 32337808 254517 C CT . . ALLELEID=248951;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337810dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3681&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359385 13 32337808 433777 CTT C . . ALLELEID=427372;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337809_32337810del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283251 13 32337810 229781 T A . . ALLELEID=234752;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337810T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358593 13 32337810 51470 T G . . AF_EXAC=0.00001;ALLELEID=66138;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337810T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358593 13 32337810 126014 TA T . . ALLELEID=131552;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337813del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3686&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359386 13 32337817 186024 C G . . ALLELEID=183763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337817C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=4986856 13 32337817 184176 C T . . AF_ESP=0.00015;ALLELEID=183764;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337817C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838668;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=4986856 13 32337819 51472 CTT C . . ALLELEID=66140;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337820_32337821del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1945804;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507671 13 32337824 51473 G T . . ALLELEID=66141;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337824G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358595 13 32337832 96791 C A . . ALLELEID=102694;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337832C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=431825307 13 32337832 236851 C CAG . . ALLELEID=241663;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337834GA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853569 13 32337833 409476 AGAG TGAGGA . . ALLELEID=399979;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337833_32337836delinsTGAGGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064792961 13 32337835 433778 AGATGCTGATCT A . . ALLELEID=427373;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337836_32337846del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283262 13 32337841 51474 TG T . . ALLELEID=66142;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337842del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507672 13 32337843 266752 AT A . . ALLELEID=261187;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337844del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040476 13 32337845 266753 C CT . . ALLELEID=261188;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337847dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040477 13 32337850 187721 T C . . AF_EXAC=0.00011;ALLELEID=183765;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337850T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2468179|Illumina_Laboratory_Services,Illumina:563124;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776655838 13 32337851 266754 GT G . . ALLELEID=261189;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337852del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852865;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040478 13 32337853 51478 CAT C . . ALLELEID=66146;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337855_32337856del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3728&base_change%3Ddel_TA|Invitae:1524159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359387 13 32337855 266755 T TA . . ALLELEID=261190;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337857dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040479 13 32337870 409595 C A . . ALLELEID=399986;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337870C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358600 13 32337870 41546 C T . . AF_ESP=0.00038;AF_EXAC=0.00138;AF_TGP=0.00080;ALLELEID=49985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337870C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722333|Illumina_Laboratory_Services,Illumina:831410|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148479;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358600 13 32337871 51481 G A . . AF_ESP=0.00277;AF_EXAC=0.00296;AF_TGP=0.00160;ALLELEID=66149;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337871G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:82620|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459661|Breast_Cancer_Information_Core__(BRCA2):3744&base_change%3DG_to_A|Illumina_Laboratory_Services,Illumina:255120;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1799952 13 32337871 234008 G T . . ALLELEID=234753;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337871G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1799952 13 32337878 266756 C T . . ALLELEID=261191;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337878C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040480 13 32337880 230857 G A . . ALLELEID=234754;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337880G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658812 13 32337882 266757 TAGAC T . . ALLELEID=261192;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337885_32337888del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912855;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040481 13 32337885 51482 ACAGC A . . ALLELEID=66150;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337886_32337889del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507673 13 32337898 266758 AT A . . ALLELEID=261193;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337901del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359388 13 32337898 37846 ATT A . . ALLELEID=46402;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MeSH:D030342,MedGen:C0950123|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Inborn_genetic_diseases|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32337900_32337901del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3773&base_change%3Ddel_TT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:175398|Invitae:768114;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359388 13 32337907 51485 TAC T . . ALLELEID=66153;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337909_32337910del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3782&base_change%3Ddel_CA|Invitae:4563149;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359389 13 32337908 51486 ACAGTTGAAAT A . . ALLELEID=66154;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337909_32337918del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507675 13 32337909 51487 CAGTTGAAATT C . . ALLELEID=66155;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337911_32337920del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507676 13 32337910 232193 A G . . ALLELEID=234755;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337910A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659609 13 32337918 266759 TTAAA T . . ALLELEID=261194;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337919_32337922del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040483 13 32337923 51488 C T . . AF_EXAC=0.00011;ALLELEID=66156;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337923C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA2_c.3568C>T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2487245;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358604 13 32337923 51489 CG C . . ALLELEID=66157;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337925del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3798&base_change%3Ddel_G|Invitae:4912859;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359390 13 32337930 51490 T G . . AF_EXAC=0.00013;ALLELEID=66158;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32337930T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2425110|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:40115;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358606 13 32337936 41548 G A . . AF_EXAC=0.00010;ALLELEID=49987;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32337936G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:678394;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897721 13 32337937 427515 C G . . AF_EXAC=0.00001;ALLELEID=416288;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337937C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746734303 13 32337943 254518 G GA . . ALLELEID=248952;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337948dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507677 13 32337943 51491 GA G . . ALLELEID=66159;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337948del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507677 13 32337948 266760 ATGAC A . . ALLELEID=261195;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337951_32337954del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040484 13 32337952 427386 C T . . AF_TGP=0.00020;ALLELEID=416289;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337952C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=192892005 13 32337952 51493 CTG C . . ALLELEID=66161;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337954_32337955del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3826&base_change%3Ddel_TG|Invitae:660816|Breast_Cancer_Information_Core__(BRCA2):3827&base_change%3Ddel_GT;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359391 13 32337953 254519 TG T . . ALLELEID=248953;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337954del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038089 13 32337955 186964 T C . . ALLELEID=183769;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337955T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203359 13 32337957 266761 AC A . . ALLELEID=261196;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337958del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040485 13 32337967 215603 T C . . ALLELEID=213039;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32337967T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224305 13 32337970 427469 T C . . AF_EXAC=0.00001;ALLELEID=416290;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337970T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769677997 13 32337985 186489 T C . . ALLELEID=183770;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32337985T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202991 13 32337986 266762 G T . . ALLELEID=261197;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32337986G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040486 13 32337988 232261 AAATG A . . ALLELEID=234757;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32337991_32337994del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:11708215;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659656 13 32337991 266763 TG T . . ALLELEID=261198;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040487 13 32337992 254520 GA G . . ALLELEID=248955;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337994del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3866&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359394 13 32337993 254521 AAGTGGGGTTTAGGG A . . ALLELEID=248954;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32337994_32338007del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038091 13 32337995 51497 G GT . . ALLELEID=66165;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32337996dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4584794;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507678 13 32337995 162105 GT G . . ALLELEID=171822;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32337996del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=VariO:0043;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=690016542 13 32338000 51498 GT TAAAAAG . . ALLELEID=66166;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338000_32338001delinsTAAAAAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507679 13 32338000 418080 GTT TA . . ALLELEID=408893;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338000_32338002delinsTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793064 13 32338003 219514 TA T . . ALLELEID=222302;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338004del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=864622134 13 32338012 230975 T C . . ALLELEID=234758;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338012T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658879 13 32338021 231334 T G . . AF_EXAC=0.00002;ALLELEID=234759;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338021T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=765890622 13 32338024 236854 T C . . ALLELEID=241666;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338024T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853572 13 32338027 135797 C T . . ALLELEID=139509;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338027C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:201223|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2401111;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780650 13 32338030 51502 A G . . AF_EXAC=0.00001;ALLELEID=66170;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338030A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842467;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174835 13 32338034 51504 CTG C . . ALLELEID=66172;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338035_32338036del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3908&base_change%3Ddel_TG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359395 13 32338034 51505 CTGAA C . . ALLELEID=66173;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338037_32338040del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5265651|Breast_Cancer_Information_Core__(BRCA2):3910&base_change%3Ddel_AATG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359396 13 32338035 254522 TG T . . ALLELEID=248956;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338036del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038092 13 32338036 254783 G A . . AF_EXAC=0.00001;ALLELEID=254847;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338036G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758007548 13 32338036 230858 G C . . ALLELEID=234760;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338036G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758007548 13 32338037 37852 A G . . AF_EXAC=0.00005;ALLELEID=46408;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338037A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897722 13 32338038 433780 A GG . . ALLELEID=427375;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338038delinsGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=1555283361 13 32338038 266765 ATG A . . ALLELEID=261199;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338040_32338041del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040489 13 32338039 51506 TG T . . ALLELEID=66174;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338040del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3913&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359397 13 32338040 236855 GT G . . ALLELEID=241667;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338043del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853573 13 32338042 224523 TTC T . . ALLELEID=226352;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338044_32338045del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869312759 13 32338043 37853 TC T . . ALLELEID=46409;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338044del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:202597|Breast_Cancer_Information_Core__(BRCA2):3917&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359398 13 32338048 220558 T C . . AF_EXAC=0.00001;ALLELEID=222303;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338048T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751232859 13 32338058 91805 C CA . . ALLELEID=97282;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32338063dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4237884;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=34575057 13 32338064 441458 GC G . . ALLELEID=434993;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338065del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283371 13 32338066 184343 T C . . AF_EXAC=0.00001;ALLELEID=183774;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338066T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=745588537 13 32338066 427415 T G . . ALLELEID=416291;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338066T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=745588537 13 32338069 231591 G A . . AF_EXAC=0.00001;ALLELEID=234763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338069G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832366;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780000105 13 32338069 37855 GA G . . ALLELEID=46411;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32338072del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3945&base_change%3Ddel_A|Invitae:1032646;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359401 13 32338072 385774 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=373436;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338072A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141196976 13 32338073 440430 CTG C . . ALLELEID=434061;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338075_32338076del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5892443;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283373 13 32338073 254523 CTGTT C . . ALLELEID=248957;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338075_32338078del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038093 13 32338075 386534 G A . . AF_EXAC=0.00001;ALLELEID=373689;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338075G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773240495 13 32338075 266767 GT G . . ALLELEID=261200;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338078del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5892444;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040491 13 32338078 266768 T TA . . ALLELEID=261201;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338079dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040492 13 32338078 51511 TAG AT . . ALLELEID=66179;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338078_32338080delinsAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507682 13 32338082 266769 G GA . . ALLELEID=261202;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338083dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040493 13 32338090 236856 G A . . ALLELEID=241668;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338090G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853574 13 32338090 51512 GA G . . ALLELEID=66180;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338092del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):3965&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359402 13 32338093 266770 TA T . . ALLELEID=261203;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338094del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_220;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040494 13 32338094 266771 AT A . . ALLELEID=261204;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338096del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040495 13 32338096 37856 TAGTG T . . ALLELEID=46412;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338099_32338102del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2251941|Invitae:279745|Breast_Cancer_Information_Core__(BRCA2):3972&base_change%3Ddel_TGAG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359403 13 32338103 51516 G GA . . ALLELEID=66184;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338106dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2774238;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=5;RS=397507683 13 32338103 51514 G T . . ALLELEID=66182;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338103G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358615 13 32338117 184867 G A . . ALLELEID=183776;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338117G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=777028631 13 32338125 51521 CA C . . ALLELEID=66189;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338127del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507684 13 32338126 184757 A G . . AF_EXAC=0.00003;ALLELEID=183777;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338126A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2848307;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759855937 13 32338126 51522 AAT A . . ALLELEID=66190;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338128_32338129del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507685 13 32338128 254524 TAA T . . ALLELEID=248958;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338129_32338130del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038094 13 32338131 266772 G GT . . ALLELEID=261205;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338134dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507686 13 32338131 96798 GT G . . ALLELEID=102701;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338134del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507686 13 32338131 51523 GTT G . . ALLELEID=66191;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338133_32338134del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912877;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507686 13 32338140 51525 C G . . AF_EXAC=0.00001;ALLELEID=66193;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN239275|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|BRCA2-Related_Disorders|not_provided;CLNHGVS=NC_000013.11:g.32338140C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852617|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18589_605;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358620 13 32338144 231479 T C . . ALLELEID=234766;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338144T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659185 13 32338148 209217 T A . . ALLELEID=205909;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32338148T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=797044976 13 32338161 254525 TTG T . . ALLELEID=248959;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338163_32338164del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038095 13 32338162 126022 T C . . AF_ESP=0.19111;AF_EXAC=0.18985;AF_TGP=0.16813;ALLELEID=131560;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338162T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4035&base_change%3DT_to_C|Illumina_Laboratory_Services,Illumina:12113|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14189|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459682;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=543304 13 32338162 126023 T G . . ALLELEID=131561;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338162T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4035&base_change%3DT_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=543304 13 32338167 51529 C A . . ALLELEID=66197;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338167C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358623 13 32338167 266773 C G . . ALLELEID=261206;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338167C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358623 13 32338168 548435 A AC . . ALLELEID=538682;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338168_32338169insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283406 13 32338169 266774 A AC . . ALLELEID=261207;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338169_32338170insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040497 13 32338171 266775 G GT . . ALLELEID=261208;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338174dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040498 13 32338174 182327 TAAGA T . . ALLELEID=180597;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338175_32338178del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=730881620 13 32338175 51532 AAGAT A . . ALLELEID=66200;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338179_32338182del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507688 13 32338181 51533 GA G . . ALLELEID=66201;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338185del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507689 13 32338181 266776 GAA G . . ALLELEID=261209;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338184_32338185del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507689 13 32338187 224445 CAT C . . ALLELEID=226169;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338189_32338190del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912885;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886037803 13 32338189 187186 T TA . . ALLELEID=183778;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338191dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507690 13 32338189 51535 TA T . . ALLELEID=66203;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338191del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507690 13 32338191 51536 AT A . . ALLELEID=66204;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338192del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4065&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359404 13 32338194 51537 A T . . AF_EXAC=0.00001;ALLELEID=66205;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338194A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56337919 13 32338195 184196 T C . . ALLELEID=183779;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338195T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201327 13 32338200 37859 CTG C . . ALLELEID=46415;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Breast_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338202_32338203del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_431|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2269717|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2437522|Breast_Cancer_Information_Core__(BRCA2):4075&base_change%3Ddel_GT|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_16999_605|Invitae:70167;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359405 13 32338201 51539 TG T . . ALLELEID=66207;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338202del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507691 13 32338201 51541 TGTAA T . . ALLELEID=66209;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338204_32338207del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507692 13 32338202 37860 G GT . . ALLELEID=46416;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338203dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:12019926;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507317 13 32338204 254526 A AT . . ALLELEID=248960;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338204_32338205insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038096 13 32338208 51546 G GA . . ALLELEID=66214;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338215dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4088&base_change%3Dins_A|Invitae:2891951|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840249;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359406 13 32338208 51545 GA G . . ALLELEID=66213;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Tumor_susceptibility_linked_to_germline_BAP1_mutations|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338215del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4082&base_change%3Ddel_A|Invitae:769431|Breast_Cancer_Information_Core__(BRCA2):4088&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359406 13 32338208 51543 GAA G . . ALLELEID=66211;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338214_32338215del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2312091|Breast_Cancer_Information_Core__(BRCA2):4087&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359406 13 32338208 254527 GAAAA G . . ALLELEID=248961;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338212_32338215del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359406 13 32338212 51544 AAAAT A . . ALLELEID=66212;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338215_32338218del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4088&base_change%3Ddel_ATAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359410 13 32338215 266777 ATAAT A . . ALLELEID=261210;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338216_32338219del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040500 13 32338216 51548 T TA . . ALLELEID=66216;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338218dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507693 13 32338216 37862 TAATA T . . ALLELEID=46418;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338220_32338223del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4093&base_change%3Ddel_4|Invitae:1085286;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359412 13 32338217 254528 AAT A . . ALLELEID=248962;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338219_32338220del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4743412;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038098 13 32338219 266779 T TA . . ALLELEID=261212;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338222dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507694 13 32338219 51549 TAA T . . ALLELEID=66217;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338221_32338222del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507694 13 32338220 441397 A AAAT . . ALLELEID=434995;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338221_32338223dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843602|Invitae:2890367;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283442 13 32338220 266778 AAATG A . . ALLELEID=261211;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338221_32338224del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040501 13 32338224 37863 G A . . AF_ESP=0.00304;AF_EXAC=0.00100;AF_TGP=0.00339;ALLELEID=46419;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338224G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:95247|Illumina_Laboratory_Services,Illumina:576654;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41293485 13 32338226 51550 C T . . AF_EXAC=0.00001;ALLELEID=66218;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338226C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358631 13 32338226 91809 CA C . . ALLELEID=97286;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338228del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1755505;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122772 13 32338229 136559 C T . . AF_EXAC=0.00001;ALLELEID=140262;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338229C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780867 13 32338234 421118 AT A . . ALLELEID=408897;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338236del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794921 13 32338235 184035 T C . . ALLELEID=183782;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338235T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201236 13 32338236 51551 T A . . ALLELEID=66219;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338236T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358632 13 32338236 266780 T G . . ALLELEID=261213;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338236T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288928;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358632 13 32338238 252424 C T . . ALLELEID=246794;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C3469522|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_cancer,_susceptibility_to|not_provided;CLNHGVS=NC_000013.11:g.32338238C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288934|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2656063;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=879255309 13 32338238 51552 CA C . . ALLELEID=66220;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338242del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3623680;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507695 13 32338240 232601 A G . . ALLELEID=234771;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338240A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659864 13 32338249 186508 T A . . ALLELEID=183783;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338249T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41293487 13 32338264 51559 C A . . ALLELEID=66227;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338264C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4137&base_change%3DC_to_A;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359786 13 32338265 51560 AC A . . ALLELEID=66228;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338266del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4139&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359415 13 32338266 51562 CT C . . ALLELEID=66230;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338270del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837292|Invitae:4595910;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507698 13 32338271 37866 G A . . AF_ESP=0.00023;AF_EXAC=0.00000;ALLELEID=46422;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338271G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358636 13 32338273 51564 TG T . . ALLELEID=66232;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338274del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4147&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359416 13 32338274 266781 GAAGAAATTACTGAAAATTACAA G . . ALLELEID=261214;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338275_32338296del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040503 13 32338277 37867 G T . . ALLELEID=46423;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32338277G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2422394|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288964|Genologica_Medica:GNL0041;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358638 13 32338282 236858 T C . . ALLELEID=241670;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338282T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853576 13 32338283 51565 AC A . . ALLELEID=66233;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338284del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507699 13 32338285 184832 T C . . ALLELEID=183784;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338285T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201722 13 32338288 51566 AAATTACAAGAGAAATACTG A . . ALLELEID=66234;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338291_32338309del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507700 13 32338291 231508 T C . . ALLELEID=234773;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338291T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659198 13 32338293 51570 AC A . . ALLELEID=66238;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32338294del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4167&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174838 13 32338294 51569 C A . . ALLELEID=66237;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338294C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358641 13 32338294 96801 C G . . ALLELEID=102704;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338294C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841554;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358641 13 32338297 383074 G A . . ALLELEID=375573;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338297G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1002791506 13 32338306 427497 T C . . AF_EXAC=0.00001;ALLELEID=416292;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338306T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767150281 13 32338309 254529 AAATG A . . ALLELEID=248963;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338312_32338315del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4184&base_change%3Ddel_ATGA|Invitae:6182979;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359417 13 32338311 266782 ATG A . . ALLELEID=261215;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338312_32338313del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040504 13 32338313 51573 G T . . ALLELEID=66241;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338313G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358644 13 32338321 126029 C T . . ALLELEID=131567;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338321C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4194&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358647 13 32338321 266783 CAAAT C . . ALLELEID=261216;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338323_32338326del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040505 13 32338322 51577 A T . . ALLELEID=66245;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338322A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842314;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358648 13 32338323 266784 AAT A . . ALLELEID=261217;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338325TA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040506 13 32338326 266785 ATACT A . . ALLELEID=261218;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338327_32338330del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040507 13 32338327 427389 T C . . ALLELEID=416293;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338327T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692119 13 32338329 51578 C CTGCT . . AF_EXAC=0.00001;ALLELEID=66246;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32338330_32338333dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_754|Invitae:669867;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397515636 13 32338333 266786 T TTTGC . . ALLELEID=261219;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338333_32338334insTTGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283488 13 32338339 233312 T C . . ALLELEID=234776;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338339T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660328 13 32338348 427455 T C . . AF_EXAC=0.00001;ALLELEID=416294;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338348T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840227;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754883505 13 32338354 91812 CTT C . . ALLELEID=97289;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338355_32338356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122775 13 32338356 51580 T A . . ALLELEID=66248;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338356T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358652 13 32338358 51581 G GA . . ALLELEID=66249;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338360dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912909;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507701 13 32338358 233112 G T . . AF_EXAC=0.00001;ALLELEID=234777;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32338358G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288988;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=747070579 13 32338361 126031 T TA . . ALLELEID=131569;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338361_32338362insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4234&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359419 13 32338361 548352 T TCATC . . ALLELEID=538683;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338361_32338362insCATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359419 13 32338362 236860 T TCATC . . ALLELEID=241672;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338362_32338363insCATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853577 13 32338363 126032 T TCATC . . ALLELEID=131570;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338363_32338364insCATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289000|Breast_Cancer_Information_Core__(BRCA2):4236&base_change%3Dins_CATC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359420 13 32338366 548428 T TGG . . ALLELEID=538684;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338367_32338368dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507321 13 32338366 37873 TG T . . ALLELEID=46429;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338368del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5853620;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507321 13 32338369 126033 C CGG . . ALLELEID=131571;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338369_32338370insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4242&base_change%3Dins_GG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174839 13 32338374 266787 A AT . . ALLELEID=261220;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338376dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507702 13 32338374 51582 AT A . . ALLELEID=66250;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338376del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507702 13 32338377 431307 C A . . ALLELEID=424738;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338377C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289006;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1135401901 13 32338378 51583 A C . . AF_EXAC=0.00001;ALLELEID=66251;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338378A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174840 13 32338385 266788 AATGAT C . . ALLELEID=261221;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338385_32338390delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040509 13 32338391 438976 AC A . . ALLELEID=432793;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338392del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1162394508 13 32338391 51584 ACT A . . AF_EXAC=0.00001;ALLELEID=66252;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32338392_32338393del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2363233|Breast_Cancer_Information_Core__(BRCA2):4265&base_change%3Ddel_CT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359421 13 32338394 254530 G GT . . ALLELEID=248964;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338397dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886037800 13 32338399 427490 T C . . AF_EXAC=0.00001;ALLELEID=416295;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338399T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770199777 13 32338401 51586 T C . . AF_EXAC=0.00001;ALLELEID=66254;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338401T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2533085;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358654 13 32338402 126036 T TC . . ALLELEID=131574;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338403dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4276&base_change%3Dins_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359422 13 32338402 51587 TCATA T . . ALLELEID=66255;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338403_32338406del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4276&base_change%3Ddel_CATA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359423 13 32338406 266789 A T . . ALLELEID=261222;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338406A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040510 13 32338411 37875 TGAAAC T . . ALLELEID=46431;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338413_32338417del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1077706;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507322 13 32338416 51588 C T . . AF_ESP=0.00023;AF_EXAC=0.00012;ALLELEID=66256;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338416C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_for_Genomic_Medicine_(IGM)_Clinical_Laboratory,Nationwide_Children's_Hospital:NCH_ACC:2241|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2406717;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358656 13 32338417 184439 G A . . AF_EXAC=0.00001;ALLELEID=183786;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338417G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841346;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=768735660 13 32338423 51589 G A . . AF_ESP=0.00315;AF_EXAC=0.00305;AF_TGP=0.00040;ALLELEID=66257;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338423G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459710|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-5|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:52259|Illumina_Laboratory_Services,Illumina:280202|Breast_Cancer_Information_Core__(BRCA2):4296&base_change%3DG_to_A|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA2_c.4068G>A|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_235;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897724 13 32338426 136560 A C . . AF_ESP=0.00077;AF_EXAC=0.00015;AF_TGP=0.00060;ALLELEID=140263;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338426A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140556653 13 32338430 51590 AC A . . ALLELEID=66258;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338431del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4304&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359424 13 32338439 96802 CA C . . ALLELEID=102705;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338440del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825315 13 32338441 427459 C T . . AF_EXAC=0.00001;ALLELEID=416296;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338441C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=760304057 13 32338444 51591 C T . . ALLELEID=66259;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338444C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4317&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359787 13 32338444 37877 CAT C . . ALLELEID=46433;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338445AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4320&base_change%3Ddel_AT|Invitae:3135882;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359426 13 32338445 51592 A C . . AF_ESP=0.00631;AF_EXAC=0.00172;AF_TGP=0.00439;ALLELEID=66260;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338445A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:747086|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:83964;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56248502 13 32338446 266790 T TA . . ALLELEID=261223;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338447dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658329 13 32338446 230007 T TAA . . ALLELEID=234780;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338447_32338448insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850274;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658329 13 32338449 37878 G A . . AF_EXAC=0.00001;ALLELEID=46434;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338449G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358657 13 32338449 548367 G GTCCA . . ALLELEID=538685;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338451_32338452insCATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283548 13 32338449 51594 GT G . . ALLELEID=66262;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338450del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507703 13 32338450 51593 T A . . ALLELEID=66261;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338450T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358658 13 32338452 51595 T TCATC . . ALLELEID=66263;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338452_32338453insCATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507704 13 32338453 51597 T TA . . ALLELEID=66265;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338456dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507705 13 32338453 266791 T TCATC . . ALLELEID=261224;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338453_32338454insCATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040511 13 32338453 51596 TA T . . ALLELEID=66264;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338456del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507705 13 32338456 185175 A G . . ALLELEID=183787;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338456A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854412;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201982 13 32338456 440456 AT A . . ALLELEID=434082;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338458del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283552 13 32338457 427507 T C . . AF_EXAC=0.00001;ALLELEID=416297;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338457T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759357549 13 32338465 427499 C T . . AF_EXAC=0.00001;ALLELEID=416298;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32338465C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758430181 13 32338466 182313 C CA . . ALLELEID=180600;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338467dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2849983|Invitae:2437483;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881606 13 32338466 51599 C T . . ALLELEID=66267;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289030|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2827650|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2313821;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358659 13 32338474 51600 GA G . . ALLELEID=66268;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338476del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507707 13 32338478 266792 GA G . . ALLELEID=261225;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338479del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040512 13 32338481 37880 GGAAA G . . ALLELEID=46436;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338482_32338485del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507323 13 32338482 51601 GA G . . ALLELEID=66269;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338485del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4358&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359428 13 32338485 51602 ACACT A . . ALLELEID=66270;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338488_32338491del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1093837|Breast_Cancer_Information_Core__(BRCA2):4361&base_change%3Ddel_CTCA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359430 13 32338486 126037 C CTGAGGA . . ALLELEID=131575;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338486_32338487insTGAGGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4359&base_change%3Dins_TGAGGA;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359429 13 32338489 441521 TC T . . ALLELEID=434998;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338490del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846805|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2562181;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283588 13 32338490 51603 C CA . . ALLELEID=66271;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338491dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912921;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507708 13 32338490 51604 CAGATT C . . ALLELEID=66272;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338492_32338496del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4365&base_change%3Ddel_GATTA|Invitae:4912922;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359431 13 32338492 230354 G A . . AF_EXAC=0.00002;ALLELEID=234782;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338492G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=768918982 13 32338493 51605 A ATT . . ALLELEID=66273;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338494_32338495dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912923|Breast_Cancer_Information_Core__(BRCA2):4366&base_change%3Dins_TT|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844676;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174842 13 32338496 37883 AAAG A . . ALLELEID=46439;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338498AGA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:533442|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:275707;GENEINFO=BRCA2:675;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=80359432 13 32338500 266793 AAGAT A . . ALLELEID=261226;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338501_32338504del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040513 13 32338502 224441 GAT G . . ALLELEID=226171;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338503_32338504del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886037799 13 32338503 51606 AT A . . ALLELEID=66274;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338506del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912925;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507710 13 32338506 37884 T A . . ALLELEID=46440;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338506T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507325 13 32338507 187258 G A . . ALLELEID=183790;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338507G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203593 13 32338509 254531 C A . . ALLELEID=248965;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338509C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038101 13 32338515 548397 T TGGAAG . . AF_EXAC=0.00001;ALLELEID=538686;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338515_32338516insGGAAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=765444423 13 32338516 254532 AACTTT A . . AF_EXAC=0.00001;ALLELEID=248966;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338517_32338521del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=750704702 13 32338518 266794 C CT . . ALLELEID=261227;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338524dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359433 13 32338518 37885 CT A . . ALLELEID=46441;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338518_32338519delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4391&base_change%3Ddel_CT_ins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174843 13 32338518 51608 CT C . . ALLELEID=66276;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338524del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4397&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359433 13 32338518 182314 CTT C . . ALLELEID=180601;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338523_32338524del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359433 13 32338524 51610 TG T . . ALLELEID=66278;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338526del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507711 13 32338524 236863 TGG T . . ALLELEID=241675;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338525_32338526del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853579 13 32338529 216853 GT G . . ALLELEID=213042;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338531del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=863224825 13 32338531 232764 T TG . . ALLELEID=234783;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338532dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912930;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659977 13 32338534 184549 G A . . AF_EXAC=0.00001;ALLELEID=183791;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32338534G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770531115 13 32338541 51612 CA C . . ALLELEID=66280;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338543del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912931|Breast_Cancer_Information_Core__(BRCA2):4416&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359434 13 32338542 37886 A G . . AF_ESP=0.00192;AF_EXAC=0.00050;AF_TGP=0.00200;ALLELEID=46442;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338542A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:37432|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-6;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55969723 13 32338543 427406 A G . . ALLELEID=416299;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338543A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692129 13 32338561 236864 T C . . ALLELEID=241676;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338561T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853580 13 32338564 427393 T A . . ALLELEID=416300;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338564T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692120 13 32338564 186940 TTCAAA T . . ALLELEID=183792;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338566_32338570del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:123891;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786203340 13 32338565 91815 TC T . . ALLELEID=97292;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338566del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122777 13 32338566 266795 C G . . ALLELEID=261228;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338566C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=41293489 13 32338570 51614 TAAAG T . . ALLELEID=66282;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338573_32338576del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4446&base_change%3Ddel_AGAA|Invitae:777754|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851337;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359435 13 32338574 266796 GA G . . ALLELEID=261229;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338576del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040515 13 32338577 37889 C T . . ALLELEID=46445;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338577C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289066;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358663 13 32338577 51615 CA C . . ALLELEID=66283;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507712 13 32338579 215605 G A . . ALLELEID=213043;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338579G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224306 13 32338581 379540 T A . . ALLELEID=372710;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338581T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057520636 13 32338581 252830 T TA . . ALLELEID=247231;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338583dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2789586;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255450 13 32338584 266797 C CA . . ALLELEID=261230;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338584_32338585insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040516 13 32338596 51616 C T . . AF_ESP=0.00224;AF_EXAC=0.00070;AF_TGP=0.00240;ALLELEID=66284;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338596C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:546306|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17017;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=70953664 13 32338597 229737 G A . . ALLELEID=234786;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338597G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750495335 13 32338597 184218 G T . . AF_EXAC=0.00002;ALLELEID=183795;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32338597G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750495335 13 32338598 37890 G T . . ALLELEID=46446;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32338598G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507327 13 32338599 232359 AG A . . AF_EXAC=0.00001;ALLELEID=234787;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338600del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=767234936 13 32338600 183848 G A . . ALLELEID=183796;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338600G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201111 13 32338601 185745 C T . . ALLELEID=183797;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338601C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202421 13 32338603 185043 A G . . ALLELEID=183798;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338603A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201887 13 32338607 254533 ATAA T . . ALLELEID=248967;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338607_32338610delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038102 13 32338612 51617 AG A . . AF_EXAC=0.00001;ALLELEID=66285;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338613del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:198193|Breast_Cancer_Information_Core__(BRCA2):4486&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359436 13 32338613 41549 G T . . AF_ESP=0.00396;AF_EXAC=0.00680;AF_TGP=0.00399;ALLELEID=49988;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338613G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:123952|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459723|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:41593;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897727 13 32338614 419134 A AT . . ALLELEID=408902;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338618dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283664 13 32338616 266798 TTTGAGAC T . . ALLELEID=261231;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338619_32338625del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040517 13 32338618 184800 T C . . ALLELEID=183799;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338618T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2848084;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201704 13 32338624 184283 T C . . ALLELEID=183800;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338624T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837311;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201377 13 32338625 51624 TC T . . ALLELEID=66292;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338626del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4499&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359437 13 32338626 51623 C G . . ALLELEID=66291;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338626C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:33537;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358664 13 32338627 409487 TG T . . ALLELEID=399385;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338628del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502426 13 32338630 37891 T TA . . ALLELEID=46447;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338631dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4504&base_change%3Dins_A|Invitae:2885761;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359438 13 32338631 182315 AC A . . ALLELEID=180604;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338632del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881608 13 32338633 37892 A AT . . ALLELEID=46448;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338639dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:14539|Breast_Cancer_Information_Core__(BRCA2):4510&base_change%3Dins_T|Breast_Cancer_Information_Core__(BRCA2):4512&base_change%3Dins_T;GENEINFO=BRCA2:675;ORIGIN=1;RS=80359439 13 32338640 266799 C CT . . ALLELEID=261232;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338640_32338641insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040518 13 32338640 51627 C T . . ALLELEID=66295;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338640C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358665 13 32338648 184517 A G . . ALLELEID=183801;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338648A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201516 13 32338654 266801 GA G . . ALLELEID=261233;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338659del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851874;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040520 13 32338658 266803 AAT A . . ALLELEID=261235;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338659AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4912939;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040522 13 32338659 266802 AT A . . ALLELEID=261234;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338660del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040521 13 32338664 419879 A AGT . . ALLELEID=408904;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338665GT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794168 13 32338668 51629 TC T . . ALLELEID=66297;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338669del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4542&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359441 13 32338669 182286 C T . . AF_EXAC=0.00004;ALLELEID=180606;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338669C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2320393|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2532431;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881590 13 32338672 37894 CAA C . . ALLELEID=46450;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338674_32338675del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507328 13 32338675 427425 A G . . ALLELEID=416301;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338675A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838259;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769535925 13 32338678 233384 G A . . ALLELEID=234793;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338678G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660370 13 32338680 51633 C A . . ALLELEID=66301;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338680C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1815565|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289096;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358670 13 32338680 91820 C G . . ALLELEID=97297;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338680C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358670 13 32338681 427492 A G . . AF_TGP=0.00020;ALLELEID=416302;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338681A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=528810278 13 32338688 266805 AAAATT A . . ALLELEID=261236;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338689_32338693del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040524 13 32338693 219536 T C . . ALLELEID=222307;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32338693T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622144 13 32338693 51634 TG T . . ALLELEID=66302;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338694del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4567&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359443 13 32338698 438978 ATTTCT A . . ALLELEID=432795;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338701_32338705del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283735 13 32338706 548434 GATCAGAA G . . ALLELEID=538687;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338708_32338714del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283736 13 32338709 379780 C T . . ALLELEID=372717;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338709C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=431825319 13 32338714 229973 A G . . AF_EXAC=0.00001;ALLELEID=234795;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338714A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854773;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=774446640 13 32338721 266806 G T . . ALLELEID=261237;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338721G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289102;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876659847 13 32338724 184611 T C . . AF_EXAC=0.00002;ALLELEID=183804;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338724T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754004520 13 32338726 184037 G A . . AF_EXAC=0.00001;ALLELEID=183805;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338726G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755130086 13 32338729 438979 TA T . . ALLELEID=432796;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338731del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283752 13 32338732 51638 CTT C . . ALLELEID=66306;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338735_32338736del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507715 13 32338737 233598 CCT C . . ALLELEID=234797;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338738_32338739del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3670553;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660510 13 32338738 266807 C CT . . ALLELEID=261238;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338740dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040525 13 32338746 236278 CTG TT . . ALLELEID=237820;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338746_32338748delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=878853299 13 32338749 51640 AATTAC A . . ALLELEID=66308;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338753_32338757del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:376377|Breast_Cancer_Information_Core__(BRCA2):4626&base_change%3Ddel_ACATT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359444 13 32338750 427452 A G . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416303;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338750A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=188234310 13 32338752 266808 T A . . ALLELEID=261239;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338752T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040526 13 32338756 548412 T TA . . ALLELEID=538688;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338756_32338757insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283766 13 32338757 266809 T TA . . ALLELEID=261240;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338757_32338758insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040527 13 32338758 266810 C CT . . ALLELEID=261241;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338759dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:7235591;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040528 13 32338758 37899 CTGACA C . . ALLELEID=46455;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338760_32338764del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:955981;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507331 13 32338762 51642 CAT C . . ALLELEID=66310;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338764_32338765del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4637&base_change%3Ddel_TA|Invitae:4912947;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359446 13 32338762 51643 CATAAG C . . ALLELEID=66311;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338764_32338768del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1275113;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507718 13 32338764 37902 TAAGA T . . ALLELEID=46458;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338766AGAA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1079999|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_190;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507333 13 32338765 187580 A C . . AF_EXAC=0.00003;ALLELEID=183806;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338765A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747516635 13 32338767 37901 GAA G . . ALLELEID=46457;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338769_32338770del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507332 13 32338771 254534 GA G . . ALLELEID=248968;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338773del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038103 13 32338773 420191 AC A . . ALLELEID=408910;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338774del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794337 13 32338774 51646 CA C . . ALLELEID=66314;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338778del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4651&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359447 13 32338778 266812 A AT . . ALLELEID=261242;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338779dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040530 13 32338783 266813 CA C . . ALLELEID=261243;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338784del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040531 13 32338786 427376 T C . . ALLELEID=416304;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338786T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692111 13 32338789 184342 A G . . ALLELEID=183809;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338789A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201411 13 32338795 51649 T G . . ALLELEID=66317;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN258378,Orphanet:ORPHA485382|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Genetic_non-acquired_premature_ovarian_failure|not_provided;CLNHGVS=NC_000013.11:g.32338795T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507719 13 32338798 232208 G A . . ALLELEID=234799;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338798G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659618 13 32338799 233953 GA G . . ALLELEID=234800;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338802del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660755 13 32338803 37904 CA C . . ALLELEID=46460;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338804del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4677&base_change%3Ddel_A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2391917;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359448 13 32338808 51650 ATAGT A . . ALLELEID=66318;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338811_32338814del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4682&base_change%3Ddel_TAGT|Invitae:948249|Breast_Cancer_Information_Core__(BRCA2):4684&base_change%3Ddel_GTTA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359449 13 32338811 266814 GT G . . ALLELEID=261244;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338813del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4546046;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040532 13 32338813 232850 TAA T . . ALLELEID=234802;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338815_32338816del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660026 13 32338815 51651 AAC A . . ALLELEID=66319;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338817CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:3025549|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:126441;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507720 13 32338816 184236 A G . . ALLELEID=183810;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338816A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201350 13 32338820 254535 A T . . ALLELEID=248969;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338820A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038104 13 32338822 266815 AATACTGA TGTTTTT . . ALLELEID=261245;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338822_32338829delinsTGTTTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844870;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040533 13 32338824 37905 T TA . . ALLELEID=46461;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338825dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1136103;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507334 13 32338824 51652 TACTG T . . ALLELEID=66320;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338826_32338829del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1035315|Breast_Cancer_Information_Core__(BRCA2):4699&base_change%3Ddel_CTGA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359451 13 32338826 427540 C T . . AF_EXAC=0.00001;ALLELEID=416305;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338826C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748982373 13 32338826 37906 CTGAA C . . ALLELEID=46462;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338827_32338830del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4700&base_change%3Ddel_TGAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359452 13 32338827 51653 TGAAA T . . ALLELEID=66321;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0006033,MedGen:C2986658,Orphanet:ORPHA497188|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Diffuse_intrinsic_pontine_glioma|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338829AAAG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:284331|Breast_Cancer_Information_Core__(BRCA2):4706&base_change%3Ddel_AAAG|Breast_Cancer_Information_Core__(BRCA2):4705&base_change%3Ddel_GAAA|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:141381;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359454 13 32338828 266817 G GA . . ALLELEID=261247;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338831dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040534 13 32338828 266816 GA G . . ALLELEID=261246;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338831del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040534 13 32338830 187125 AAG A . . ALLELEID=183812;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338832_32338833del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4195135;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203492 13 32338832 51654 G GA . . ALLELEID=66322;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338835dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4705&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359453 13 32338835 254536 AGT A . . ALLELEID=248970;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338836GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038105 13 32338840 215606 C A . . ALLELEID=213045;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338840C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224307 13 32338840 231343 C T . . ALLELEID=234804;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338840C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224307 13 32338849 184407 T A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=183813;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338849T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373160367 13 32338858 427518 T C . . AF_EXAC=0.00001;ALLELEID=416306;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338858T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752976575 13 32338860 548375 A AT . . ALLELEID=538689;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338860_32338861insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283813 13 32338866 216855 TGACCTTCCAGG T . . ALLELEID=213046;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338870_32338880del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1204758;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=9;RS=863224827 13 32338867 233525 G A . . ALLELEID=234806;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338867G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660462 13 32338867 266818 GA G . . ALLELEID=261248;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338868del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040536 13 32338872 96808 TC T . . ALLELEID=102711;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338874del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3488120;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825321 13 32338879 230428 A T . . ALLELEID=234808;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338879A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658560 13 32338880 51659 C T . . AF_EXAC=0.00001;ALLELEID=66327;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0346647|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Cancer_of_the_pancreas|not_provided;CLNHGVS=NC_000013.11:g.32338880C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358683 13 32338882 266819 AC A . . ALLELEID=261249;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338885del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040537 13 32338885 415663 C G . . ALLELEID=399391;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338885C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757731214 13 32338885 377581 C T . . ALLELEID=373703;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338885C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757731214 13 32338886 254537 GA G . . ALLELEID=248971;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338888del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038106 13 32338889 51662 CG C . . ALLELEID=66330;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338890del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507723 13 32338890 51663 G GTGAT . . ALLELEID=66331;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338891_32338894dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507724 13 32338891 548399 T TGATC . . ALLELEID=538690;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338894_32338895insCGAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283829 13 32338895 438981 G GA . . ALLELEID=432798;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338899dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2129736;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507725 13 32338895 266820 G GCGAT . . ALLELEID=261250;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338895_32338896insCGAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040538 13 32338895 51666 GA G . . ALLELEID=66334;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338899del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2856042|Invitae:2008256;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507725 13 32338900 51667 G GA . . ALLELEID=66335;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338901dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4773&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359456 13 32338902 418759 TCA T . . ALLELEID=408911;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32338903_32338904del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793413 13 32338903 51669 CAAAG C . . ALLELEID=66337;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338906_32338909del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:782426|Breast_Cancer_Information_Core__(BRCA2):4779&base_change%3Ddel_AGAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359457 13 32338906 91822 AG A . . ALLELEID=97299;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338907del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122783 13 32338907 51670 G T . . AF_EXAC=0.00001;ALLELEID=66338;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338907G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507727 13 32338907 51671 GA G . . ALLELEID=66339;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338909del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4782&base_change%3Ddel_A|Invitae:2437461;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359458 13 32338909 427543 A G . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416307;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338909A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200185407 13 32338909 51672 AC A . . ALLELEID=66340;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338911del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507728 13 32338916 185047 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=183815;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338916C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2499161;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370723514 13 32338916 126049 CTA C . . ALLELEID=131587;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338918_32338919del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912966|Breast_Cancer_Information_Core__(BRCA2):4791&base_change%3Ddel_GT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=483353115 13 32338918 182287 A C . . ALLELEID=180608;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32338918A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=206075 13 32338918 132779 A G . . AF_ESP=0.97577;AF_TGP=0.97404;ALLELEID=136527;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338918A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14190|Illumina_Laboratory_Services,Illumina:12101|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459771;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=206075 13 32338919 233709 T C . . ALLELEID=234809;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338919T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660588 13 32338925 51676 T G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=66344;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338925T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56386506 13 32338930 427470 T C . . AF_EXAC=0.00001;ALLELEID=416308;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338930T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762189076 13 32338930 266821 T TA . . ALLELEID=261251;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338931dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040539 13 32338933 184353 A G . . AF_EXAC=0.00016;AF_TGP=0.00020;ALLELEID=183816;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32338933A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=202022822 13 32338939 216856 C CG . . ALLELEID=213047;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338942dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1208711;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=745456776 13 32338939 51677 C T . . AF_ESP=0.00023;AF_TGP=0.00040;ALLELEID=66345;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338939C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:544982|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:202256;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359788 13 32338940 37910 G A . . AF_ESP=0.00046;AF_EXAC=0.00042;AF_TGP=0.00060;ALLELEID=46466;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338940G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:34255|Illumina_Laboratory_Services,Illumina:603271;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897728 13 32338942 51681 G GA . . ALLELEID=66349;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338948dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4393037;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507731 13 32338942 409597 G T . . ALLELEID=399393;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338942G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060502489 13 32338942 51680 GA G . . ALLELEID=66348;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32338948del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507731 13 32338943 51678 A T . . ALLELEID=66346;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338943A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289168|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2557663|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2388344;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358692 13 32338946 246173 AAAGTT A . . ALLELEID=244849;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338949_32338953del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879254138 13 32338947 254538 AAGTT A . . ALLELEID=248972;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32338949_32338952del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038107 13 32338963 184855 G A . . ALLELEID=183817;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338963G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201740 13 32338964 209218 G A . . ALLELEID=205910;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338964G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753244927 13 32338968 225717 CTT C . . ALLELEID=227534;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338970_32338971del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5892491;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320783 13 32338969 51683 T C . . AF_ESP=0.00008;AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=66351;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338969T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_821|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:39733|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459799|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2401116;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45520945 13 32338973 225742 GACAAA G . . ALLELEID=227535;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338974_32338978del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320793 13 32338979 266822 GT G . . ALLELEID=261252;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338980del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040540 13 32338981 37912 G GA . . ALLELEID=46468;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32338986dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4859&base_change%3Dins_A|Invitae:551763|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2430766;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359460 13 32338981 427485 G T . . AF_EXAC=0.00001;ALLELEID=416309;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338981G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772004723 13 32338981 37913 GA G . . ALLELEID=46469;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338986del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:150106|Invitae:36668|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_18045_nvtapin_14136|Breast_Cancer_Information_Core__(BRCA2):4859&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359460 13 32338986 230589 AC A . . ALLELEID=234810;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32338988del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658654 13 32338988 51686 C CT . . ALLELEID=66354;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32338993dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359462 13 32338988 37915 CT C . . ALLELEID=46471;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32338993del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4866&base_change%3Ddel_T|Invitae:740179|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_169|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2425079;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359462 13 32338993 266823 TGA GG . . ALLELEID=261253;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32338993_32338995delinsGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040541 13 32339001 51687 AAGAG A . . ALLELEID=66355;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339002_32339005del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2535805;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507734 13 32339003 9344 G T . . ALLELEID=24383;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia;CLNHGVS=NC_000013.11:g.32339003G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600185.0029;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358695 13 32339006 234524 C T . . ALLELEID=231875;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339006C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852188;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876661062 13 32339007 548415 AAGGT A . . ALLELEID=538691;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339009_32339012del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283889 13 32339011 51690 T C . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=66358;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339011T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2744165|Breast_Cancer_Information_Core__(BRCA2):4884&base_change%3DT_to_C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1832219;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41293491 13 32339028 420798 GT G . . ALLELEID=408914;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339032del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4092836;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794708 13 32339032 184567 T C . . ALLELEID=183819;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339032T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855488;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201540 13 32339038 231806 T C . . ALLELEID=234812;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339038T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659377 13 32339039 51696 C T . . ALLELEID=66364;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339039C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507737 13 32339041 136561 A G . . AF_ESP=0.00046;AF_EXAC=0.00026;AF_TGP=0.00040;ALLELEID=140264;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339041A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:286414|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:50517;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897730 13 32339044 254539 G A . . ALLELEID=248973;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32339044G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:104258;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038108 13 32339045 188309 G GC . . AF_ESP=0.00008;ALLELEID=186176;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339046dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:269089;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204209 13 32339049 51697 A AGACC . . ALLELEID=66365;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339050_32339053dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912974;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507738 13 32339053 186633 C T . . AF_EXAC=0.00003;ALLELEID=183820;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339053C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2255467;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750813972 13 32339054 419021 C CT . . ALLELEID=408915;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339055dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283907 13 32339054 185126 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=183821;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339054C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146514381 13 32339060 441486 TAC T . . ALLELEID=435007;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339062_32339063del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555283911 13 32339062 236871 C A . . ALLELEID=241682;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339062C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2648027;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=878853585 13 32339062 37919 CAG C . . ALLELEID=46475;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339063AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:863478|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289234|Breast_Cancer_Information_Core__(BRCA2):4936&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359464 13 32339064 440431 GA G . . ALLELEID=434062;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339065del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283915 13 32339068 236872 G A . . ALLELEID=241683;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339068G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=431825322 13 32339074 252833 T TA . . ALLELEID=247234;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339077dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;ORIGIN=1;RS=879255453 13 32339080 184480 C T . . AF_EXAC=0.00002;ALLELEID=183822;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339080C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838474;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752402938 13 32339084 548325 G GA . . ALLELEID=538692;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339086dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912977;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507740 13 32339084 252834 GA G . . ALLELEID=247235;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339086del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507740 13 32339086 51704 ATTAGC G . . ALLELEID=66372;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339086_32339091delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4959&base_change%3Ddel_ATTAGC_ins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174846 13 32339092 220160 A ATG . . ALLELEID=222311;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32339093TG[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:319829;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=864622401 13 32339096 266830 G AA . . ALLELEID=261254;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339096delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040547 13 32339097 51707 A ATG . . ALLELEID=66375;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339097_32339098insTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):4970&base_change%3Dins_TG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174847 13 32339102 438982 AT A . . ALLELEID=432799;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339104del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283928 13 32339117 51713 GC G . . ALLELEID=66381;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339121del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507741 13 32339121 252444 CA C . . ALLELEID=246840;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339124del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255328 13 32339122 185254 A G . . ALLELEID=183824;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339122A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850977;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755818549 13 32339129 266831 A T . . ALLELEID=261255;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339129A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289246;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040548 13 32339132 51714 GA G . . ALLELEID=66382;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339135del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4912987;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507742 13 32339134 41551 A C . . AF_EXAC=0.00041;AF_TGP=0.00100;ALLELEID=49990;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339134A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358703 13 32339138 266832 C T . . ALLELEID=261256;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339138C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040549 13 32339146 184842 T C . . ALLELEID=183826;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339146T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2644273;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201728 13 32339147 254540 CTCAA C . . ALLELEID=248974;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339149_32339152del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=747418290 13 32339151 51715 AT A . . ALLELEID=66383;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339152del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5025&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359465 13 32339152 427427 T C . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416310;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339152T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=543172402 13 32339152 266833 TA T . . ALLELEID=261257;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339154del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040550 13 32339158 51719 T TA . . ALLELEID=66387;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339163dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:835856|Breast_Cancer_Information_Core__(BRCA2):5036&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359466 13 32339158 51718 TA T . . ALLELEID=66386;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339163del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4549267;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359466 13 32339164 126053 C CA . . ALLELEID=131591;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339164_32339165insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5037&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359467 13 32339175 254541 TTG T . . AF_EXAC=0.00001;ALLELEID=248975;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339176_32339177del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=769017108 13 32339176 142963 TGA C . . ALLELEID=152677;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339176_32339178delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782854 13 32339176 182317 TGA T . . ALLELEID=180611;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339177GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881610 13 32339181 51721 CTG C . . ALLELEID=66389;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339182TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289264|Invitae:195336|Breast_Cancer_Information_Core__(BRCA2):5057&base_change%3Ddel_TG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359468 13 32339182 51720 T TG . . ALLELEID=66388;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339183dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:3700617;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507744 13 32339185 51722 G A . . AF_EXAC=0.00003;ALLELEID=66390;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32339185G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5058&base_change%3DG_to_A;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359789 13 32339185 186879 G T . . ALLELEID=183829;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339185G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359789 13 32339194 427461 T G . . AF_EXAC=0.00001;ALLELEID=416311;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339194T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752311184 13 32339197 51725 GCT G . . ALLELEID=66393;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339198CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5073&base_change%3Ddel_CT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359469 13 32339200 230866 C T . . ALLELEID=234821;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339200C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658816 13 32339201 431309 TTAAG T . . ALLELEID=424740;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339203_32339206del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401903 13 32339202 91826 T G . . ALLELEID=97303;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339202T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122786 13 32339202 51726 TAA T . . ALLELEID=66394;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339203_32339204del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4092169;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507746 13 32339203 231605 A G . . ALLELEID=234822;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339203A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659259 13 32339208 266835 A GCTCT . . ALLELEID=261258;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339208delinsGCTCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040551 13 32339213 185574 T C . . AF_EXAC=0.00002;AF_TGP=0.00040;ALLELEID=183830;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339213T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2848001;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=528771743 13 32339214 51730 T G . . ALLELEID=66398;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339214T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289282;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358710 13 32339228 409426 G GA . . ALLELEID=399759;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339232dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359470 13 32339228 37929 GAA G . . ALLELEID=46485;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339231_32339232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5104&base_change%3Ddel_AA|Invitae:171776;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=17;RS=80359470 13 32339236 184284 C G . . AF_EXAC=0.00001;ALLELEID=183831;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339236C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756104738 13 32339244 51731 C A . . ALLELEID=66399;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339244C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_312;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358711 13 32339244 51732 C G . . AF_EXAC=0.00002;ALLELEID=66400;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339244C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289294;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358711 13 32339244 441371 CA C . . ALLELEID=435010;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339249del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555283980 13 32339248 51735 AAG A . . ALLELEID=66403;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339249_32339250del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507748 13 32339254 126055 C CT . . ALLELEID=131593;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339259dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5132&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359471 13 32339259 254542 T A . . ALLELEID=248976;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339259T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038110 13 32339263 420258 AG A . . ALLELEID=408918;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339264del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794377 13 32339266 187127 T TA . . ALLELEID=183832;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339269dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4912996;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203494 13 32339267 266837 A T . . ALLELEID=261259;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339267A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040553 13 32339271 51739 TA T . . ALLELEID=66407;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339272del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507749 13 32339275 37933 TGAAA T . . ALLELEID=46489;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339276_32339279del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507344 13 32339276 51742 GAAAATGTAGA G . . ALLELEID=66410;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339281_32339290del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507750 13 32339283 266838 TAGAAAAAG T . . ALLELEID=261260;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339285_32339292del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040554 13 32339284 230767 A G . . ALLELEID=234823;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339284A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658757 13 32339285 51745 GA G . . ALLELEID=66413;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339290del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913000|Breast_Cancer_Information_Core__(BRCA2):5163&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359472 13 32339287 37935 AAAAG A . . ALLELEID=46491;CLNDISDB=Human_Phenotype_Ontology:HP:0000102,Human_Phenotype_Ontology:HP:0000787,MONDO:MONDO:0008171,MedGen:C0392525|Human_Phenotype_Ontology:HP:0000266,Human_Phenotype_Ontology:HP:0001354,Human_Phenotype_Ontology:HP:0002315,MedGen:C0018681|Human_Phenotype_Ontology:HP:0000736,MedGen:C0262630|Human_Phenotype_Ontology:HP:0001023,Human_Phenotype_Ontology:HP:0001065,Human_Phenotype_Ontology:HP:0001066,Human_Phenotype_Ontology:HP:0100680,MedGen:C0152459|Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,OMIM:601665,SNOMED_CT:414916001|Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002099,Human_Phenotype_Ontology:HP:0002112,MONDO:MONDO:0004979,MedGen:C0004096|Human_Phenotype_Ontology:HP:0011986,MedGen:C0029396|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Nephrolithiasis|Headache|Short_attention_span|Striae_distensae|Muscle_weakness|Obesity|Migraine|Asthma|Ectopic_ossification|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339291_32339294del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5164&base_change%3Ddel_GAAA|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2654744|Invitae:203957;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359473 13 32339288 51744 A T . . ALLELEID=66412;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339288A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358719 13 32339289 96811 AAG A . . ALLELEID=102714;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339291_32339292del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6882203;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825323 13 32339290 548324 AG A . . AF_EXAC=0.00001;ALLELEID=538693;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339291del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=773286595 13 32339291 266839 G GA . . ALLELEID=261261;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339294dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040555 13 32339291 254543 G T . . ALLELEID=248977;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339291G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038111 13 32339293 220054 A G . . ALLELEID=222314;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339293A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622359 13 32339293 51746 AAC A . . ALLELEID=66414;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339295_32339296del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913002;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507751 13 32339294 254544 AC A . . ALLELEID=248978;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339295del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038112 13 32339296 231846 A G . . ALLELEID=234824;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339296A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659398 13 32339298 51747 CAA C . . ALLELEID=66415;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339302_32339303del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1068317|Breast_Cancer_Information_Core__(BRCA2):5175&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359474 13 32339305 51748 TC T . . ALLELEID=66416;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339307del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507752 13 32339313 266840 C CT . . ALLELEID=261262;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339315dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040556 13 32339316 221620 GT G . . ALLELEID=223361;CLNDISDB=MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Carcinoma_of_colon|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339318del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040557 13 32339317 373825 T A . . ALLELEID=360713;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339317T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057518638 13 32339318 91830 T TA . . ALLELEID=97307;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339319dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1398507;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122789 13 32339319 51751 AC A . . ALLELEID=66419;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339320del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5193&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359475 13 32339320 51750 C A . . ALLELEID=66418;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339320C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2699750|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289342;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358721 13 32339320 37936 C G . . AF_EXAC=0.00001;ALLELEID=46492;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339320C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:149228|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2428529|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289348|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-1|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721208;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=9;RS=80358721 13 32339320 254545 C GA . . ALLELEID=248979;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339320delinsGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038113 13 32339327 254546 C T . . ALLELEID=248980;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339327C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038114 13 32339330 548385 T TG . . ALLELEID=538694;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339330_32339331insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284014 13 32339332 182288 C T . . AF_ESP=0.00015;AF_EXAC=0.00012;ALLELEID=180613;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339332C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2409114|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830520;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45484897 13 32339334 266841 CT C . . ALLELEID=261263;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339336del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040558 13 32339335 548414 T TG . . ALLELEID=538695;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339335_32339336insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284020 13 32339336 126057 T TG . . ALLELEID=131595;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339336_32339337insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5209&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359476 13 32339338 417624 T G . . ALLELEID=404602;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339338T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1060499833 13 32339338 51752 TTCAG T . . ALLELEID=66420;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339342_32339345del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4477569;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507753 13 32339340 266842 C G . . ALLELEID=261264;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339340C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040559 13 32339341 185266 A C . . ALLELEID=183835;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339341A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202043 13 32339344 91831 CAT C . . ALLELEID=97308;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339345_32339346del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122790 13 32339352 51753 A AT . . ALLELEID=66421;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339354dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507754 13 32339355 37938 C G . . ALLELEID=46494;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339355C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507346 13 32339364 51755 C CT . . ALLELEID=66423;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339369dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507755 13 32339371 219406 C G . . ALLELEID=222315;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339371C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=864622073 13 32339380 186066 T C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=183837;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32339380T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370591460 13 32339383 215608 T C . . ALLELEID=213051;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339383T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762458631 13 32339385 37939 GA G . . ALLELEID=46495;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339390del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2196520|Breast_Cancer_Information_Core__(BRCA2):5263&base_change%3Ddel_A|Invitae:3105593;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359477 13 32339392 266843 TTC T . . ALLELEID=261265;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339394_32339395del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040560 13 32339394 37940 CTG C . . ALLELEID=46496;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339395TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:898049|Breast_Cancer_Information_Core__(BRCA2):5270&base_change%3Ddel_TG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359478 13 32339399 51759 AG A . . ALLELEID=66427;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339400del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507756 13 32339402 266844 CAG C . . ALLELEID=261266;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339404_32339405del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040561 13 32339402 266845 CAGACTTCATTACTTGA C . . ALLELEID=261267;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339405_32339420del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040562 13 32339404 415705 G A . . AF_EXAC=0.00002;ALLELEID=399780;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339404G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773973434 13 32339409 91832 C A . . ALLELEID=97309;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339409C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122791 13 32339410 135802 A G . . ALLELEID=139514;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339410A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780654 13 32339412 254547 T A . . ALLELEID=248981;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339412T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038115 13 32339420 51761 GC AAA . . ALLELEID=66429;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339420_32339421delinsAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5293&base_change%3Ddel_GC_ins_AAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174852 13 32339421 37943 C CA . . ALLELEID=46499;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Breast-ovarian_cancer,_familial_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339428dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289378|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1781200|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_16221_605|Breast_Cancer_Information_Core__(BRCA2):5301&base_change%3Dins_A|Invitae:68582;GENEINFO=BRCA2:675;ORIGIN=17;RS=80359479 13 32339421 51762 CA C . . ALLELEID=66430;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339428del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5301&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359479 13 32339421 254549 CAAAA C . . ALLELEID=248982;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339425_32339428del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5296&base_change%3Ddel_AAAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359479 13 32339425 37942 A C . . AF_ESP=0.00015;AF_EXAC=0.00021;ALLELEID=46498;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339425A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459843|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148643;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56087561 13 32339426 254548 A T . . ALLELEID=248983;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339426A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038116 13 32339429 126059 T TA . . ALLELEID=131597;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339429_32339430insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5302&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289384;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359482 13 32339429 233618 TG T . . ALLELEID=234830;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339431del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660524 13 32339435 37944 A T . . ALLELEID=46500;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339435A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=200265692 13 32339438 548327 G GA . . ALLELEID=538696;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339440dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284062 13 32339441 51764 G GA . . ALLELEID=66432;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339441_32339442insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507757 13 32339456 51767 C T . . ALLELEID=66435;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339456C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847473;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507758 13 32339460 246151 CAGAA C . . ALLELEID=244852;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339461AGAA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=879254123 13 32339461 427521 A G . . AF_EXAC=0.00002;ALLELEID=416312;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339461A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=781587561 13 32339462 51770 G T . . ALLELEID=66438;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339462G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289396;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358735 13 32339462 266847 GA G . . ALLELEID=261268;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339465del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040564 13 32339465 422242 A T . . ALLELEID=408920;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339465A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064795652 13 32339466 51773 GAATA G . . ALLELEID=66441;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32339467AATA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:3304656|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2585898|Breast_Cancer_Information_Core__(BRCA2):5344&base_change%3Ddel_AATA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174853 13 32339469 51772 TAAATA T . . ALLELEID=66440;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339470_32339474del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507759 13 32339470 266848 AAATA G . . ALLELEID=261269;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339470_32339474delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040565 13 32339473 266850 T TA . . ALLELEID=261271;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339474dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:6861688;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040567 13 32339473 266849 TACTG T . . ALLELEID=261270;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339474_32339477del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040566 13 32339474 265057 AC A . . ALLELEID=260046;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339475del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2698694;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886039318 13 32339478 266851 CAGATT C . . ALLELEID=261272;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339480_32339484del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040568 13 32339479 427463 A T . . AF_EXAC=0.00001;ALLELEID=416313;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339479A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780535833 13 32339482 51775 TTATG T . . ALLELEID=66443;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339485_32339488del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5357&base_change%3Ddel_ATGT|Breast_Cancer_Information_Core__(BRCA2):5358&base_change%3Ddel_TGTA|Invitae:814987;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359484 13 32339484 254550 AT A . . ALLELEID=248984;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339485del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038118 13 32339485 51777 TG T . . ALLELEID=66445;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339486del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507760 13 32339485 254551 TGTAG T . . ALLELEID=248985;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339487_32339490del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5359&base_change%3Ddel_GTAG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359486 13 32339488 427527 A G . . AF_EXAC=0.00001;ALLELEID=416314;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339488A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749748066 13 32339489 234506 G T . . ALLELEID=231880;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339489G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876661056 13 32339490 254552 GA G . . ALLELEID=248986;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339493del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038120 13 32339493 51778 ATTAT A . . ALLELEID=66446;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339496_32339499del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913025|Breast_Cancer_Information_Core__(BRCA2):5369&base_change%3Ddel_ATTT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359487 13 32339498 51779 TTGTA T . . ALLELEID=66447;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339501_32339504del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:984117|Breast_Cancer_Information_Core__(BRCA2):5373&base_change%3Ddel_GTAT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174854 13 32339503 266852 TG T . . ALLELEID=261273;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339504del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040569 13 32339508 266853 ATAATT A . . ALLELEID=261274;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339509_32339513del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040570 13 32339509 51780 TAATTC T . . ALLELEID=66448;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339512_32339516del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5385&base_change%3Ddel_TTCAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359488 13 32339510 266854 AATTC A . . ALLELEID=261275;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339512_32339515del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040571 13 32339511 51781 A AT . . ALLELEID=66449;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339513dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5386&base_change%3Dins_T|Invitae:173594;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359489 13 32339513 375547 TCAAA T . . ALLELEID=362356;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339516_32339519del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Veritas_Genetics,Veritas_Genetics:871255;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057519559 13 32339514 142608 C A . . ALLELEID=152322;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339514C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850962;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358740 13 32339514 51782 C G . . ALLELEID=66450;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339514C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358740 13 32339515 266855 AAACAGTAC TACAA . . ALLELEID=261276;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339515_32339523delinsTACAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040572 13 32339516 51792 A AACAGT . . ALLELEID=66460;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339519_32339523dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507765 13 32339518 51791 CAG C . . ALLELEID=66459;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339519_32339520del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5392&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359490 13 32339520 225744 G GT . . ALLELEID=227537;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339521dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320794 13 32339523 141872 C CTA . . ALLELEID=151586;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339524TA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4913029;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782075 13 32339524 254553 T TA . . ALLELEID=248987;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339525dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038121 13 32339525 51804 AT A . . ALLELEID=66472;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339526del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4257993;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507767 13 32339531 51807 G GA . . ALLELEID=66475;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339535dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359491 13 32339531 51806 GA G . . ALLELEID=66474;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339535del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5408&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359491 13 32339537 441526 GAC G . . ALLELEID=435013;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339539_32339540del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284094 13 32339547 233155 ATC A . . ALLELEID=234831;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339548TC[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:3840455;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660228 13 32339549 89048 CT C . . ALLELEID=94591;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32339550del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779363 13 32339551 51812 C CT . . ALLELEID=66480;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339552dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507771 13 32339552 266856 T TCC . . ALLELEID=261277;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339553_32339554dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040573 13 32339553 37950 C T . . AF_ESP=0.00108;AF_EXAC=0.00047;AF_TGP=0.00180;ALLELEID=46506;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339553C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:52263|Illumina_Laboratory_Services,Illumina:438734|Institute_for_Genomic_Medicine_(IGM)_Clinical_Laboratory,Nationwide_Children's_Hospital:NCH_ACC:2242;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55639415 13 32339554 51813 C T . . AF_ESP=0.00385;AF_EXAC=0.00450;AF_TGP=0.00160;ALLELEID=66481;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339554C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:100749|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459856|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723075|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:16548|Breast_Cancer_Information_Core__(BRCA2):5427&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897734 13 32339555 254554 G T . . ALLELEID=248988;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339555G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202543 13 32339555 266859 GA G . . ALLELEID=261279;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339560del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=483353082 13 32339556 438988 AAAAA GAAAAG . . ALLELEID=432803;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339556_32339560delinsGAAAAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=483353082 13 32339557 266858 AAAAC A . . ALLELEID=261278;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339560_32339563del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040575 13 32339560 427384 A G . . ALLELEID=416315;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339560A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692115 13 32339561 224444 C T . . ALLELEID=226173;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339561C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886037802 13 32339561 51817 CA C . . ALLELEID=66485;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339563del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507774 13 32339561 51816 CAA C . . ALLELEID=66484;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339562_32339563del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507773 13 32339565 37951 ATACT A . . ALLELEID=46507;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339568_32339571del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:806744|Breast_Cancer_Information_Core__(BRCA2):5441&base_change%3Ddel_CTTA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359493 13 32339567 266860 AC A . . ALLELEID=261280;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339568del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040577 13 32339568 91839 CT C . . ALLELEID=97316;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339570del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122796 13 32339568 51820 CTTAT C . . ALLELEID=66488;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339572_32339575del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3521677|Breast_Cancer_Information_Core__(BRCA2):5445&base_change%3Ddel_TTTA;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359494 13 32339569 220003 T G . . ALLELEID=222317;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32339569T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622338 13 32339569 51823 TTATTTAAG T . . ALLELEID=66491;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339572_32339579del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5445&base_change%3Ddel_TTTAAGTA;GENEINFO=BRCA2:675;ORIGIN=1;RS=80359497 13 32339570 266861 T TA . . ALLELEID=261281;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339571dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4481124;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040578 13 32339570 51821 TATTTA T . . ALLELEID=66489;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339572_32339576del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5445&base_change%3Ddel_TTTAA;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359495 13 32339570 266864 TATTTAAGTAACAGTAGC T . . ALLELEID=261284;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339573_32339589del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040581 13 32339571 266866 A AT . . ALLELEID=261286;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339574dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040582 13 32339571 266865 AT A . . ALLELEID=261285;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339574del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040582 13 32339571 51822 ATTTAAGT A . . AF_EXAC=0.00001;ALLELEID=66490;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339572_32339578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5445&base_change%3Ddel_TTTAAGT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148473;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359496 13 32339572 51819 T A . . ALLELEID=66487;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339572T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358746 13 32339572 183996 T C . . AF_EXAC=0.00001;ALLELEID=183845;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339572T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358746 13 32339572 266862 TT A . . ALLELEID=261282;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339572_32339573delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040579 13 32339572 266863 TTTAAGTA T . . ALLELEID=261283;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339573_32339579del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040580 13 32339573 548344 T TTA . . ALLELEID=538697;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339574_32339575dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555284115 13 32339573 126063 TTAAG T . . ALLELEID=131601;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339577_32339580del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5450&base_change%3Ddel_GTAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359498 13 32339576 186235 AGTAA C . . ALLELEID=183847;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339576_32339580delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202798 13 32339590 236279 G GTC . . ALLELEID=237821;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339592_32339593dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284127 13 32339592 37954 C CT . . ALLELEID=46510;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339593dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5466&base_change%3Dins_T|Invitae:968495|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_227;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=80359499 13 32339594 548382 A AAT . . ALLELEID=538698;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339595_32339596insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284129 13 32339594 126064 A AT . . ALLELEID=131602;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339594_32339595insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289480|Breast_Cancer_Information_Core__(BRCA2):5467&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359500 13 32339595 252837 AC A . . ALLELEID=247238;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339596del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255457 13 32339596 254555 C CTA . . AF_EXAC=0.00001;ALLELEID=248989;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339596_32339597insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=749980674 13 32339599 232075 C T . . ALLELEID=234833;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339599C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=398122528 13 32339603 51829 TC T . . ALLELEID=66497;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339605del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507776 13 32339607 51831 AC A . . ALLELEID=66499;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339609del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507777 13 32339608 548433 C A . . ALLELEID=538699;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339608C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555284133 13 32339618 266867 G T . . ALLELEID=261287;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339618G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040584 13 32339620 184997 G A . . AF_EXAC=0.00001;ALLELEID=183849;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339620G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746649823 13 32339620 37955 GGTAT G . . ALLELEID=46511;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339621_32339624del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5494&base_change%3Ddel_GTAT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359501 13 32339621 126065 GTATATAATGATTCAGGA G . . ALLELEID=131603;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339625_32339641del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5498&base_change%3Ddel_17|Invitae:1055504;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359502 13 32339623 135803 A G . . AF_EXAC=0.00004;ALLELEID=139515;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339623A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:824521|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830918;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=9;RS=199879914 13 32339624 266868 TATAA T . . ALLELEID=261288;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339625_32339628del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040585 13 32339634 51833 C G . . ALLELEID=66501;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339634C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289504;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358751 13 32339636 254556 G T . . ALLELEID=248990;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339636G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038122 13 32339640 37956 ATC A . . ALLELEID=46512;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339641TC[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:510378|Breast_Cancer_Information_Core__(BRCA2):5518&base_change%3Ddel_TC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359503 13 32339641 51836 T A . . ALLELEID=66504;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339641T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358754 13 32339644 236878 C T . . AF_EXAC=0.00001;ALLELEID=241688;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32339644C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=763052573 13 32339646 51837 C G . . ALLELEID=66505;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339646C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507778 13 32339648 252838 A T . . ALLELEID=247239;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339648A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=879255458 13 32339649 422009 AAAAT A . . ALLELEID=408925;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339653_32339656del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2562993;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795500 13 32339652 266869 AT A . . ALLELEID=261289;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339653del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040586 13 32339653 51838 T C . . ALLELEID=66506;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339653T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5526&base_change%3DT_to_C;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174856 13 32339657 254557 CT C . . ALLELEID=248991;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339659del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038123 13 32339657 37957 CTT C . . AF_EXAC=0.00001;ALLELEID=46513;CLNDISDB=Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Intellectual_disability|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339658_32339659del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:s060|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_234|Breast_Cancer_Information_Core__(BRCA2):5531&base_change%3Ddel_TT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2255251;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359505 13 32339658 266870 TTGATTCTG A . . ALLELEID=261290;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339658_32339666delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040587 13 32339661 231574 AT A . . ALLELEID=234838;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339663del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659236 13 32339662 427533 T C . . AF_EXAC=0.00001;ALLELEID=416316;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339662T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767693329 13 32339667 37958 G A . . AF_ESP=0.00038;AF_EXAC=0.00031;AF_TGP=0.00020;ALLELEID=46514;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339667G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:111923|Illumina_Laboratory_Services,Illumina:89813|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723157;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358755 13 32339674 132770 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=136518;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|not_specified;CLNHGVS=NC_000013.11:g.32339674G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:159138;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376257217 13 32339680 548408 A AT . . ALLELEID=538700;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339682dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284173 13 32339680 427534 A G . . AF_EXAC=0.00002;ALLELEID=416317;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339680A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766659380 13 32339684 266871 AAGAAT G . . ALLELEID=261291;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339684_32339689delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040588 13 32339685 230991 AGAATGTT A . . ALLELEID=234839;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339689_32339695del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658888 13 32339692 266872 T TG . . ALLELEID=261292;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339693dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040589 13 32339696 548411 G GA . . ALLELEID=538701;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339697dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284179 13 32339698 51843 TCA T . . ALLELEID=66511;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339699_32339700del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5572&base_change%3Ddel_CA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359506 13 32339699 37960 C CA . . ALLELEID=46516;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339706dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2709835|Breast_Cancer_Information_Core__(BRCA2):5579&base_change%3Dins_A|Invitae:572260;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359507 13 32339699 266873 C CAA . . ALLELEID=261293;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339705_32339706dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359507 13 32339699 51842 C T . . ALLELEID=66510;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339699C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289528;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358757 13 32339699 37961 CA C . . ALLELEID=46517;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339706del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5579&base_change%3Ddel_A|Invitae:886143;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359507 13 32339699 37959 CAA C . . ALLELEID=46515;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN239275|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|BRCA2-Related_Disorders|not_provided;CLNHGVS=NC_000013.11:g.32339705_32339706del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:56135|Breast_Cancer_Information_Core__(BRCA2):5578&base_change%3Ddel_AA|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18417_605|Invitae:155206;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359507 13 32339705 51844 AA T . . ALLELEID=66512;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339705_32339706delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507779 13 32339705 51846 AAC A . . ALLELEID=66514;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339706AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4913051;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507780 13 32339706 548420 A AC . . ALLELEID=538702;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339707dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284188 13 32339706 91413 AC A . . ALLELEID=96890;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339707del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122531 13 32339707 266874 C CA . . ALLELEID=261294;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339708dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040590 13 32339707 185697 CA C . . ALLELEID=183854;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339708del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202385 13 32339709 51847 C CT . . ALLELEID=66515;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339710dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507781 13 32339709 441483 CTA C . . ALLELEID=435016;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339710_32339711del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284191 13 32339711 231996 AG A . . ALLELEID=234840;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339712del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659482 13 32339712 141572 G GT . . ALLELEID=151286;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339717dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4913055;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781849 13 32339717 89049 T TC . . ALLELEID=94592;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339719dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779364 13 32339720 266875 A T . . ALLELEID=261295;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339720A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782240 13 32339731 96820 CA C . . ALLELEID=102723;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339733del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825330 13 32339733 252445 A ATT . . ALLELEID=246841;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339734_32339735insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255329 13 32339734 185699 T C . . AF_ESP=0.00008;ALLELEID=183855;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339734T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146917776 13 32339734 51848 TG T . . ALLELEID=66516;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339735del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507782 13 32339739 142629 AAG A . . ALLELEID=152343;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339741_32339742del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913057;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782598 13 32339740 156171 AG A . . ALLELEID=165970;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339741del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587776467 13 32339743 51849 TGC T . . ALLELEID=66517;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339744_32339745del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507783 13 32339744 183184 GC G . . ALLELEID=181311;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339745del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730882168 13 32339749 188430 T C . . ALLELEID=186446;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339749T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786204276 13 32339755 423402 C G . . ALLELEID=408927;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339755C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=780919805 13 32339755 427451 C T . . AF_EXAC=0.00001;ALLELEID=416318;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339755C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780919805 13 32339759 51856 C T . . ALLELEID=66524;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339759C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358763 13 32339763 37963 CTG C . . ALLELEID=46519;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339765_32339766del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1290019|Breast_Cancer_Information_Core__(BRCA2):5638&base_change%3Ddel_GT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359512 13 32339769 548337 A AT . . ALLELEID=538703;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339770dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555284212 13 32339773 132781 A G . . AF_ESP=0.00830;AF_EXAC=0.00233;AF_TGP=0.00679;ALLELEID=136529;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339773A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459891|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28915|Illumina_Laboratory_Services,Illumina:797560;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34351119 13 32339774 141219 GAT G . . ALLELEID=150933;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339775AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781585 13 32339782 51859 C T . . AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=66527;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339782C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5655&base_change%3DC_to_T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:183029;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359791 13 32339786 51861 GAGGA G . . ALLELEID=66529;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339788_32339791del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507784 13 32339789 51862 G T . . ALLELEID=66530;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339789G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358767 13 32339789 37965 GA G . . ALLELEID=46521;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339791del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507351 13 32339792 51863 CT C . . ALLELEID=66531;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339794del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1191865;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507785 13 32339795 266876 G GTGAC . . ALLELEID=261296;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339797_32339800dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040591 13 32339800 236880 T C . . ALLELEID=241690;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339800T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853589 13 32339808 51864 CA C . . ALLELEID=66532;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339809del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5682&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359513 13 32339810 51865 C T . . AF_ESP=0.00008;ALLELEID=66533;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339810C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:126373|Illumina_Laboratory_Services,Illumina:1308737;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358768 13 32339813 266877 T TGC . . ALLELEID=261297;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339814_32339815dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040592 13 32339815 420664 C CA . . ALLELEID=408929;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339820dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284237 13 32339815 427538 C T . . AF_EXAC=0.00001;ALLELEID=416319;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339815C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758869410 13 32339820 51866 A AT . . ALLELEID=66534;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339821dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5694&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359514 13 32339821 37967 T TA . . ALLELEID=46523;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339826dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5699&base_change%3Dins_A|Invitae:4246105;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359515 13 32339821 51869 TA T . . ALLELEID=66537;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339826del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359515 13 32339821 142638 TAA T . . ALLELEID=152352;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339825_32339826del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359515 13 32339827 427473 T C . . ALLELEID=416320;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339827T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756797448 13 32339827 266878 T TA . . ALLELEID=261298;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339827_32339828insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289588;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040593 13 32339833 41553 CATTAA C . . ALLELEID=49992;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339837_32339841del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4678358|Breast_Cancer_Information_Core__(BRCA2):5710&base_change%3Ddel_AAATT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359516 13 32339839 254558 AT A . . ALLELEID=248992;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339841del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038124 13 32339842 427392 G A . . ALLELEID=416321;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339842G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779967765 13 32339845 184431 C T . . ALLELEID=183856;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339845C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844675;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201459 13 32339846 126069 A AT . . ALLELEID=131607;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339847dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5720&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359517 13 32339850 187597 C CT . . ALLELEID=183857;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339851dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:9609752;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786203853 13 32339851 37970 TA T . . ALLELEID=46526;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339853del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:9763718;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507353 13 32339880 51877 CT C . . ALLELEID=66545;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339881del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5754&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359518 13 32339884 230303 A C . . AF_ESP=0.00008;AF_TGP=0.00040;ALLELEID=234843;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339884A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2557665;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372951842 13 32339884 427484 A T . . ALLELEID=416322;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339884A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372951842 13 32339896 51878 CA C . . AF_EXAC=0.00001;ALLELEID=66546;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339897del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2414077|Breast_Cancer_Information_Core__(BRCA2):5770&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359519 13 32339902 135805 T G . . ALLELEID=139517;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339902T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780656 13 32339902 441413 TA T . . ALLELEID=435020;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339906del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040594 13 32339902 266879 TAA T . . ALLELEID=261299;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339905_32339906del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040594 13 32339905 266880 AATCGTTTGTGTTTCAC TTGGCT . . ALLELEID=261300;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339905_32339921delinsTTGGCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040595 13 32339907 37972 T G . . AF_ESP=0.00015;AF_EXAC=0.00003;ALLELEID=46528;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339907T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1815563;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358776 13 32339908 184063 C T . . AF_TGP=0.00020;ALLELEID=183860;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32339908C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=573514896 13 32339908 266881 CGTTTGTG C . . ALLELEID=261301;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339909_32339915del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040596 13 32339909 280750 G GT . . ALLELEID=264668;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339912dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:7128403;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782011 13 32339909 141788 GT G . . ALLELEID=151502;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339912del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913069;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782011 13 32339911 51879 TTG T . . ALLELEID=66547;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339913GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507787 13 32339919 254559 C A . . ALLELEID=248993;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339919C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038125 13 32339923 51881 TGAAAC T . . AF_EXAC=0.00001;ALLELEID=66549;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339924_32339928del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4295612;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507788 13 32339924 51880 G T . . ALLELEID=66548;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339924G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289606;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358778 13 32339928 37975 CAATT C . . ALLELEID=46531;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339931_32339934del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5803&base_change%3Ddel_ATTA|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:111621|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2461852|Breast_Cancer_Information_Core__(BRCA2):5804&base_change%3Ddel_TTAA|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289624|Invitae:253293|Genologica_Medica:GNL0045;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359520 13 32339930 37976 AT A . . ALLELEID=46532;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339932del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507355 13 32339931 51882 TTAAA T . . ALLELEID=66550;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339932_32339935del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5805&base_change%3Ddel_TAAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359522 13 32339932 51884 T TA . . ALLELEID=66552;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339938dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507790 13 32339932 141989 TA T . . ALLELEID=151703;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339938del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507790 13 32339932 266882 TAAAA T . . ALLELEID=261302;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339935_32339938del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:11756943;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507790 13 32339933 96823 A T . . ALLELEID=102726;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339933A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=431825332 13 32339934 51883 AAAAAG A . . ALLELEID=66551;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339935_32339939del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507789 13 32339937 91418 AAGTG A . . ALLELEID=96895;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339939_32339942del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:7555857;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122535 13 32339939 51885 GTGAA G . . ALLELEID=66553;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339940_32339943del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5813&base_change%3Ddel_TGAA|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:204922;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359523 13 32339943 266883 AAG A . . ALLELEID=261303;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339945_32339946del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040598 13 32339943 252840 AAGAC A . . ALLELEID=247241;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339945_32339948del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5892562;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255460 13 32339945 51886 GAC G . . ALLELEID=66554;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339947_32339948del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507791 13 32339947 422453 CA C . . ALLELEID=408930;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339948del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795789 13 32339947 37977 CAT C . . ALLELEID=46533;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339948AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2674749|Breast_Cancer_Information_Core__(BRCA2):5823&base_change%3Ddel_AT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359524 13 32339950 208421 AT C . . ALLELEID=204644;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339950_32339951delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797044987 13 32339953 37978 TACAG T . . ALLELEID=46534;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339954ACAG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507356 13 32339957 254560 GAC G . . ALLELEID=248994;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32339959_32339960del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=773229361 13 32339961 548416 G GC . . ALLELEID=538704;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339961_32339962insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284298 13 32339961 266884 G GT . . ALLELEID=261304;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339964dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040599 13 32339964 51890 TC AG . . ALLELEID=66558;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:ORPHA289539|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Tumor_susceptibility_linked_to_germline_BAP1_mutations|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339964_32339965delinsAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Fanconi_Anaemia_Mutation_Database_(FANCD1_-_BRCA2):BRCA2_001645|OMIM_Allelic_Variant:600185.0021;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174859 13 32339965 51892 CAGTAA C . . ALLELEID=66560;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32339966AGTAA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1045457|Breast_Cancer_Information_Core__(BRCA2):5844&base_change%3Ddel_AGTAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359525 13 32339969 37979 A T . . ALLELEID=46535;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339969A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289654;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358783 13 32339972 37980 GTAAT G . . ALLELEID=46536;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339976_32339979del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5849&base_change%3Ddel_TTAA|Invitae:668037;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359526 13 32339977 51893 TA T . . ALLELEID=66561;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339979del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3442794;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507792 13 32339978 266885 A T . . ALLELEID=261305;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32339978A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040600 13 32339981 51894 G T . . ALLELEID=66562;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339981G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507793 13 32339981 233780 GA G . . ALLELEID=234846;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32339985del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660636 13 32339985 37981 AC A . . AF_EXAC=0.00001;ALLELEID=46537;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339986del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507357 13 32339986 184553 C T . . AF_ESP=0.00008;ALLELEID=183863;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32339986C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374326934 13 32339989 37983 C G . . ALLELEID=46539;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339989C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358784 13 32339989 184090 C T . . ALLELEID=183864;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339989C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2607159|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2346606;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358784 13 32339990 185961 G T . . ALLELEID=183865;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32339990G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830528;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=55996097 13 32339992 51897 GAATA G . . ALLELEID=66565;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32339996_32339999del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913081|Breast_Cancer_Information_Core__(BRCA2):5869&base_change%3Ddel_4;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174860 13 32339995 51896 T G . . AF_ESP=0.00315;AF_EXAC=0.00076;AF_TGP=0.00220;ALLELEID=66564;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32339995T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:629694|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17018|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289672;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=11571657 13 32339996 254561 AAATC A . . ALLELEID=248995;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32339999_32340002del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1118309;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284326 13 32340000 37984 C A . . AF_EXAC=0.00002;ALLELEID=46540;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:C4763838|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Breast_neoplasm|Malignant_tumor_of_prostate|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Metastatic_Prostate_Small_Cell_Carcinoma|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340000C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834646|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289678|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2273423;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358785 13 32340000 548378 C CA . . ALLELEID=538705;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340005dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284330 13 32340000 9346 C G . . ALLELEID=24385;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Medulloblastoma|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340000C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600185.0031|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289684;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358785 13 32340001 427535 A G . . AF_EXAC=0.00002;ALLELEID=416323;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340001A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755703024 13 32340001 51898 AAAAATTTGCC A . . ALLELEID=66566;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340005_32340014del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507794 13 32340005 266887 A AT . . ALLELEID=261307;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340008dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040602 13 32340005 409491 AT A . . ALLELEID=399804;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340008del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040602 13 32340006 266886 T TA . . ALLELEID=261306;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340006_32340007insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289690;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040601 13 32340007 187088 T C . . AF_EXAC=0.00001;ALLELEID=183866;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340007T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766067138 13 32340009 254562 G GCC . . ALLELEID=248996;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340010_32340011dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5883&base_change%3Dins_CC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174861 13 32340010 37985 C A . . ALLELEID=46541;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340010C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289696;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358789 13 32340011 51900 C T . . ALLELEID=66568;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340011C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_784|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289702;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358790 13 32340016 51902 G A . . ALLELEID=66570;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340016G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359793 13 32340016 51905 GA G . . ALLELEID=66573;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340020del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507796 13 32340022 233291 TATGGC T . . ALLELEID=234848;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340024_32340028del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660311 13 32340031 427244 T G . . AF_EXAC=0.00799;ALLELEID=416324;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340031T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=745902915 13 32340031 548351 T TA . . ALLELEID=538706;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340031_32340032insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284348 13 32340032 266889 T TA . . ALLELEID=261308;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340032_32340033insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040604 13 32340035 37988 T TA . . ALLELEID=46544;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32340036dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_205|Invitae:294843|Breast_Cancer_Information_Core__(BRCA2):5909&base_change%3Dins_A;GENEINFO=BRCA2:675;ORIGIN=1;RS=80359527 13 32340037 126072 C A . . ALLELEID=131610;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340037C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289726|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830689;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=41293497 13 32340037 37989 C G . . AF_ESP=0.00008;ALLELEID=46545;CLNDISDB=Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MedGen:C0040588,OMIM:189960,Orphanet:ORPHA1199|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Tracheoesophageal_fistula|Medulloblastoma|Malignant_tumor_of_prostate|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_cancer|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340037C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723307|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462142|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289732|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2377269|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_66;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=41293497 13 32340037 135806 C T . . AF_EXAC=0.00002;ALLELEID=139518;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340037C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41293497 13 32340040 427493 G A . . AF_EXAC=0.00001;ALLELEID=416325;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340040G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749491255 13 32340043 184134 A G . . AF_EXAC=0.00002;ALLELEID=183870;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340043A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=768907899 13 32340045 91423 TG T . . ALLELEID=96900;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340047del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1244030;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122539 13 32340051 266892 ATTCAGAGGATATTC A . . ALLELEID=261309;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340056_32340069del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040607 13 32340052 187227 T C . . ALLELEID=183871;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340052T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203565 13 32340054 51910 C A . . ALLELEID=66578;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340054C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507797 13 32340054 234187 C G . . ALLELEID=234852;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340054C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507797 13 32340054 51911 CAG C . . ALLELEID=66579;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340055AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:3912376|Breast_Cancer_Information_Core__(BRCA2):5930&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359528 13 32340055 427426 A C . . ALLELEID=416326;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340055A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881591 13 32340055 182289 A G . . ALLELEID=180622;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340055A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2833240;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881591 13 32340059 51912 G A . . AF_ESP=0.00631;AF_EXAC=0.00166;AF_TGP=0.00619;ALLELEID=66580;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340059G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:546308|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17019;GENEINFO=BRCA2:675;ORIGIN=1;RS=4987048 13 32340065 37990 C G . . AF_ESP=0.00015;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=46546;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340065C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2531051|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2436997;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55875643 13 32340069 143024 A AT . . ALLELEID=152738;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340070dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782901 13 32340071 51914 AAC A . . ALLELEID=66582;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340072_32340073del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):5945&base_change%3Ddel_AC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359529 13 32340072 431321 AC A . . ALLELEID=424752;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340073del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401910 13 32340072 9320 ACT A . . ALLELEID=24359;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340073CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:189213|Breast_Cancer_Information_Core__(BRCA2):5946&base_change%3Ddel_CT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2219040|OMIM_Allelic_Variant:600185.0004|Breast_Cancer_Information_Core__(BRCA2):5950&base_change%3Ddel_CT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359530 13 32340072 254563 ACTCT A . . ALLELEID=248997;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340073CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2681171|Breast_Cancer_Information_Core__(BRCA2):5946&base_change%3Ddel_CTCT;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359530 13 32340077 266893 CTA C . . ALLELEID=261310;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340078_32340079del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040608 13 32340077 193789 CTAGAT C . . ALLELEID=190952;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340078_32340082del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=794727014 13 32340078 51916 TA T . . ALLELEID=66584;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340079del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4285516|Breast_Cancer_Information_Core__(BRCA2):5952&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359532 13 32340079 230374 A G . . ALLELEID=234855;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340079A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658533 13 32340088 187375 T C . . ALLELEID=183874;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340088T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367823201 13 32340089 51923 G T . . ALLELEID=66591;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340089G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507800 13 32340094 51924 T A . . ALLELEID=66592;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340094T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507801 13 32340099 41556 C T . . AF_ESP=0.02114;AF_EXAC=0.01790;AF_TGP=0.00859;ALLELEID=49995;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340099C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724520|HGMD:CM010170|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459920|Illumina_Laboratory_Services,Illumina:12116|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14554;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4987117 13 32340100 184017 G A . . AF_EXAC=0.00003;AF_TGP=0.00040;ALLELEID=183875;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340100G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850921;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1799953 13 32340100 230884 G T . . ALLELEID=234857;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340100G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1799953 13 32340105 266894 C A . . ALLELEID=261311;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340105C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040609 13 32340107 51927 C T . . AF_EXAC=0.00004;ALLELEID=66595;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340107C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2659720|Illumina_Laboratory_Services,Illumina:864588;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358803 13 32340107 51929 CAT C . . ALLELEID=66597;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340109_32340110del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913096;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507803 13 32340108 51928 A G . . AF_EXAC=0.00003;ALLELEID=66596;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340108A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358804 13 32340113 51931 G GT . . ALLELEID=66599;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32340118dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4004269|Breast_Cancer_Information_Core__(BRCA2):5991&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359534 13 32340113 185292 GT G . . ALLELEID=183876;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340118del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1788072;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359534 13 32340121 185500 T C . . ALLELEID=183877;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340121T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202224 13 32340123 37995 A C . . AF_ESP=0.00100;AF_TGP=0.00020;ALLELEID=46551;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340123A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:202944;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=45491005 13 32340123 51932 ACATT A . . ALLELEID=66600;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340126_32340129del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913098|Breast_Cancer_Information_Core__(BRCA2):5999&base_change%3Ddel_TTCA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359535 13 32340124 215609 C T . . ALLELEID=213056;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340124C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224309 13 32340128 51933 C T . . AF_EXAC=0.00001;ALLELEID=66601;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340128C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289780;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358806 13 32340128 51934 CAGAG C . . ALLELEID=66602;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340129_32340132del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507804 13 32340131 51935 AGT A . . ALLELEID=66603;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340133_32340134del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3042375|Breast_Cancer_Information_Core__(BRCA2):6006&base_change%3Ddel_TG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359536 13 32340132 254564 GT G . . ALLELEID=248998;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340133del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038130 13 32340133 427456 T C . . AF_EXAC=0.00001;ALLELEID=416327;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340133T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772324268 13 32340134 254565 G T . . ALLELEID=248999;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340134G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038131 13 32340137 37996 G T . . ALLELEID=46552;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340137G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289792;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=56253082 13 32340140 37997 A G . . AF_ESP=0.00008;AF_EXAC=0.00096;AF_TGP=0.00140;ALLELEID=46553;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified;CLNHGVS=NC_000013.11:g.32340140A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459934|Illumina_Laboratory_Services,Illumina:158873|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:110873;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=79538375 13 32340140 51938 AT A . . ALLELEID=66606;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340144del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913101;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507806 13 32340142 185956 T C . . AF_EXAC=0.00001;ALLELEID=183879;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340142T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=765881070 13 32340144 51937 T A . . ALLELEID=66605;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340144T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507805 13 32340144 441453 T G . . ALLELEID=435026;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340144T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507805 13 32340146 51939 C T . . ALLELEID=66607;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32340146C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358807 13 32340148 184732 A G . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=183881;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340148A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2839408;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371682489 13 32340149 51940 CAT C . . ALLELEID=66608;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340151_32340152del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6024&base_change%3Ddel_TA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359537 13 32340151 37998 TAACC T . . ALLELEID=46554;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340154_32340157del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2406715|Breast_Cancer_Information_Core__(BRCA2):6027&base_change%3Ddel_CCAA|Invitae:137363;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359538 13 32340153 51941 ACC A . . ALLELEID=66609;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340154_32340155del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507807 13 32340155 266895 C T . . ALLELEID=261312;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340155C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040610 13 32340161 266896 ATGTC A . . ALLELEID=261313;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340164_32340167del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5932167;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040611 13 32340165 266897 CTG C . . ALLELEID=261314;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340166_32340167del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040612 13 32340173 51944 GAGAAAGTTTCTAAA G . . ALLELEID=66612;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340175_32340188del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6048&base_change%3Ddel_14;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359539 13 32340175 51945 GA G . . ALLELEID=66613;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340178del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6051&base_change%3Ddel_A|OMIM_Allelic_Variant:600185.0015;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359540 13 32340182 37999 TC T . . AF_ESP=0.00008;ALLELEID=46555;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000013.11:g.32340183del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6056&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359541 13 32340183 51946 CTA C . . ALLELEID=66614;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340184_32340185del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507808 13 32340184 427375 T A . . ALLELEID=416328;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340184T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692110 13 32340188 548401 A AG . . ALLELEID=538707;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340188_32340189insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284417 13 32340188 266898 A ATATCACCT . . ALLELEID=261315;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340190_32340197dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040613 13 32340189 266899 T TA . . ALLELEID=261316;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340190dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040614 13 32340189 51947 T TATCACCTTG . . ALLELEID=66615;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340190_32340198dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507809 13 32340191 51949 T TA . . ALLELEID=66617;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340191_32340192insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6064&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359542 13 32340195 91426 CT C . . ALLELEID=96903;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340197del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122541 13 32340196 427466 T C . . AF_EXAC=0.00001;ALLELEID=416329;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340196T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751397718 13 32340200 441475 GA G . . ALLELEID=435027;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340201del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284423 13 32340202 51951 T TGTTA . . ALLELEID=66619;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340206_32340209dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4913113;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359543 13 32340202 38001 TGTTA T . . ALLELEID=46557;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340206_32340209del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:773295|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:166747|Breast_Cancer_Information_Core__(BRCA2):6079&base_change%3Ddel_AGTT|Breast_Cancer_Information_Core__(BRCA2):6076&base_change%3Ddel_GTTA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359543 13 32340208 266901 T TTTAG . . ALLELEID=261317;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340210_32340211insAGTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040616 13 32340210 38002 T A . . AF_ESP=0.00008;ALLELEID=46558;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340210T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=375064902 13 32340210 51953 TG T . . ALLELEID=66621;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340212del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6085&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359545 13 32340212 51952 G T . . AF_EXAC=0.00001;ALLELEID=66620;CLNDISDB=Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MedGen:C0040588,OMIM:189960,Orphanet:ORPHA1199|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN239275|MedGen:CN517202;CLNDN=Tracheoesophageal_fistula|Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|BRCA2-Related_Disorders|not_provided;CLNHGVS=NC_000013.11:g.32340212G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289834|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2251952|Illumina_Laboratory_Services,Illumina:779121|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2607260|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723324;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358814 13 32340216 126082 CT C . . ALLELEID=131620;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340218del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6091&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359546 13 32340216 186109 CTT C . . ALLELEID=183884;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340217_32340218del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202700 13 32340219 51954 C A . . AF_EXAC=0.00001;ALLELEID=66622;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340219C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289846|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723342|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:149213;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358815 13 32340219 51955 C G . . ALLELEID=66623;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340219C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358815 13 32340235 186232 T C . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=183885;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340235T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368055906 13 32340244 254566 GA G . . ALLELEID=249000;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340246del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6118&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174864 13 32340250 184463 T C . . ALLELEID=183886;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340250T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201478 13 32340252 51962 AT A . . ALLELEID=66630;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340253del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507811 13 32340254 51963 AAGTC A . . ALLELEID=66631;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340255AGTC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6132&base_change%3Ddel_AGTC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359547 13 32340256 427440 G A . . AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=416330;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340256G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=556893517 13 32340258 266902 C CA . . ALLELEID=261318;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340259dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040617 13 32340262 184344 C G . . ALLELEID=183887;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340262C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201413 13 32340264 38007 C A . . ALLELEID=46563;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340264C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2778908|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289864|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723358|Broad_Institute_Rare_Disease_Group,_Broad_Institute:bde508a8-9ffd-445e-b033-7251409d008b;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358824 13 32340265 232447 A G . . ALLELEID=234859;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340265A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659771 13 32340265 441471 AT A . . ALLELEID=435029;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340266del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284457 13 32340266 441293 TC T . . ALLELEID=435030;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340267del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284458 13 32340268 232126 T C . . AF_EXAC=0.00001;ALLELEID=234860;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340268T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751308094 13 32340270 266903 CA C . . ALLELEID=261319;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340273del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040618 13 32340273 266904 AT A . . ALLELEID=261320;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340274del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040619 13 32340274 187728 T C . . AF_EXAC=0.00001;ALLELEID=183888;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340274T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761612343 13 32340277 184515 T C . . ALLELEID=183889;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340277T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201515 13 32340280 51964 T A . . ALLELEID=66632;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340280T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358825 13 32340280 427537 T C . . AF_EXAC=0.00001;ALLELEID=416331;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340280T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358825 13 32340283 184080 G T . . AF_EXAC=0.00002;ALLELEID=183890;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340283G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752858082 13 32340284 184841 A AT . . ALLELEID=183892;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340289dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6158&base_change%3Dins_T|Invitae:2593231;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359548 13 32340289 184827 T C . . AF_EXAC=0.00001;ALLELEID=183891;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340289T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758505680 13 32340290 254567 A AT . . ALLELEID=249001;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340290_32340291insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038133 13 32340297 51967 CA C . . ALLELEID=66635;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340299del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=796460349 13 32340299 51968 A AG . . ALLELEID=66636;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340300dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507812 13 32340300 9325 GT G . . AF_ESP=0.00016;AF_EXAC=0.00027;ALLELEID=24364;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN235283|MedGen:CN239275|MedGen:CN517202;CLNDN=Breast_neoplasm|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|none_provided|BRCA2-Related_Disorders|not_provided;CLNHGVS=NC_000013.11:g.32340301del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:600185.0009|Illumina_Laboratory_Services,Illumina:776850|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:21724|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_18601_14395|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2386465|OMIM_Allelic_Variant:600185.0005|Breast_Cancer_Information_Core__(BRCA2):6174&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359550 13 32340300 51969 GTGGA G . . ALLELEID=66637;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340301_32340304del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6174&base_change%3Ddel_TGGA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359549 13 32340300 51970 GTGGAA G . . ALLELEID=66638;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340301_32340305del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507813 13 32340301 266906 TG T . . ALLELEID=261321;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340303del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040621 13 32340303 51971 G GA . . ALLELEID=66639;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340307dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507814 13 32340304 427395 A G . . ALLELEID=416332;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340304A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692122 13 32340307 184859 A G . . ALLELEID=183893;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340307A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201742 13 32340307 51972 ATC A . . ALLELEID=66640;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340309_32340310del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6181&base_change%3Ddel_TC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359551 13 32340314 51973 C T . . ALLELEID=66641;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340314C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289888;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358828 13 32340315 234818 AG A . . ALLELEID=231884;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340317del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876661236 13 32340317 51975 GTA G . . ALLELEID=66643;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340319_32340320del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507817 13 32340320 266909 T TC . . ALLELEID=261323;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340321dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040623 13 32340321 254568 C A . . ALLELEID=249002;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340321C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038134 13 32340321 51976 C CA . . ALLELEID=66644;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340322dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6195&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174865 13 32340321 266908 C G . . ALLELEID=261322;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340321C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038134 13 32340321 51977 CAG C . . ALLELEID=66645;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340323_32340324del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6196&base_change%3Ddel_GA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359552 13 32340323 254569 GA G . . ALLELEID=249003;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340324del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038135 13 32340328 233858 T G . . ALLELEID=234861;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340328T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660687 13 32340330 266910 C G . . ALLELEID=261324;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340330C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358830 13 32340331 225746 A G . . AF_EXAC=0.00001;ALLELEID=227539;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340331A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2539585;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748854546 13 32340333 254570 T G . . AF_EXAC=0.00001;ALLELEID=249004;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340333T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289894;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=768242833 13 32340334 231527 A G . . AF_EXAC=0.00001;ALLELEID=234862;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340334A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773999877 13 32340335 51981 C CA . . ALLELEID=66649;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340339dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507818 13 32340335 38011 C T . . ALLELEID=46567;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32340335C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847209;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358831 13 32340340 266911 C CA . . ALLELEID=261325;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340340_32340341insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040624 13 32340340 184341 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=183894;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340340C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2137036|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2609767;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374620036 13 32340343 229654 A G . . AF_EXAC=0.00001;ALLELEID=234863;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340343A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773045221 13 32340347 51983 C T . . ALLELEID=66651;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340347C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:165254;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507819 13 32340347 266912 CA C . . ALLELEID=261326;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340349del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040625 13 32340347 254571 CAA C . . ALLELEID=249005;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340348_32340349del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038136 13 32340349 427458 A G . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416333;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340349A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=554663691 13 32340350 548335 G GT . . ALLELEID=538708;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340351dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284495 13 32340352 51986 GT G . . ALLELEID=66654;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6229&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359553 13 32340361 38013 AATAGAAG A . . ALLELEID=46569;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340366_32340372del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507362 13 32340362 254572 AT A . . ALLELEID=249006;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340363del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038137 13 32340363 266913 TAGAAG T . . ALLELEID=261327;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340365_32340369del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=761799851 13 32340365 266914 GAAGAT G . . ALLELEID=261328;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340367_32340371del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040627 13 32340366 373822 AAGAT A . . ALLELEID=360714;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340369_32340372del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913137;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057518635 13 32340367 184354 A G . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=183897;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340367A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=572976024 13 32340370 266915 TAGTA T . . ALLELEID=261329;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340371_32340374del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040628 13 32340372 91434 G GTA . . ALLELEID=96911;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340373_32340374dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122545 13 32340377 216029 A T . . ALLELEID=213058;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340377A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=863224467 13 32340378 38015 A AG . . ALLELEID=46571;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340379dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6252&base_change%3Dins_G|Invitae:279407|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2591903;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359554 13 32340380 51990 C T . . ALLELEID=66658;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340380C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850134;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358838 13 32340382 427374 A G . . ALLELEID=416334;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340382A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692109 13 32340385 229735 C A . . ALLELEID=234866;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32340385C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201328 13 32340385 440429 C CT . . AF_EXAC=0.00001;ALLELEID=434063;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340389dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507823 13 32340385 184197 C T . . ALLELEID=183898;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340385C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850318;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201328 13 32340385 427240 CT C . . ALLELEID=416225;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340389del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6820470;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507823 13 32340385 51993 CTT C . . ALLELEID=66661;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340388_32340389del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3428391;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507823 13 32340386 548330 T TTG . . ALLELEID=538709;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340387_32340388insGT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284507 13 32340387 51994 T TTG . . ALLELEID=66662;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340388_32340389insGT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507824 13 32340389 441327 TC T . . ALLELEID=435031;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340391del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284508 13 32340391 233786 CA C . . ALLELEID=234868;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340394del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;ORIGIN=1;RS=876660637 13 32340392 38016 A T . . ALLELEID=46572;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340392A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289912|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2535802|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:132962;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358840 13 32340399 156172 T A . . ALLELEID=165971;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32340399T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587776468 13 32340400 266916 GT G . . ALLELEID=261330;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340403del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040629 13 32340404 266917 A T . . ALLELEID=261331;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340404A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040630 13 32340406 266918 AAG A . . ALLELEID=261332;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340407_32340408del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040631 13 32340409 220395 T C . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=222322;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32340409T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=540799830 13 32340412 136562 C T . . AF_ESP=0.00146;AF_TGP=0.00240;ALLELEID=140265;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340412C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:78158;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147961615 13 32340413 51996 G T . . ALLELEID=66664;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340413G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358842 13 32340413 91435 GAACA G . . ALLELEID=96912;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340414_32340417del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122546 13 32340414 51997 AACAT A . . ALLELEID=66665;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340415_32340418del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507825 13 32340418 266919 TTCAGACCAGC T . . ALLELEID=261333;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340422_32340431del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040632 13 32340419 51999 TCAGAC T . . ALLELEID=66667;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340423_32340427del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6296&base_change%3Ddel_ACCAG|Invitae:4913143;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359555 13 32340420 51998 C G . . AF_EXAC=0.00001;ALLELEID=66666;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340420C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358843 13 32340425 52000 C T . . ALLELEID=66668;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340425C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358844 13 32340425 52002 CA C . . ALLELEID=66670;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340426del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6299&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359556 13 32340427 409513 GCT G . . ALLELEID=400038;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340429_32340430del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502444 13 32340432 52005 C CA . . ALLELEID=66673;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340434dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1892470;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507826 13 32340432 52003 CAA C . . ALLELEID=66671;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340433_32340434del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6306&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359557 13 32340432 52007 CAAGAG C . . ALLELEID=66675;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340437_32340441del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1762791|Breast_Cancer_Information_Core__(BRCA2):6310&base_change%3Ddel_GAAGA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359558 13 32340433 184216 A G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=183900;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340433A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375649375 13 32340433 266921 AAG A . . ALLELEID=261335;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340435GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040634 13 32340435 266920 G GA . . ALLELEID=261334;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340436dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040633 13 32340437 52006 G T . . ALLELEID=66674;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340437G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507827 13 32340437 266922 GAAGAA G . . ALLELEID=261336;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340440_32340444del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040635 13 32340439 427547 A G . . AF_EXAC=0.00002;ALLELEID=416335;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340439A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747773227 13 32340440 52008 G T . . ALLELEID=66676;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340440G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507828 13 32340445 142787 T TA . . ALLELEID=152501;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340446dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782717 13 32340446 254573 AC A . . ALLELEID=249007;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340447del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038138 13 32340450 52010 C CT . . ALLELEID=66678;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340451dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507829 13 32340452 126089 A AT . . ALLELEID=131627;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340453dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6325&base_change%3Dins_T;GENEINFO=BRCA2:675;ORIGIN=3;RS=1555284549 13 32340453 266923 TA T . . ALLELEID=261337;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340454del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040636 13 32340455 41558 C T . . AF_ESP=0.00400;AF_EXAC=0.00325;AF_TGP=0.00140;ALLELEID=49997;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340455C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:68260|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA2_c.6100C>T|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459947|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:49135|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723376|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_528;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1799954 13 32340457 52013 TA T . . ALLELEID=66681;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340458del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6331&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359559 13 32340461 254574 CCAGAA C . . ALLELEID=249008;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340464_32340468del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038139 13 32340469 187268 T C . . ALLELEID=183904;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340469T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203600 13 32340475 229875 A C . . ALLELEID=234871;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340475A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587781539 13 32340479 52018 C CA . . ALLELEID=66686;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340484dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2362485|Breast_Cancer_Information_Core__(BRCA2):6357&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359561 13 32340479 52017 C T . . AF_EXAC=0.00001;ALLELEID=66685;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340479C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358851 13 32340479 266924 CA C . . ALLELEID=261338;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340484del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359561 13 32340487 427380 C T . . ALLELEID=416336;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340487C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057520745 13 32340487 254575 CT C . . ALLELEID=249009;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340491del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038140 13 32340491 266926 TCA T . . ALLELEID=261339;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340492_32340493del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040638 13 32340498 38022 A T . . ALLELEID=46578;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340498A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:138234|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2609772;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358853 13 32340499 548425 T TA . . ALLELEID=538710;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340499_32340500insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284562 13 32340499 266927 TG T . . ALLELEID=261340;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340500del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040639 13 32340504 254576 TA T . . ALLELEID=249010;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340507del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038141 13 32340507 52020 AT A . . ALLELEID=66688;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340509del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6382&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359562 13 32340510 185793 C A . . ALLELEID=183905;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340510C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840403;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202461 13 32340510 266928 C G . . ALLELEID=261341;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340510C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852029;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202461 13 32340511 230068 A G . . ALLELEID=234872;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340511A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658366 13 32340516 548380 C CT . . ALLELEID=538711;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340519dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507831 13 32340516 52022 CT C . . ALLELEID=66690;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340519del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507831 13 32340524 52023 G T . . ALLELEID=66691;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340524G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358856 13 32340526 188434 AT A . . ALLELEID=186450;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340529del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204278 13 32340532 52025 TA T . . ALLELEID=66693;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340533del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6406&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359563 13 32340547 185993 G A . . ALLELEID=183907;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340547G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202616 13 32340551 266929 GT G . . ALLELEID=261342;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340554del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359564 13 32340551 52027 GTT G . . ALLELEID=66695;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340553_32340554del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6426&base_change%3Ddel_TT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359564 13 32340554 52029 TC T . . ALLELEID=66697;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340556del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913166|Breast_Cancer_Information_Core__(BRCA2):6429&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359565 13 32340556 231247 C A . . ALLELEID=234875;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340556C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659049 13 32340556 52030 C CA . . ALLELEID=66698;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340557dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2805868;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507833 13 32340557 52031 AT A . . ALLELEID=66699;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340561del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507834 13 32340558 126091 T TA . . ALLELEID=131629;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340558_32340559insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6431&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:289996;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359566 13 32340561 38026 T G . . ALLELEID=46582;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340561T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843322|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290002;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358859 13 32340561 52032 TAGAA T . . ALLELEID=66700;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340564_32340567del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6437&base_change%3Ddel_AAAG|Invitae:1452179;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174866 13 32340563 96834 GA G . . ALLELEID=102737;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340566del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825338 13 32340569 52035 TC T . . ALLELEID=66703;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340571del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6444&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359567 13 32340571 184339 C G . . ALLELEID=183908;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340571C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201410 13 32340571 184468 C T . . ALLELEID=183909;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32340571C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201410 13 32340573 126093 T TA . . ALLELEID=131631;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340574dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6447&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359568 13 32340574 409450 AC A . . ALLELEID=399837;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340575del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502400 13 32340575 38028 C A . . AF_ESP=0.00346;AF_TGP=0.00280;ALLELEID=46584;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|not_specified|Breast_and/or_ovarian_cancer|none_provided;CLNHGVS=NC_000013.11:g.32340575C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:109288|HGMD:CM012589|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290008|Illumina_Laboratory_Services,Illumina:825120;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34309943 13 32340575 52036 CAC AA . . ALLELEID=66704;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340575_32340577delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6448&base_change%3Ddel_CAC_ins_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174867 13 32340577 266930 C CA . . ALLELEID=261343;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340580dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040641 13 32340579 142889 AAGTT A . . ALLELEID=152603;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340581_32340584del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782799 13 32340585 236888 A AG . . ALLELEID=241696;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340588dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853595 13 32340589 52037 AG A . . ALLELEID=66705;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340590del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507835 13 32340592 220413 G A . . ALLELEID=222325;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia;CLNHGVS=NC_000013.11:g.32340592G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:504908;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622516 13 32340592 236889 G C . . ALLELEID=241697;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340592G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622516 13 32340592 254577 GT G . . ALLELEID=249011;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340594del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6466&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359569 13 32340594 52039 T G . . ALLELEID=66707;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340594T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358864 13 32340594 52041 T TA . . ALLELEID=66709;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340595dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6468&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359570 13 32340599 266931 G T . . ALLELEID=261344;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340599G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040642 13 32340599 266932 GA G . . ALLELEID=261345;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340601del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040643 13 32340609 219426 T G . . ALLELEID=222326;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340609T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=864622082 13 32340612 266933 TCAGA T . . ALLELEID=261346;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340613_32340616del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040644 13 32340614 266934 AGAAC A . . ALLELEID=261347;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340615_32340618del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040645 13 32340615 266935 GA G . . ALLELEID=261348;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340617del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040646 13 32340617 420701 AC A . . ALLELEID=408943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340618del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794647 13 32340619 219757 T C . . AF_EXAC=0.00007;ALLELEID=222327;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340619T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2685091;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750651726 13 32340621 182318 A AGCAT . . ALLELEID=180628;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340622_32340625dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=730881611 13 32340621 266936 AGC A . . ALLELEID=261349;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340622_32340623del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040647 13 32340621 230167 AGCATAGTC A . . ALLELEID=234878;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340622_32340629del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658425 13 32340622 38029 GCA C . . ALLELEID=46585;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340622_32340624delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1205|Breast_Cancer_Information_Core__(BRCA2):6495&base_change%3Ddel_GCA_ins_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174868 13 32340622 52042 GCA G . . ALLELEID=66710;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340623_32340624del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507836 13 32340623 52043 CAT C . . ALLELEID=66711;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340625_32340626del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913182|Breast_Cancer_Information_Core__(BRCA2):6498&base_change%3Ddel_TA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359571 13 32340627 548326 G GA . . ALLELEID=538712;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340627_32340628insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284618 13 32340629 52044 CT C . . ALLELEID=66712;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340631del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507837 13 32340629 9318 CTT C . . AF_EXAC=0.00002;ALLELEID=24357;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340630_32340631del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:51021|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2209640|Breast_Cancer_Information_Core__(BRCA2):6503&base_change%3Ddel_TT|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_820|OMIM_Allelic_Variant:600185.0002;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=11571658 13 32340629 52045 CTTCACTA C . . ALLELEID=66713;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340635_32340641del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6508&base_change%3Ddel_TATTCAC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359572 13 32340631 254578 T TC . . ALLELEID=249012;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340632dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038143 13 32340633 52047 ACTATTCAC A . . ALLELEID=66715;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340637_32340644del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6510&base_change%3Ddel_TTCACCTA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359573 13 32340643 427411 T G . . AF_ESP=0.00008;ALLELEID=416337;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340643T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372527810 13 32340645 38032 C T . . AF_ESP=0.00015;AF_EXAC=0.00012;ALLELEID=46588;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340645C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2421523;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358866 13 32340646 185754 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=183911;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340646G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369340015 13 32340653 52050 CA C . . ALLELEID=66718;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340657del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507839 13 32340657 266937 ATG A . . ALLELEID=261350;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340659_32340660del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6508091;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040648 13 32340659 441299 G GT . . ALLELEID=435034;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340660dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284628 13 32340663 52052 C A . . ALLELEID=66720;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340663C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2849949;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358870 13 32340663 141213 C G . . ALLELEID=150927;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340663C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358870 13 32340663 266938 CA C . . ALLELEID=261351;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340668del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040649 13 32340670 91443 A C . . ALLELEID=96920;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340670A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=398122552 13 32340673 266939 TC T . . ALLELEID=261352;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340675del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040650 13 32340677 41559 C T . . AF_ESP=0.00031;AF_EXAC=0.00058;AF_TGP=0.00120;ALLELEID=49998;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340677C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290038|Illumina_Laboratory_Services,Illumina:100746;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55794205 13 32340677 52066 CGT C . . ALLELEID=66734;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340678GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6553&base_change%3Ddel_GT;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174871 13 32340678 38037 G A . . AF_ESP=0.00331;AF_EXAC=0.00128;AF_TGP=0.00379;ALLELEID=46593;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340678G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459982|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:95244|Illumina_Laboratory_Services,Illumina:633836;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35029074 13 32340682 233293 T C . . ALLELEID=234880;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32340682T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660313 13 32340685 232206 T TA . . ALLELEID=234882;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340687dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659617 13 32340685 141068 TAA T . . ALLELEID=150782;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340686_32340687del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781470 13 32340685 38038 TAAGAG T . . ALLELEID=46594;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340688_32340692del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3558387;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507369 13 32340686 52069 AAG A . . ALLELEID=66737;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340688GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6563&base_change%3Ddel_GA|Invitae:1055409;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359574 13 32340693 38039 A G . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=46595;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340693A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358874 13 32340693 266940 ACC A . . ALLELEID=261353;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340695_32340696del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040651 13 32340702 41561 A G . . AF_ESP=0.00354;AF_EXAC=0.00133;AF_TGP=0.00679;ALLELEID=50000;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340702A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:734485|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23620;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55953736 13 32340703 141195 C CT . . ALLELEID=150909;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340704dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781566 13 32340703 52071 CTG C . . ALLELEID=66739;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340705GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6580&base_change%3Ddel_GT|Invitae:828955;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359576 13 32340705 52072 GTGTAAACTCAGAAA G . . ALLELEID=66740;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340708_32340721del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507844 13 32340706 231792 T A . . ALLELEID=234884;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340706T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876659368 13 32340708 266941 T TA . . ALLELEID=261354;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340711dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040652 13 32340714 52073 C G . . ALLELEID=66741;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340714C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507845 13 32340714 254579 CAG C . . ALLELEID=249013;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340716_32340717del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5892623;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038144 13 32340721 187046 G GGAAA . . ALLELEID=183912;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340722_32340725dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203430 13 32340722 38041 G GA . . ALLELEID=46597;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340728dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6601&base_change%3Dins_A|Invitae:259400;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359577 13 32340722 266942 G GAA . . ALLELEID=261355;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340727_32340728dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359577 13 32340722 52075 GA G . . ALLELEID=66743;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340728del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6601&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359577 13 32340728 438996 AC G . . ALLELEID=432810;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340728_32340729delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=1555284655 13 32340729 126099 C CA . . ALLELEID=131637;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340729_32340730insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6602&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290062;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359579 13 32340733 421570 CA C . . ALLELEID=408948;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340734del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795216 13 32340737 52077 A T . . ALLELEID=66745;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340737A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358875 13 32340740 266943 G T . . ALLELEID=261356;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340740G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=886040653 13 32340742 52079 A AT . . ALLELEID=66747;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340745dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507848 13 32340743 91447 TTTAAA T . . ALLELEID=96924;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340747_32340751del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913199;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122555 13 32340745 254580 TA T . . ALLELEID=249014;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340748del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6234099;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038145 13 32340746 126100 A AT . . ALLELEID=131638;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340746_32340747insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6619&base_change%3Dins_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290068;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359580 13 32340746 52080 AAATT A . . ALLELEID=66748;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340748_32340751del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2995717;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507849 13 32340750 479358 T G . . ALLELEID=476911;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340750T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555284658 13 32340750 266944 T TA . . ALLELEID=261357;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340751dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040654 13 32340751 96838 A AT . . ALLELEID=102741;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340752dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1012558;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825342 13 32340753 52082 CAAAT C . . ALLELEID=66750;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340756_32340759del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6629&base_change%3Ddel_ATAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359583 13 32340756 38043 ATAACT A . . ALLELEID=46599;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:C0346647|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Cancer_of_the_pancreas|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340760_32340764del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6630&base_change%3Ddel_TAACT|Invitae:240683|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2222146|Breast_Cancer_Information_Core__(BRCA2):6633&base_change%3Ddel_CTTAA;GENEINFO=BRCA2:675;ORIGIN=1;RS=80359584 13 32340758 91448 AACTT A . . ALLELEID=96925;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340760_32340763del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122556 13 32340760 52084 CTT C . . ALLELEID=66752;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340761_32340762del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507850 13 32340760 52085 CTTAAA C . . ALLELEID=66753;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340762_32340766del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6635&base_change%3Ddel_TAAAT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359586 13 32340760 52086 CTTAAATG C . . ALLELEID=66754;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C0346647|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Cancer_of_the_pancreas|not_provided;CLNHGVS=NC_000013.11:g.32340763_32340769del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2585057;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507851 13 32340762 254581 T TA . . ALLELEID=249015;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340765dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038146 13 32340762 266945 TA T . . ALLELEID=261358;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340765del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913204;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038146 13 32340772 266946 AG A . . ALLELEID=261359;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340774del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040656 13 32340774 548392 G GA . . ALLELEID=538713;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340774_32340775insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284677 13 32340775 52089 T G . . ALLELEID=66757;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340775T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359794 13 32340775 52090 T TA . . ALLELEID=66758;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340775_32340776insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507852 13 32340775 52091 T TG . . ALLELEID=66759;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340777dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507853 13 32340782 52092 TC T . . ALLELEID=66760;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32340783del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507854 13 32340783 236892 C A . . ALLELEID=241699;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340783C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=149330893 13 32340783 266947 C G . . ALLELEID=261360;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340783C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=149330893 13 32340785 254582 GA G . . ALLELEID=249016;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340789del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6659&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359587 13 32340788 38044 AATAATCAC A . . ALLELEID=46600;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340789_32340796del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507371 13 32340790 184379 T C . . ALLELEID=183914;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340790T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201430 13 32340790 52095 TAATC T . . ALLELEID=66763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340792_32340795del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913211;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507855 13 32340795 52097 ACT A . . ALLELEID=66765;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340796CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4913213|Breast_Cancer_Information_Core__(BRCA2):6671&base_change%3Ddel_CT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359589 13 32340796 232321 C T . . ALLELEID=234887;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32340796C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358879 13 32340798 38046 C CT . . ALLELEID=46602;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340799dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6672&base_change%3Dins_T|Invitae:942054;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359590 13 32340798 91449 CT C . . ALLELEID=96926;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340799del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122557 13 32340798 52100 CTA C . . ALLELEID=66768;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340800_32340801del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2675397|Breast_Cancer_Information_Core__(BRCA2):6673&base_change%3Ddel_AT;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359592 13 32340798 52098 CTATT C . . ALLELEID=66766;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340799_32340802del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6672&base_change%3Ddel_TATT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359591 13 32340799 415692 T C . . AF_EXAC=0.00003;ALLELEID=399437;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340799T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840637;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771131099 13 32340799 52101 TA T . . ALLELEID=66769;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340800del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Veritas_Genetics,Veritas_Genetics:650281;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507856 13 32340799 52102 TATTAA T . . ALLELEID=66770;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340801_32340805del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6674&base_change%3Ddel_TTAAA|Invitae:1124025|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2361933;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359593 13 32340800 266949 AT A . . ALLELEID=261361;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340802del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5892635;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040657 13 32340800 233457 ATT A . . ALLELEID=234888;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340801_32340802del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660421 13 32340801 52104 T TTA . . ALLELEID=66772;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32340802_32340803dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_216|Invitae:3010605;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507858 13 32340801 52103 TTA T . . ALLELEID=66771;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340802_32340803del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507857 13 32340802 52107 T TA . . ALLELEID=66775;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340805dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6678&base_change%3Dins_A|Invitae:1262977;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359594 13 32340802 254583 TA T . . ALLELEID=249017;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340805del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913219;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359594 13 32340802 52105 TAA T . . ALLELEID=66773;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340804_32340805del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6677&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359594 13 32340803 126102 A AAT . . ALLELEID=131640;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340804_32340805insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6677&base_change%3Dins_TA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174872 13 32340810 52108 C A . . AF_EXAC=0.00035;ALLELEID=66776;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340810C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358881 13 32340811 187346 TC T . . ALLELEID=183916;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340813del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913224;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203660 13 32340816 433803 A ATC . . ALLELEID=427398;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340817TC[5];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359596 13 32340816 38047 ATC A . . ALLELEID=46603;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_Colorectal_Neoplasm|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340817TC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6696&base_change%3Ddel_TC|Breast_Cancer_Information_Core__(BRCA2):6690&base_change%3Ddel_TC|Invitae:675462;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359596 13 32340816 252446 ATCTC A . . ALLELEID=246842;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340817TC[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359596 13 32340817 52111 T G . . ALLELEID=66779;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340817T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358883 13 32340820 184876 C T . . AF_EXAC=0.00002;ALLELEID=183917;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340820C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746099644 13 32340824 52112 C T . . ALLELEID=66780;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340824C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507859 13 32340826 438998 A AT . . ALLELEID=432811;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340829dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284710 13 32340826 427447 A G . . AF_EXAC=0.00001;ALLELEID=416338;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340826A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775882736 13 32340830 186784 C T . . ALLELEID=183919;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340830C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122558 13 32340833 266950 C T . . ALLELEID=261362;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340833C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040658 13 32340833 418845 CA C . . ALLELEID=408954;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340835del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793471 13 32340834 265058 AAGAC A . . ALLELEID=260047;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340836_32340839del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2800086;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886039319 13 32340836 38048 GACAA G . . ALLELEID=46604;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340837ACAA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_676|Breast_Cancer_Information_Core__(BRCA2):6714&base_change%3Ddel_ACAA|Invitae:942144|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2270813;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359598 13 32340838 266951 CAA C . . ALLELEID=261363;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340840_32340841del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913226;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040659 13 32340841 427474 A G . . AF_EXAC=0.00002;ALLELEID=416339;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340841A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751023453 13 32340842 91451 C T . . ALLELEID=96928;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340842C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852105;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122559 13 32340844 427435 A G . . AF_EXAC=0.00002;ALLELEID=416340;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340844A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756724277 13 32340844 52115 AC A . . ALLELEID=66783;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340845del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6718&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359599 13 32340845 52113 C T . . ALLELEID=66781;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340845C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507860 13 32340845 431328 CA C . . ALLELEID=424758;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340846del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401914 13 32340845 52114 CAG GACT . . ALLELEID=66782;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340845_32340847delinsGACT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507861 13 32340845 52116 CAGTT C . . ALLELEID=66784;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340846_32340849del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507862 13 32340845 52117 CAGTTG C . . ALLELEID=66785;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340846_32340850del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507863 13 32340847 52118 GT G . . ALLELEID=66786;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340849del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913234|Breast_Cancer_Information_Core__(BRCA2):6722&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174874 13 32340855 266952 T A . . ALLELEID=261364;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340855T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=730881543 13 32340857 266953 G T . . ALLELEID=261365;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32340857G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831691;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040660 13 32340859 427450 A C . . AF_EXAC=0.00001;ALLELEID=416341;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340859A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755877503 13 32340862 266954 C CA . . ALLELEID=261366;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340865dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359600 13 32340862 52119 CAA C . . ALLELEID=66787;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340864_32340865del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6737&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359600 13 32340868 132780 G C . . AF_ESP=0.97547;AF_TGP=0.97364;ALLELEID=136528;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340868G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14191|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460015|Illumina_Laboratory_Services,Illumina:12111;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=206076 13 32340868 182290 G T . . AF_TGP=0.00040;ALLELEID=180630;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340868G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2535287;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=206076 13 32340868 266955 GTC G . . ALLELEID=261367;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32340869_32340870del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040662 13 32340870 266956 C A . . ALLELEID=261368;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340870C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040663 13 32340880 427365 G A . . ALLELEID=416342;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340880G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692100 13 32340880 52120 GA G . . ALLELEID=66788;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340882del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507864 13 32340882 266957 A ACATTCATG . . ALLELEID=261369;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340883_32340890dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;ORIGIN=1;RS=1555284738 13 32340882 52122 ACATT A . . ALLELEID=66790;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340886_32340889del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507865 13 32340883 185694 C T . . ALLELEID=183922;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340883C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202382 13 32340884 266958 A AT . . ALLELEID=261370;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340886dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040664 13 32340886 135810 T A . . AF_EXAC=0.00007;ALLELEID=139522;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340886T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2289993|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2461084;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780658 13 32340886 186052 T C . . ALLELEID=183923;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340886T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780658 13 32340886 224440 T TC . . ALLELEID=226178;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340887dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886037798 13 32340887 266959 C CT . . ALLELEID=261371;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340887_32340888insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284745 13 32340889 427445 T C . . AF_EXAC=0.00001;ALLELEID=416343;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340889T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747048245 13 32340889 548341 T TA . . ALLELEID=538714;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340889_32340890insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284746 13 32340889 126109 T TG . . ALLELEID=131647;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340890dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6763&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284737 13 32340890 38050 G GA . . AF_EXAC=0.00001;ALLELEID=46606;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340890_32340891insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843490|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290176|Breast_Cancer_Information_Core__(BRCA2):6763&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359601 13 32340891 266960 T TA . . ALLELEID=261372;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340891_32340892insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040665 13 32340896 266961 G T . . ALLELEID=261373;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340896G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=371067421 13 32340898 427394 A G . . ALLELEID=416344;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340898A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692121 13 32340902 52125 G T . . ALLELEID=66793;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340902G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_236;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507866 13 32340905 373829 C T . . ALLELEID=360715;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340905C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358887 13 32340906 52127 AG A . . ALLELEID=66795;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340908del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6781&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359603 13 32340912 52128 C A . . ALLELEID=66796;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340912C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507867 13 32340912 266962 C G . . ALLELEID=261374;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340912C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507867 13 32340916 38053 T TA . . ALLELEID=46609;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340921dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:794785;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507373 13 32340916 266963 TA T . . ALLELEID=261375;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340921del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6721241;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507373 13 32340917 233840 AAAAACGT A . . ALLELEID=234896;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340922_32340928del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660676 13 32340922 184483 C T . . AF_EXAC=0.00001;ALLELEID=183925;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340922C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=397507374 13 32340924 409434 TA T . . ALLELEID=400049;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340929del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502392 13 32340926 266964 AAAATGGAAATTGGT A . . ALLELEID=261376;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340930_32340943del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040667 13 32340929 254584 ATGGAAAT A . . ALLELEID=249018;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340933_32340939del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038149 13 32340932 266965 G GA . . ALLELEID=261377;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340935dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040668 13 32340939 266966 G GT . . ALLELEID=261378;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340940dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:9518845;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040669 13 32340940 52130 TA T . . ALLELEID=66798;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340944del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507868 13 32340940 236280 TAA T . . ALLELEID=237822;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340943_32340944del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507868 13 32340941 91453 A T . . ALLELEID=96930;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340941A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122561 13 32340945 126110 CT C . . ALLELEID=131648;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340946del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6819&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359606 13 32340945 9319 CTG C . . ALLELEID=24358;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340946_32340947del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:600185.0003|Breast_Cancer_Information_Core__(BRCA2):6819&base_change%3Ddel_TG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359605 13 32340950 229950 AC A . . ALLELEID=234899;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340951del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658294 13 32340951 52132 CT C . . ALLELEID=66800;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340956del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4618694;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359607 13 32340951 52131 CTT C . . ALLELEID=66799;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32340955_32340956del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6828&base_change%3Ddel_TT|Invitae:541711;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359607 13 32340956 96839 TC T . . ALLELEID=102742;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340957del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825343 13 32340957 52133 CTG C . . ALLELEID=66801;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340958_32340959del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6831&base_change%3Ddel_TG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359608 13 32340958 185938 T C . . ALLELEID=183926;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340958T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842745;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202576 13 32340964 440424 T TC . . ALLELEID=434064;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340966dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401915 13 32340973 427546 A G . . AF_EXAC=0.00001;ALLELEID=416345;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340973A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762439990 13 32340975 254585 CA C . . ALLELEID=249019;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340978del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038150 13 32340977 91454 A AAT . . ALLELEID=96931;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340979TA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359610 13 32340977 52135 AAT A . . ALLELEID=66803;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340979TA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6854&base_change%3Ddel_TA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359610 13 32340979 185287 T C . . ALLELEID=183927;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340979T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202057 13 32340979 266967 T TA . . ALLELEID=261379;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340980dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040670 13 32340980 52136 ATAGAAGTT A . . ALLELEID=66804;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340982_32340989del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507870 13 32340982 215611 A C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=213060;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340982A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147275663 13 32340983 52137 GAA G . . ALLELEID=66805;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340984_32340985del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6857&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359611 13 32340985 52140 AGTTT A . . ALLELEID=66808;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340989_32340992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507871 13 32340988 52139 T C . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=66807;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32340988T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840780;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359795 13 32340988 52141 TTG T . . ALLELEID=66809;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32340990_32340991del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507872 13 32340992 52143 TC T . . ALLELEID=66811;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340993del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6866&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359612 13 32340995 38059 A AC . . ALLELEID=46615;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32340996dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1163600|Breast_Cancer_Information_Core__(BRCA2):6869&base_change%3Dins_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359613 13 32340996 52145 CT C . . ALLELEID=66813;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32340998del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6871&base_change%3Ddel_T|Invitae:4913259;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359614 13 32340997 254586 T TC . . ALLELEID=249020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340997_32340998insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290206;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038151 13 32340998 52146 T TA . . ALLELEID=66814;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32340999dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6872&base_change%3Dins_A|Invitae:2899400;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359615 13 32340998 38060 TACTC T . . ALLELEID=46616;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32340999_32341002del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:122347|Breast_Cancer_Information_Core__(BRCA2):6872&base_change%3Ddel_ACTC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359616 13 32340998 254587 TACTCC T . . ALLELEID=249021;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341000_32341004del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6872&base_change%3Ddel_ACTCC;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=606231404 13 32340999 266969 ACTCC A . . ALLELEID=261380;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341000_32341003del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040672 13 32341000 126113 C G . . ALLELEID=131651;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32341000C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358892 13 32341004 427241 AAAGAT A . . ALLELEID=416226;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341005_32341009del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1085308037 13 32341006 52148 A AG . . ALLELEID=66816;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32341007dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507874 13 32341006 427242 AG A . . ALLELEID=416227;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341007del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1085308038 13 32341011 52149 C G . . ALLELEID=66817;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32341011C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855086;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358893 13 32341011 52150 CAGAA C . . ALLELEID=66818;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341013_32341016del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6886&base_change%3Ddel_GAAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359617 13 32341011 126114 CAGAAA C . . ALLELEID=131652;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341013_32341017del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6886&base_change%3Ddel_GAAAA|Invitae:4913263;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359618 13 32341013 420953 GA G . . ALLELEID=408958;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32341017del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5155034;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064794812 13 32341017 548374 A AAAAG . . ALLELEID=538715;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341017_32341018insAAAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284786 13 32341018 185417 C CAAAG . . ALLELEID=183928;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341018_32341019insAAAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202157 13 32341025 52152 GA G . . ALLELEID=66820;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341028del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6901&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174875 13 32341029 52153 CAG C . . ALLELEID=66821;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341031_32341032del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913266|Breast_Cancer_Information_Core__(BRCA2):6904&base_change%3Ddel_GA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359619 13 32341030 182291 A G . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=180636;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided;CLNHGVS=NC_000013.11:g.32341030A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2523326|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2397934;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897741 13 32341031 266970 G T . . ALLELEID=261381;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341031G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=775859905 13 32341031 52154 GA G . . ALLELEID=66822;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341033del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6906&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359620 13 32341035 441419 C CA . . ALLELEID=435041;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341036dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284790 13 32341036 52155 A AG . . ALLELEID=66823;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341037dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6910&base_change%3Dins_G|Invitae:4913268;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359621 13 32341038 52157 TA T . . ALLELEID=66825;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32341039del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507876 13 32341040 182231 G T . . ALLELEID=180637;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341040G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=730881548 13 32341040 52158 GA G . . ALLELEID=66826;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341043del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507877 13 32341046 254588 GC G . . ALLELEID=249022;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341047del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038153 13 32341048 185255 T C . . ALLELEID=183931;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341048T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202036 13 32341048 236281 TA T . . ALLELEID=237823;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341051del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4349556;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853301 13 32341052 266971 GC G . . ALLELEID=261382;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341053del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040673 13 32341053 233640 C CTTTT . . ALLELEID=234900;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341054_32341057dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4913273;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781516 13 32341053 141129 CT C . . ALLELEID=150843;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341057del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781516 13 32341056 142717 TTA T . . ALLELEID=152431;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341058_32341059del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782667 13 32341070 52168 G T . . ALLELEID=66836;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341070G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174876 13 32341075 266972 G GAC . . ALLELEID=261383;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341077_32341078dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284825 13 32341077 548373 C CA . . ALLELEID=538716;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341078dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555284827 13 32341077 38062 CAG C . . ALLELEID=46618;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341079_32341080del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846677|Invitae:1216404;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507375 13 32341080 265059 AT A . . ALLELEID=260048;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32341082del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886039320 13 32341084 230161 T A . . ALLELEID=234903;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341084T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658420 13 32341084 52171 TA T . . ALLELEID=66839;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341087del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507879 13 32341085 266973 A T . . ALLELEID=261384;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341085A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040675 13 32341093 184062 A G . . AF_EXAC=0.00002;ALLELEID=183936;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32341093A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=760272304 13 32341095 52175 GTCATGCCACACAT G . . ALLELEID=66843;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341098_32341110del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6971&base_change%3Ddel_13;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359622 13 32341102 184327 C T . . ALLELEID=183937;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341102C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201405 13 32341103 38064 A G . . AF_EXAC=0.00018;AF_TGP=0.00020;ALLELEID=46620;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32341103A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358899 13 32341105 220265 A C . . ALLELEID=222329;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32341105A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622449 13 32341105 427478 A G . . ALLELEID=416346;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341105A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622449 13 32341107 52176 A AT . . ALLELEID=66844;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32341109dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4150676|Breast_Cancer_Information_Core__(BRCA2):6982&base_change%3Ddup_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=180670511 13 32341107 266974 ATT A . . ALLELEID=261385;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341108_32341109del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040676 13 32341108 52177 TTC T . . ALLELEID=66845;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32341110CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6985&base_change%3Ddel_CT|Invitae:554724;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359623 13 32341111 254589 T TC . . ALLELEID=249023;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341112dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038154 13 32341112 245827 CT C . . ALLELEID=244854;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32341117del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:9370014;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359624 13 32341112 52178 CTT C . . ALLELEID=66846;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341116_32341117del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):6989&base_change%3Ddel_TT|Invitae:242493;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359624 13 32341117 254590 T TA . . ALLELEID=249024;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341118dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038155 13 32341120 185717 A G . . ALLELEID=183939;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341120A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759293475 13 32341120 427480 A T . . AF_EXAC=0.00001;ALLELEID=416347;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341120A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759293475 13 32341123 52180 T A . . ALLELEID=66848;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32341123T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358901 13 32341126 427512 C G . . AF_ESP=0.00008;ALLELEID=416348;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341126C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373696964 13 32341126 184113 C T . . ALLELEID=183940;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32341126C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2833093;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373696964 13 32341131 188435 ATG A . . ALLELEID=186451;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341132_32341133del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204279 13 32341136 234042 G T . . ALLELEID=234906;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341136G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876660812 13 32341145 427496 T C . . AF_EXAC=0.00001;ALLELEID=416349;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341145T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750435643 13 32341155 52190 C A . . ALLELEID=66858;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32341155C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=377698594 13 32341156 230196 A G . . ALLELEID=234907;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341156A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658442 13 32341162 184513 T C . . ALLELEID=183941;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341162T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201513 13 32341162 52192 TG T . . ALLELEID=66860;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341164del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7037&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359625 13 32341164 52196 GA G . . ALLELEID=66864;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341169del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913290;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507885 13 32341165 220366 A G . . ALLELEID=222330;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32341165A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622496 13 32341168 252425 AAG A . . ALLELEID=246799;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341170_32341171del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255310 13 32341168 141509 AAGAAG A . . ALLELEID=151223;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341171_32341175del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2213310;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781803 13 32341170 52197 GAA G . . ALLELEID=66865;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32341171_32341172del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507886 13 32341179 236282 AG A . . ALLELEID=237824;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341180del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853302 13 32341183 52203 CCTTAT C . . ALLELEID=66871;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32341188_32341192del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7057&base_change%3Ddel_CTTAT|Breast_Cancer_Information_Core__(BRCA2):7061&base_change%3Ddel_TCTTA|Invitae:3137790;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359626 13 32341186 184467 T C . . ALLELEID=183943;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32341186T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201481 13 32341191 141082 TA CTTTGTGGTAAGTTT . . ALLELEID=150796;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32341191_32341192delinsCTTTGTGGTAAGTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587781480 13 32341273 126122 CAATT C . . ALLELEID=131660;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32341276_32341279del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7069+80&base_change%3Ddel_TTAA|Breast_Cancer_Information_Core__(BRCA2):7069+79&base_change%3Ddel_4;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=7;RS=11571661 13 32341387 209691 C A . . AF_TGP=0.26617;ALLELEID=205912;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32341387C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571662 13 32341421 209692 T C . . AF_TGP=0.00399;ALLELEID=205913;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32341421T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145237950 13 32341669 209693 A G . . AF_TGP=0.07388;ALLELEID=205914;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341669A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571663 13 32341836 209694 C G . . AF_TGP=0.07388;ALLELEID=205915;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32341836C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74729703 13 32342160 209695 C A . . AF_TGP=0.16833;ALLELEID=205916;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342160C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206077 13 32342225 209696 A G . . AF_TGP=0.00719;ALLELEID=205917;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342225A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150018865 13 32342233 209697 A T . . ALLELEID=205918;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342233A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=192828904 13 32342270 264921 CAA C . . ALLELEID=259439;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342287_32342288del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=58295304 13 32342530 264900 T A . . AF_TGP=0.00260;ALLELEID=259440;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342530T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=532022945 13 32342540 209698 G T . . AF_TGP=0.00839;ALLELEID=205919;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342540G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117883904 13 32342652 209699 A G . . AF_TGP=0.07388;ALLELEID=205920;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342652A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571665 13 32342695 264970 C T . . AF_TGP=0.00280;ALLELEID=259441;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342695C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=552441343 13 32342795 264898 C T . . AF_TGP=0.00459;ALLELEID=259442;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342795C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=569238800 13 32342999 209700 A G . . AF_TGP=0.00619;ALLELEID=205921;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32342999A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55921227 13 32343048 264978 GA G . . ALLELEID=259443;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32343062del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=398022213 13 32343174 264914 A G . . AF_TGP=0.00319;ALLELEID=259444;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32343174A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143233595 13 32343207 209701 T C . . AF_TGP=0.00619;ALLELEID=205922;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32343207T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571666 13 32343208 264958 T C . . AF_TGP=0.00879;ALLELEID=259445;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32343208T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571667 13 32343436 264860 C G . . AF_TGP=0.00339;ALLELEID=259446;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32343436C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571668 13 32343709 264947 G GA . . ALLELEID=259448;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32343719dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139939339 13 32343709 264977 GA G . . ALLELEID=259447;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32343719del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139939339 13 32344085 209702 A G . . AF_TGP=0.08007;ALLELEID=205923;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32344085A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571671 13 32344161 264952 G A . . AF_TGP=0.00260;ALLELEID=259449;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32344161G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=566287780 13 32344166 264926 GA G . . ALLELEID=259450;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32344183del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34225677 13 32344184 264964 G A . . AF_TGP=0.02356;ALLELEID=259451;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32344184G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=533452666 13 32344344 209703 T A . . AF_TGP=0.00659;ALLELEID=205924;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32344344T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571672 13 32344366 264941 CA C . . AF_TGP=0.00559;ALLELEID=259452;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32344367del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149811837 13 32344538 38069 T A . . AF_EXAC=0.00010;ALLELEID=46625;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32344538T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7070-20&base_change%3DT_to_A;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=81002811 13 32344569 38070 A G . . AF_ESP=0.00023;AF_EXAC=0.00029;ALLELEID=46626;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32344569A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:48928|Illumina_Laboratory_Services,Illumina:105484;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56272235 13 32344584 233333 T C . . ALLELEID=234909;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32344584T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2640680;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660341 13 32344592 234168 A G . . ALLELEID=231890;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32344592A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660897 13 32344601 427528 G A . . AF_EXAC=0.00001;ALLELEID=416350;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32344601G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=763852568 13 32344622 184690 A G . . ALLELEID=183944;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32344622A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201621 13 32344625 427385 C T . . ALLELEID=416351;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32344625C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692116 13 32344634 231913 T C . . ALLELEID=234911;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32344634T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659441 13 32344637 182293 A G . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=180642;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32344637A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2471125|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:198344|Illumina_Laboratory_Services,Illumina:576058;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=181183366 13 32344643 185063 C T . . AF_EXAC=0.00002;ALLELEID=183945;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32344643C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755086348 13 32344651 52220 A T . . AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=66888;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32344651A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838516|Illumina_Laboratory_Services,Illumina:304350;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358916 13 32344804 209704 A G . . AF_TGP=0.18570;ALLELEID=205925;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32344804A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942439 13 32344830 209705 G A . . AF_TGP=0.18570;ALLELEID=205926;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32344830G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942440 13 32344974 264908 T C . . AF_TGP=0.00499;ALLELEID=259453;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32344974T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143696527 13 32345093 209706 C T . . AF_TGP=0.07388;ALLELEID=205927;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32345093C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11147488 13 32345247 89053 T G . . AF_TGP=0.00200;ALLELEID=94596;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided;CLNHGVS=NC_000013.11:g.32345247T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=191253965 13 32345389 209707 A T . . AF_TGP=0.18451;ALLELEID=205928;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32345389A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942443 13 32345500 209708 T G . . AF_TGP=0.26957;ALLELEID=205929;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32345500T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28914;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9567576 13 32345631 209709 A T . . AF_TGP=0.01498;ALLELEID=205930;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32345631A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571676 13 32345879 209938 G A . . AF_TGP=0.97404;ALLELEID=205931;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32345879G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206078 13 32345984 209710 C T . . AF_TGP=0.00639;ALLELEID=205932;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32345984C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115057418 13 32346184 209711 G GT . . ALLELEID=205933;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346193dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199876527 13 32346203 209712 G T . . AF_TGP=0.07388;ALLELEID=205934;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346203G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74834625 13 32346312 209713 G C . . AF_TGP=0.00679;ALLELEID=205935;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346312G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=57263247 13 32346481 209714 G A . . AF_TGP=0.42332;ALLELEID=205936;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346481G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206079 13 32346514 209715 C T . . AF_TGP=0.00240;ALLELEID=205937;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346514C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=185087806 13 32346707 209939 T C . . AF_TGP=0.97404;ALLELEID=205938;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32346707T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206080 13 32346825 52222 A G . . ALLELEID=66890;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32346825A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7166-2&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002863 13 32346829 38074 AC A . . ALLELEID=46630;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32346830del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1577033|Breast_Cancer_Information_Core__(BRCA2):7169&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359628 13 32346830 38075 CAATA C . . ALLELEID=46631;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32346833_32346836del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:862616|Breast_Cancer_Information_Core__(BRCA2):7172&base_change%3Ddel_TAAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359629 13 32346834 254592 AAAAG A . . ALLELEID=249025;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346836_32346839del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122571 13 32346836 548357 A ATT . . ALLELEID=538717;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346836_32346837insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555285331 13 32346837 254591 A ATT . . ALLELEID=249026;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346837_32346838insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038156 13 32346841 38076 C T . . ALLELEID=46632;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Breast_neoplasm|Malignant_tumor_of_prostate|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32346841C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838261|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290326|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_206;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=80358920 13 32346842 52225 G A . . AF_EXAC=0.00002;ALLELEID=66893;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32346842G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840718|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723779;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358921 13 32346846 52228 AT A . . ALLELEID=66896;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346848del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507888 13 32346848 96844 T A . . ALLELEID=102747;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32346848T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358923 13 32346848 266976 TG T . . ALLELEID=261386;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346849del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040678 13 32346849 136565 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=140268;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32346849G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2321517|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2458175;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373134168 13 32346858 184160 T C . . ALLELEID=183946;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32346858T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201307 13 32346862 266977 GT G . . ALLELEID=261387;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346865del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040679 13 32346864 184053 T C . . AF_EXAC=0.00001;ALLELEID=183947;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32346864T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=781466318 13 32346866 252419 CT C . . ALLELEID=246800;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32346869del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=879255306 13 32346871 254593 G T . . ALLELEID=249027;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346871G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038158 13 32346874 421487 CCGATT C . . ALLELEID=408964;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32346875_32346879del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795172 13 32346876 183969 G A . . AF_EXAC=0.00001;ALLELEID=183948;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32346876G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850602;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756619373 13 32346877 230814 A AT . . ALLELEID=234912;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32346879dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658789 13 32346877 52232 ATTACC A . . ALLELEID=66900;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32346879_32346883del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7218&base_change%3Ddel_TACCT|Invitae:5415563;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359631 13 32346884 52234 GT G . . ALLELEID=66902;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32346885del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507889 13 32346885 184514 T C . . AF_EXAC=0.00002;ALLELEID=183950;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32346885T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779498845 13 32346886 219496 G GT . . AF_EXAC=0.00001;ALLELEID=222331;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32346887dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1080709;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=754611265 13 32346888 266978 A AT . . ALLELEID=261388;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346888_32346889insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040680 13 32346888 266979 AC A . . ALLELEID=261389;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346891del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869040376 13 32346891 52235 CTTTCG C . . ALLELEID=66903;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346892_32346896del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7231&base_change%3Ddel_TTTCG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359632 13 32346894 266981 T TC . . ALLELEID=261391;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346895dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040683 13 32346894 266980 TC T . . ALLELEID=261390;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32346895del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040682 13 32346896 38077 G A . . ALLELEID=46633;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32346896G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:198338|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2499163|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290362|OMIM_Allelic_Variant:600185.0020;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897743 13 32347011 264929 T TTTTATAAAA . . ALLELEID=259454;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32347013TTATAAAAT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571680 13 32347053 209717 C T . . AF_TGP=0.00719;ALLELEID=205940;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32347053C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56085245 13 32347169 209718 G A . . AF_TGP=0.07388;ALLELEID=205941;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32347169G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571681 13 32347225 209719 T C . . AF_TGP=0.07408;ALLELEID=205942;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32347225T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571682 13 32347399 209720 A G . . AF_TGP=0.07388;ALLELEID=205943;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32347399A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571684 13 32347584 209721 G A . . AF_TGP=0.00699;ALLELEID=205944;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32347584G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571685 13 32347734 264963 A AT . . ALLELEID=259455;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32347743dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=552521179 13 32347801 209722 A G . . AF_TGP=0.00020;ALLELEID=205945;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32347801A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146634222 13 32347807 209723 A G . . AF_TGP=0.26677;ALLELEID=205946;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32347807A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9567578 13 32347999 209724 C T . . AF_TGP=0.17013;ALLELEID=205947;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32347999C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206081 13 32348048 209725 G GA . . ALLELEID=205948;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32348054dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199754711 13 32348066 209726 TAAG T . . ALLELEID=205949;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32348069_32348071del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199645879 13 32348194 209727 A C . . AF_TGP=0.06110;ALLELEID=205950;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32348194A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571686 13 32348303 264972 C T . . AF_TGP=0.07548;ALLELEID=259456;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32348303C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74047010 13 32348329 264931 C T . . AF_TGP=0.00519;ALLELEID=259457;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32348329C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186096068 13 32348465 264938 A G . . AF_TGP=0.00300;ALLELEID=259458;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32348465A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=566431547 13 32348993 209728 G T . . AF_TGP=0.00899;ALLELEID=205951;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32348993G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571690 13 32349216 264895 CAAAAAAAAAAA C . . ALLELEID=259459;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349229_32349239del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55777417 13 32349322 209729 C CA . . ALLELEID=205952;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349332dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=71802971 13 32349323 209730 A AC . . AF_TGP=0.00180;ALLELEID=205953;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349323_32349324insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=572970006 13 32349324 209731 A C . . AF_TGP=0.01717;ALLELEID=205954;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349324A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571691 13 32349352 264982 C T . . AF_TGP=0.00559;ALLELEID=259460;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349352C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571692 13 32349428 209732 G A . . AF_TGP=0.00679;ALLELEID=205955;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349428G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571693 13 32349553 209733 C T . . AF_TGP=0.18331;ALLELEID=205956;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349553C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942448 13 32349673 209734 C T . . AF_TGP=0.00260;ALLELEID=205957;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349673C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143663101 13 32349814 264865 CA C . . ALLELEID=259461;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349832del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11327981 13 32349851 209735 A G . . AF_TGP=0.07368;ALLELEID=205958;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32349851A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571695 13 32350055 209736 A G . . AF_TGP=0.06110;ALLELEID=205959;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32350055A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571696 13 32350294 264957 G GT . . ALLELEID=259462;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32350301dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=557401423 13 32350510 209737 G C . . AF_TGP=0.26617;ALLELEID=205960;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32350510G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9567582 13 32350747 209738 C T . . AF_TGP=0.24820;ALLELEID=205961;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32350747C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=559067 13 32350832 209739 C T . . AF_TGP=0.00080;ALLELEID=205962;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32350832C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=192573117 13 32351120 209740 C A . . AF_TGP=0.18371;ALLELEID=205963;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32351120C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1853521 13 32351338 209741 T C . . AF_TGP=0.00799;ALLELEID=205964;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32351338T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142003293 13 32351783 209742 C CATTTT . . ALLELEID=205965;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32351788TATTT[4];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=202234683 13 32351799 264880 A AT . . ALLELEID=259463;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32351802dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571697 13 32351909 209743 C G . . AF_TGP=0.07149;ALLELEID=205966;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32351909C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571698 13 32352517 209744 T G . . AF_TGP=0.07867;ALLELEID=205967;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32352517T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571699 13 32352524 209745 C T . . AF_TGP=0.00919;ALLELEID=205968;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32352524C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55896130 13 32352807 209746 A G . . AF_TGP=0.07907;ALLELEID=205969;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32352807A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=721185 13 32352880 209747 G A . . AF_TGP=0.03714;ALLELEID=205970;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32352880G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571700 13 32352925 264889 A AAT . . ALLELEID=259464;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32352927_32352928dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571701 13 32353467 209749 CTA C . . AF_TGP=0.24181;ALLELEID=205972;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32353468_32353469del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145261968 13 32353471 264922 A G . . AF_TGP=0.24221;ALLELEID=259465;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32353471A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=61946965 13 32353473 264904 G GTA . . AF_TGP=0.24181;ALLELEID=259466;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32353473_32353474insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=372403616 13 32353474 264899 C CA . . AF_TGP=0.24181;ALLELEID=259467;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32353474_32353475insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=375090804 13 32353602 209750 T C . . AF_TGP=0.00020;ALLELEID=205973;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32353602T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=187377988 13 32353757 209751 C T . . AF_TGP=0.28395;ALLELEID=205974;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32353757C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9943876 13 32353975 209752 G A . . AF_TGP=0.20847;ALLELEID=205975;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32353975G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9943890 13 32354065 209753 A G . . AF_TGP=0.20927;ALLELEID=205976;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354065A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9943888 13 32354156 264868 A G . . AF_TGP=0.00240;ALLELEID=259468;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354156A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=190340680 13 32354180 209940 T C . . AF_TGP=0.97584;ALLELEID=205977;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354180T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206069 13 32354267 209754 T C . . AF_TGP=0.20827;ALLELEID=205978;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354267T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1460817 13 32354271 209941 G A . . AF_TGP=0.53474;ALLELEID=205979;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354271G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1460816 13 32354799 52247 A G . . AF_TGP=0.00379;ALLELEID=66915;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32354799A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7236-62&base_change%3DA_to_G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17714;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=76584943 13 32354859 52245 A G . . ALLELEID=66913;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354859A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290380|Breast_Cancer_Information_Core__(BRCA2):7236-2&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002823 13 32354859 52246 A T . . ALLELEID=66914;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32354859A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7236-2&base_change%3DA_to_T;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002823 13 32354860 188436 G A . . ALLELEID=186452;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32354860G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=786204280 13 32354870 52249 G C . . AF_ESP=0.00808;AF_EXAC=0.00228;AF_TGP=0.00679;ALLELEID=66917;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32354870G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM118447|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460047|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28913|Illumina_Laboratory_Services,Illumina:797562;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=45574331 13 32354876 548361 T TTG . . ALLELEID=538718;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354876_32354877insTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555285979 13 32354877 52250 C T . . ALLELEID=66918;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32354877C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290386|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2586557;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358928 13 32354877 187200 CA C . . ALLELEID=183952;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354879del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203546 13 32354877 52251 CAA C . . ALLELEID=66919;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32354878_32354879del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7253&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359634 13 32354877 266982 CAAGAGATACAGAATCCAAAT TG . . ALLELEID=261392;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354877_32354897delinsTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040684 13 32354879 231223 A G . . AF_EXAC=0.00001;ALLELEID=234914;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354879A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754478087 13 32354884 52253 T TA . . ALLELEID=66921;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354885dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7260&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359635 13 32354886 266983 C T . . ALLELEID=261393;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354886C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040685 13 32354888 254594 GA G . . ALLELEID=249028;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354890del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:8285273;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038159 13 32354896 52255 AT A . . ALLELEID=66923;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354900del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507893 13 32354903 136566 C T . . AF_EXAC=0.00001;ALLELEID=140269;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32354903C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780870 13 32354909 52259 T A . . ALLELEID=66927;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32354909T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174888 13 32354909 427391 T C . . ALLELEID=416352;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354909T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174888 13 32354910 52260 G C . . AF_ESP=0.00008;AF_EXAC=0.00006;ALLELEID=66928;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32354910G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:550780;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358935 13 32354913 52261 C T . . ALLELEID=66929;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32354913C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290392;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358936 13 32354916 254595 G T . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=249029;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32354916G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=200078639 13 32354918 52262 ATT A . . ALLELEID=66930;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32354920_32354921del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507894 13 32354920 38082 TTC T . . ALLELEID=46638;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32354922_32354923del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7297&base_change%3Ddel_CT|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2221732|Invitae:653545|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:174397|Geisinger_Autism_and_Developmental_Medicine_Institute,Geisinger_Health_System:ADMI00115;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=17;RS=80359636 13 32354924 233832 G T . . ALLELEID=234917;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354924G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45496492 13 32354933 52264 T TCATTTGTATGAACATCTGA . . ALLELEID=66932;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32354935_32354953dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense,SO:0001821|inframe_insertion;ORIGIN=1;RS=397507895 13 32354934 254596 CATTTGTATGA C . . ALLELEID=249030;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354936_32354945del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038160 13 32354943 266984 G T . . ALLELEID=261394;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354943G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358940 13 32354943 52267 GA G . . ALLELEID=66935;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354945del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507896 13 32354949 185971 C CT . . ALLELEID=183954;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32354950dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202600 13 32354951 427500 G A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=416353;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354951G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=570826002 13 32354957 427494 G A . . AF_EXAC=0.00002;ALLELEID=416354;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354957G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:906108;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=764698623 13 32354958 266985 G GA . . ALLELEID=261395;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32354963dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4913321;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359638 13 32354958 52270 GA G . . ALLELEID=66938;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354963del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7338&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359638 13 32354958 254597 GAA G . . ALLELEID=249031;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354962_32354963del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7336&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359638 13 32354968 441507 C A . . ALLELEID=435047;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32354968C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358943 13 32354968 52271 C G . . ALLELEID=66939;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32354968C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358943 13 32354968 409498 CAAGCA GC . . ALLELEID=400063;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354968_32354973delinsGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=1064792962 13 32354977 266986 T G . . ALLELEID=261396;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354977T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040687 13 32354986 38085 C G . . ALLELEID=46641;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32354986C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174889 13 32354990 182294 A G . . ALLELEID=180645;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32354990A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881593 13 32354993 91471 TC T . . ALLELEID=96948;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32354995del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122576 13 32354996 236897 A AT . . ALLELEID=241703;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32355000dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853599 13 32355003 38086 C A . . AF_ESP=0.00185;AF_EXAC=0.00043;AF_TGP=0.00140;ALLELEID=46642;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32355003C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:44257|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-7|Illumina_Laboratory_Services,Illumina:575762;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55977008 13 32355003 266987 CA C . . ALLELEID=261397;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355005del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040688 13 32355003 52273 CAA C . . ALLELEID=66941;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355004_32355005del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7379&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174890 13 32355005 52274 A G . . ALLELEID=66942;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355005A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7380&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359796 13 32355006 52275 G GT . . ALLELEID=66943;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355009dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7384&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359639 13 32355016 418086 CAAGAA C . . ALLELEID=408968;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32355018_32355022del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064793067 13 32355018 52276 AG A . . ALLELEID=66944;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32355019del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507898 13 32355024 52278 G GA . . ALLELEID=66946;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32355030dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507899 13 32355033 52279 A T . . ALLELEID=66947;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355033A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290416|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2849789;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358946 13 32355035 52280 A G . . ALLELEID=66948;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355035A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359797 13 32355035 52281 AC A . . ALLELEID=66949;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355036del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507900 13 32355036 254598 CACTT C . . ALLELEID=249032;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355037_32355040del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038162 13 32355038 52282 C CT . . ALLELEID=66950;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32355040dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507901 13 32355038 252408 C T . . ALLELEID=246801;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355038C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2824872;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881580 13 32355038 38087 CTTGAT AG . . ALLELEID=46643;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355038_32355043delinsAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=397507383 13 32355040 266989 T A . . ALLELEID=261398;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355040T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876658803 13 32355041 136567 G A . . ALLELEID=140270;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355041G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1325127|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2587295;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780871 13 32355041 141729 G T . . ALLELEID=151443;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355041G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2295097|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2780923;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587780871 13 32355042 266990 AT A . . ALLELEID=261399;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355044del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040690 13 32355044 427508 T A . . ALLELEID=416355;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355044T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772265912 13 32355055 52287 GACCA G . . ALLELEID=66955;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355057CCAA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7436&base_change%3Ddel_CCAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359641 13 32355062 266993 CA C . . ALLELEID=261401;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32355065del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359642 13 32355062 52289 CAA C . . ALLELEID=66957;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32355064_32355065del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7439&base_change%3Ddel_AA|Invitae:1977977;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359642 13 32355062 232446 CAAA GG . . ALLELEID=234923;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32355062_32355065delinsGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659770 13 32355063 266992 A T . . ALLELEID=261400;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355063A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040691 13 32355063 52288 AAAGTCT TG . . ALLELEID=66956;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32355063_32355069delinsTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507904 13 32355063 265550 AAAGTCT TGTAG . . ALLELEID=260049;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32355063_32355069delinsTGTAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507904 13 32355068 231762 C CT . . ALLELEID=234924;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355071dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659345 13 32355072 266994 G GTTCC . . ALLELEID=261402;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355073_32355076dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040693 13 32355076 52292 CACCT C . . ALLELEID=66960;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32355077_32355080del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507905 13 32355077 52291 A G . . ALLELEID=66959;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355077A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2709833|Breast_Cancer_Information_Core__(BRCA2):7452&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174891 13 32355077 52293 AC A . . ALLELEID=66961;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355079del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7454&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359643 13 32355079 485430 CT C . . ALLELEID=476967;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355083del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913336;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286052 13 32355083 431332 TA T . . ALLELEID=424762;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355087del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401917 13 32355085 52294 A C . . AF_EXAC=0.00005;ALLELEID=66962;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355085A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2420161;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358950 13 32355086 548430 A AG . . ALLELEID=538720;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355086_32355087insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286054 13 32355087 52295 A AG . . ALLELEID=66963;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32355087_32355088insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507906 13 32355088 126132 C CG . . ALLELEID=131670;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355088_32355089insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7463&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=483353118 13 32355092 215614 A G . . AF_EXAC=0.00002;ALLELEID=213066;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355092A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2709829;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=763727386 13 32355094 52296 C G . . ALLELEID=66964;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355094C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844654;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358951 13 32355095 126133 A G . . AF_ESP=0.21136;AF_TGP=0.23263;ALLELEID=131671;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32355095A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:12124|Breast_Cancer_Information_Core__(BRCA2):7470&base_change%3DA_to_G|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460060|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14192;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1799955 13 32355095 427551 A T . . ALLELEID=416356;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355095A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:164859;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1799955 13 32355097 254599 AT A . . ALLELEID=249033;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355101del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038163 13 32355101 427421 T C . . ALLELEID=416357;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355101T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692140 13 32355101 52298 TCA T . . ALLELEID=66966;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32355102CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:353812;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507907 13 32355104 229661 C T . . ALLELEID=234926;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355104C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658126 13 32355104 52300 CAG C . . ALLELEID=66968;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355105AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4913339|Breast_Cancer_Information_Core__(BRCA2):7482&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359644 13 32355111 38089 G T . . ALLELEID=46645;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355111G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507385 13 32355114 52301 C T . . ALLELEID=66969;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32355114C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507908 13 32355119 183185 T A . . ALLELEID=181312;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355119T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=730882169 13 32355129 266996 ATTAACTT A . . ALLELEID=261403;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355130_32355136del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040695 13 32355131 184726 T A . . AF_ESP=0.00023;AF_EXAC=0.00002;ALLELEID=183958;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355131T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2709592;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372377916 13 32355134 126134 CT C . . ALLELEID=131672;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355136del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7511&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=483353119 13 32355136 266997 T A . . ALLELEID=261404;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32355136T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040696 13 32355136 254600 TG T . . ALLELEID=249034;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355138del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038164 13 32355140 185484 G A . . ALLELEID=183959;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355140G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202210 13 32355150 185769 CA C . . ALLELEID=183961;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355154del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1177715;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202441 13 32355152 186758 A G . . AF_EXAC=0.00001;ALLELEID=183960;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355152A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749310833 13 32355156 52305 C T . . ALLELEID=66973;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355156C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507910 13 32355160 52306 A T . . AF_EXAC=0.00001;ALLELEID=66974;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355160A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358955 13 32355160 548398 AC A . . ALLELEID=538721;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355161del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286075 13 32355161 267001 CA C . . ALLELEID=261405;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355162del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040699 13 32355164 427368 T A . . ALLELEID=416358;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32355164T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692103 13 32355170 135813 A G . . AF_EXAC=0.00003;ALLELEID=139525;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32355170A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2624646|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:174398;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780660 13 32355172 41562 A G . . AF_ESP=0.01054;AF_EXAC=0.00304;AF_TGP=0.01038;ALLELEID=50001;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32355172A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:797564|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28912|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460072;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4986860 13 32355173 52310 TG T . . ALLELEID=66978;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355175del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507911 13 32355183 431333 GA G . . ALLELEID=424763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355184del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401918 13 32355188 188437 T TA . . ALLELEID=186453;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355193dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204281 13 32355192 233672 AAT A . . ALLELEID=234929;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355194_32355195del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5892730;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660563 13 32355194 381039 T C . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=372763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355194T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=4986858 13 32355194 38090 TAA T . . ALLELEID=46646;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355195_32355196del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507386 13 32355201 254601 AATGAC A . . ALLELEID=249035;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355203_32355207del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6268403;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038165 13 32355203 427532 T C . . AF_EXAC=0.00001;ALLELEID=416359;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355203T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767290713 13 32355206 267002 CA C . . ALLELEID=261406;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355208del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040700 13 32355212 52312 GA G . . ALLELEID=66980;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355213del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7588&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359646 13 32355215 267004 TC T . . ALLELEID=261407;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355216del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040702 13 32355219 233359 C T . . ALLELEID=234931;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355219C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507912 13 32355220 267005 AGTTT A . . ALLELEID=261408;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355221_32355224del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040703 13 32355227 52315 CA C . . ALLELEID=66983;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:831870;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507914 13 32355228 52314 A T . . ALLELEID=66982;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355228A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507913 13 32355229 38091 AAAAC A . . ALLELEID=46647;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355232_32355235del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7607&base_change%3Ddel_ACAA|Invitae:4766402;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359648 13 32355231 548354 A AG . . ALLELEID=538722;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355231_32355232insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286097 13 32355232 126135 A AG . . ALLELEID=131673;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355232_32355233insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7607&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359647 13 32355233 254602 CA C . . ALLELEID=249036;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355235del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038166 13 32355238 267006 CCAAT C . . ALLELEID=261409;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355242_32355245del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040704 13 32355250 52317 T . . . AF_ESP=0.02230;AF_EXAC=0.00628;AF_TGP=0.02416;ALLELEID=66985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32355250%3D;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:44258;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant,SO:0002073|no_sequence_alteration;ORIGIN=1;RS=169547 13 32355251 215615 A G . . ALLELEID=213067;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32355251A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224311 13 32355257 184318 A C . . AF_EXAC=0.00002;ALLELEID=183965;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355257A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747117261 13 32355259 52320 C CT . . ALLELEID=66988;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355262dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507915 13 32355259 52319 CTT C . . ALLELEID=66987;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355261_32355262del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507915 13 32355263 38093 CACAAAGTGTG C . . ALLELEID=46649;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355265_32355274del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7640&base_change%3Ddel_CAAAGTGTGA|Invitae:2524622;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359649 13 32355265 254603 CA C . . ALLELEID=249037;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355268del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359650 13 32355265 38094 CAA C . . ALLELEID=46650;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32355267_32355268del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7642&base_change%3Ddel_AA|Invitae:4913357;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359650 13 32355266 230378 A G . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=234933;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32355266A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840788;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=138067005 13 32355268 52322 A C . . AF_EXAC=0.00001;ALLELEID=66990;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355268A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358963 13 32355268 38095 AGT A . . ALLELEID=46651;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32355270TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2244160|Breast_Cancer_Information_Core__(BRCA2):7647&base_change%3Ddel_TG;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359651 13 32355276 267009 GA G . . ALLELEID=261410;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355278del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040706 13 32355283 254604 C CT . . ALLELEID=249038;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355286dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=779007406 13 32355284 236900 T C . . ALLELEID=241706;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355284T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853601 13 32355286 267010 T TA . . ALLELEID=261411;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32355287dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040707 13 32355341 126136 C T . . AF_TGP=0.07248;ALLELEID=131674;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified;CLNHGVS=NC_000013.11:g.32355341C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7663+53&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11147489 13 32356237 209755 T A . . AF_TGP=0.00599;ALLELEID=205980;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356237T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183906314 13 32356297 209756 C T . . AF_TGP=0.00599;ALLELEID=205981;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356297C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571706 13 32356433 52333 AT A . . ALLELEID=67001;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356435del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7671&base_change%3Ddel_T|Invitae:7888393;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359652 13 32356437 409586 CA C . . ALLELEID=399445;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356439del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502482 13 32356446 422598 AGAATGCCAGAGATATACAGGATATGC A . . ALLELEID=408972;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356451_32356476del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:7014318;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064795884 13 32356455 254605 G GAT . . ALLELEID=249039;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356456_32356457insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=OMIM_Allelic_Variant:600185.0018;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038169 13 32356455 548429 G GTA . . ALLELEID=538723;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356455_32356456insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286226 13 32356458 52338 A AT . . ALLELEID=67006;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356459dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507918 13 32356460 126137 A AT . . ALLELEID=131675;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356461dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7696&base_change%3Dins_T;GENEINFO=BRCA2:675;ORIGIN=3;RS=1555286239 13 32356460 267012 AT A . . ALLELEID=261412;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356461del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040709 13 32356461 96852 T C . . AF_ESP=0.00161;AF_EXAC=0.01436;AF_TGP=0.01597;ALLELEID=102755;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32356461T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:19300|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460086|Illumina_Laboratory_Services,Illumina:112929;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=11571707 13 32356462 254606 AC A . . ALLELEID=249040;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32356463del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038170 13 32356463 52339 C T . . ALLELEID=67007;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32356463C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290476;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=80358971 13 32356465 52340 GGA G . . ALLELEID=67008;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356466_32356467del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7702&base_change%3Ddel_GA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359653 13 32356472 427428 C A . . ALLELEID=416360;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32356472C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80358972 13 32356472 38099 C T . . ALLELEID=46655;CLNDISDB=Human_Phenotype_Ontology:HP:0002575,MONDO:MONDO:0008586,MedGen:C0040588,OMIM:189960,Orphanet:ORPHA1199|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Tracheoesophageal_fistula|Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32356472C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2422395|Broad_Institute_Rare_Disease_Group,_Broad_Institute:a05f6a51-c730-436d-89ac-ab65ac800d40|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290488;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358972 13 32356475 267013 A AT . . ALLELEID=261413;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356477dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:715852;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038171 13 32356475 254607 AT A . . ALLELEID=249041;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356477del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038171 13 32356476 548406 T TA . . ALLELEID=538724;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356476_32356477insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286251 13 32356478 254608 A AT . . ALLELEID=249042;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356478_32356479insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038172 13 32356483 186621 G A . . ALLELEID=183970;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32356483G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203092 13 32356487 267014 C T . . ALLELEID=261414;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356487C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876660447 13 32356493 267015 C T . . ALLELEID=261415;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32356493C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040711 13 32356494 267016 AACGC A . . ALLELEID=261416;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356495_32356498del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040712 13 32356497 52345 G A . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=67013;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356497G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2451237|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:123892;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56070345 13 32356498 229899 C G . . ALLELEID=234938;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356498C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2652271;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140693106 13 32356498 182295 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=180651;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356498C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140693106 13 32356500 252447 TCTTTCCACAGCCA G . . ALLELEID=246843;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32356500_32356513delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=879255331 13 32356501 184774 C G . . AF_EXAC=0.00001;ALLELEID=183973;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356501C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844679;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766080516 13 32356501 224471 C T . . ALLELEID=226180;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356501C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855084;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766080516 13 32356508 267017 C CA . . ALLELEID=261417;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356509dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040713 13 32356508 230556 C T . . ALLELEID=234939;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32356508C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290500;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876658631 13 32356509 267018 AG A . . ALLELEID=261418;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356510del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040714 13 32356513 184061 A G . . AF_EXAC=0.00004;ALLELEID=183974;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356513A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829649;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759383358 13 32356516 91481 C CA . . ALLELEID=96958;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356517dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2891961|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831578|Breast_Cancer_Information_Core__(BRCA2):7753&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359656 13 32356516 548359 C CT . . ALLELEID=538725;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356516_32356517insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555286267 13 32356520 267019 CTG C . . ALLELEID=261419;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356522_32356523del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6066080;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040715 13 32356526 52349 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=67017;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356526C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358980 13 32356529 52350 GC G . . ALLELEID=67018;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32356530del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507919 13 32356530 38101 C CA . . ALLELEID=46657;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32356535dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7771&base_change%3Dins_A|Invitae:4913374;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359657 13 32356530 52351 CA C . . ALLELEID=67019;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356535del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7771&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359657 13 32356535 52352 AC A . . ALLELEID=67020;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356536del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507920 13 32356536 38102 C T . . AF_ESP=0.00046;AF_EXAC=0.00075;ALLELEID=46658;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356536C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462170|Illumina_Laboratory_Services,Illumina:576272|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:95243;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897744 13 32356537 224470 A G . . AF_EXAC=0.00001;ALLELEID=226181;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356537A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767555621 13 32356539 254609 CCA C . . ALLELEID=249043;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356541_32356542del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038173 13 32356546 91482 G GC . . ALLELEID=96959;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356548dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7784&base_change%3Dins_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359660 13 32356549 267020 TC T . . ALLELEID=261420;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356550del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040716 13 32356550 52353 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=67021;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32356550C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723868|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:94751|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290518|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2389229;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358981 13 32356551 267021 GA G . . ALLELEID=261421;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356553del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040717 13 32356553 38105 ATC A . . ALLELEID=46661;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356555CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7795&base_change%3Ddel_CT|Invitae:672301;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359664 13 32356553 267022 ATCTC A . . ALLELEID=261422;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356555CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359664 13 32356555 188438 C A . . ALLELEID=186454;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356555C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786204282 13 32356561 184689 G A . . ALLELEID=183976;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356561G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841689;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201620 13 32356566 225751 CA C . . ALLELEID=227544;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356567del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320797 13 32356571 433816 G GT . . ALLELEID=427411;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356572dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286298 13 32356578 182320 GC G . . ALLELEID=180653;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356580del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881613 13 32356583 52359 GT G . . ALLELEID=67027;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356585del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7821&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359665 13 32356586 548334 C CTT . . ALLELEID=538726;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356586_32356587insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286301 13 32356586 126141 CCCTCTGCGTGTTCT C . . ALLELEID=131679;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356588_32356601del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7824&base_change%3Ddel_14;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359667 13 32356587 126140 C CTT . . ALLELEID=131678;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356587_32356588insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7823&base_change%3Dins_TT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359666 13 32356588 186011 C G . . ALLELEID=183979;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32356588C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748631472 13 32356588 184502 C T . . AF_EXAC=0.00002;ALLELEID=183980;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356588C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2629698;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748631472 13 32356591 427373 T C . . ALLELEID=416361;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356591T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692108 13 32356593 230259 CG C . . ALLELEID=234943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32356594del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4030544;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658470 13 32356594 184977 G A . . AF_EXAC=0.00001;ALLELEID=183981;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32356594G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=81002826 13 32356594 187589 G C . . ALLELEID=183982;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32356594G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=81002826 13 32356604 52361 A T . . ALLELEID=67029;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32356604A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507921 13 32356607 267024 C T . . ALLELEID=261423;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356607C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040720 13 32356610 52362 G A . . ALLELEID=67030;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356610G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397507922 13 32356611 52364 T G . . ALLELEID=67032;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32356611T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723916|Breast_Cancer_Information_Core__(BRCA2):7845+2&base_change%3DT_to_G;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=81002843 13 32356757 209757 G A . . AF_TGP=0.01198;ALLELEID=205982;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356757G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571708 13 32356799 264968 G A . . AF_TGP=0.99860;ALLELEID=259469;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32356799G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206096 13 32357158 209758 G A . . AF_TGP=0.01038;ALLELEID=205983;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357158G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571710 13 32357492 209759 G A . . AF_TGP=0.00280;ALLELEID=205984;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357492G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142832766 13 32357740 267684 A G . . ALLELEID=262835;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32357740A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851564;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=886040940 13 32357741 38110 G A . . ALLELEID=46666;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32357741G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397507389 13 32357747 267025 T TA . . ALLELEID=261424;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357748dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040721 13 32357750 52372 G A . . AF_ESP=0.00208;AF_EXAC=0.00073;AF_TGP=0.00419;ALLELEID=67040;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32357750G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7854&base_change%3DG_to_A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:198345|Illumina_Laboratory_Services,Illumina:576060;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61754138 13 32357750 126153 G GT . . ALLELEID=131691;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357751dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7855&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359668 13 32357753 420500 T A . . ALLELEID=408976;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32357753T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064794521 13 32357753 267026 TG T . . ALLELEID=261425;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357755del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040722 13 32357756 233019 C T . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=234945;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357756C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=551834979 13 32357757 52375 GTTTCTAAACA G . . ALLELEID=67043;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32357760_32357769del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507927 13 32357759 427432 T A . . AF_EXAC=0.00001;ALLELEID=416362;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357759T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770465089 13 32357760 267027 TCTAAACATTG T . . ALLELEID=261426;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357762_32357771del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040723 13 32357762 185654 T C . . ALLELEID=183984;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32357762T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202346 13 32357766 267028 CAT C . . ALLELEID=261427;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32357767_32357768del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040724 13 32357771 52377 C A . . ALLELEID=67045;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357771C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358993 13 32357773 252846 T TA . . ALLELEID=247247;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357778dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255463 13 32357774 186479 A T . . ALLELEID=183985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357774A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750460177 13 32357776 52378 AAATT A . . ALLELEID=67046;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32357779_32357782del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7883&base_change%3Ddel_TTAA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359669 13 32357786 236283 C CA . . ALLELEID=237825;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357791dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853303 13 32357786 267030 C CAA . . ALLELEID=261428;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357790_32357791dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853303 13 32357792 267031 T TA . . ALLELEID=261429;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357792_32357793insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040726 13 32357794 254610 C CAG . . ALLELEID=249044;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357795AG[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359672 13 32357794 52379 CA C . . ALLELEID=67047;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357795del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507928 13 32357794 38113 CAG C . . ALLELEID=46669;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32357795AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:937940;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359672 13 32357796 236908 GA G . . ALLELEID=241714;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357797del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853605 13 32357798 548353 G GAAAC . . ALLELEID=538727;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357798_32357799insAAAC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286406 13 32357800 52385 C CT . . ALLELEID=67053;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357804dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:3885577;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359673 13 32357800 52384 CT C . . ALLELEID=67052;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32357804del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359673 13 32357800 52381 CTT C . . ALLELEID=67049;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357803_32357804del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7907&base_change%3Ddel_TT|Invitae:2807835;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359673 13 32357805 52387 C CT . . ALLELEID=67055;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357805_32357806insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507933 13 32357805 52386 C T . . ALLELEID=67054;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32357805C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:119235|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290566;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358994 13 32357806 254611 AGT A . . AF_EXAC=0.00001;ALLELEID=249045;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357807_32357808del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=766251541 13 32357807 184155 G A . . ALLELEID=183986;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357807G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201304 13 32357812 52388 AC A . . ALLELEID=67056;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32357813del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7917&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359674 13 32357813 236909 C T . . ALLELEID=241715;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357813C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853606 13 32357816 427417 T C . . ALLELEID=416363;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357816T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692137 13 32357820 52390 G GA . . AF_EXAC=0.00001;ALLELEID=67058;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357821dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507934 13 32357828 254612 TG T . . ALLELEID=249046;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357830del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038175 13 32357830 52391 GT G . . ALLELEID=67059;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357831del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507935 13 32357832 267032 A T . . ALLELEID=261430;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357832A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876659346 13 32357842 187368 T G . . ALLELEID=183987;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357842T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786203680 13 32357842 126155 T TA . . ALLELEID=131693;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357843dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5354909|Breast_Cancer_Information_Core__(BRCA2):7947&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359676 13 32357845 52394 G A . . ALLELEID=67062;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357845G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358997 13 32357846 409496 G A . . ALLELEID=399870;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357846G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1060502433 13 32357858 548396 AATACA CTGATGGTG . . ALLELEID=538728;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357858_32357863delinsCTGATGGTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=1555286434 13 32357862 52396 C T . . ALLELEID=67064;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357862C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290584;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80358999 13 32357866 267033 TG T . . ALLELEID=261431;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32357868del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040727 13 32357873 184108 T C . . ALLELEID=183989;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32357873T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201284 13 32357873 52399 TG T . . ALLELEID=67067;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357875del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507936 13 32357881 52401 G A . . ALLELEID=67069;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32357881G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290590|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2655033|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723937;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359003 13 32357881 421028 G GGC . . ALLELEID=408981;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32357882_32357883dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286443 13 32357882 38116 G A . . ALLELEID=46672;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357882G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290596|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846281;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359004 13 32357884 267034 T TCATAC . . ALLELEID=261432;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357886_32357890dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040728 13 32357884 52404 TC T . . ALLELEID=67072;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357885del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7989&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359678 13 32357885 52405 CA C . . ALLELEID=67073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357886del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7990&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359679 13 32357886 233493 ATA TT . . ALLELEID=234951;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357886_32357888delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=483353072 13 32357888 126156 A T . . ALLELEID=131694;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32357888A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):7992&base_change%3DA_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359798 13 32357901 141811 G T . . ALLELEID=151525;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357901G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782028 13 32357902 267035 G GA . . ALLELEID=261433;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357905dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040729 13 32357911 126157 G GA . . ALLELEID=131695;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357915dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8019&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359681 13 32357916 431335 G T . . ALLELEID=424765;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32357916G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290614;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1135401919 13 32357919 267036 G T . . ALLELEID=261434;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32357919G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=41293509 13 32358127 264913 A G . . AF_TGP=0.00300;ALLELEID=259470;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32358127A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=575726783 13 32358436 264933 A G . . AF_TGP=0.00319;ALLELEID=259471;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32358436A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=567772904 13 32358468 209760 C G . . AF_TGP=0.00679;ALLELEID=205985;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32358468C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=75002749 13 32358476 264971 C CA . . ALLELEID=259472;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32358490dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34469166 13 32358600 209761 T C . . AF_TGP=0.00240;ALLELEID=205986;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32358600T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11842816 13 32358687 264960 C G . . AF_TGP=0.00739;ALLELEID=259473;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32358687C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=537051914 13 32358855 209762 G T . . AF_TGP=0.00519;ALLELEID=205987;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32358855G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147710079 13 32358885 209763 G T . . AF_TGP=0.44090;ALLELEID=205988;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32358885G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206097 13 32359219 264950 C A . . AF_TGP=0.94050;ALLELEID=259474;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32359219C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=559160843 13 32359222 264875 G A . . AF_TGP=0.94050;ALLELEID=259475;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32359222G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=532967407 13 32359302 209764 A G . . AF_TGP=0.02256;ALLELEID=205989;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32359302A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117134513 13 32359497 264932 A G . . AF_TGP=0.00479;ALLELEID=259476;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32359497A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=192381346 13 32359570 264902 T C . . AF_TGP=0.00200;ALLELEID=259477;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32359570T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=534750592 13 32359789 209765 A G . . AF_TGP=0.23283;ALLELEID=205990;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32359789A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9567600 13 32359800 209942 A G . . AF_TGP=0.97624;ALLELEID=205991;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32359800A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206098 13 32360294 209766 G A . . AF_TGP=0.01238;ALLELEID=205992;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32360294G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74047013 13 32360373 209767 T A . . AF_TGP=0.01178;ALLELEID=205993;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32360373T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571712 13 32360418 209768 G A . . AF_TGP=0.00060;ALLELEID=205994;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32360418G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182680171 13 32360422 264882 C T . . AF_TGP=0.00379;ALLELEID=259478;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32360422C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571713 13 32360520 264894 C T . . AF_TGP=0.00240;ALLELEID=259479;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32360520C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571714 13 32360521 209769 G A . . AF_TGP=0.01018;ALLELEID=205995;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32360521G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571715 13 32360774 209770 G A . . AF_TGP=0.23263;ALLELEID=205996;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32360774G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571717 13 32360873 209771 C T . . AF_TGP=0.00879;ALLELEID=205997;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32360873C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114616563 13 32361269 209772 T C . . AF_TGP=0.13678;ALLELEID=205998;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32361269T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534259 13 32361348 209773 C T . . AF_TGP=0.00260;ALLELEID=205999;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32361348C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150813429 13 32361504 209774 G A . . AF_TGP=0.00839;ALLELEID=206000;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32361504G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56132513 13 32362094 209775 C G . . AF_TGP=0.00240;ALLELEID=206001;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362094C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144062001 13 32362235 209776 G A . . AF_TGP=0.00260;ALLELEID=206002;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362235G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147319311 13 32362483 52419 A G . . AF_ESP=0.00908;AF_TGP=0.00938;ALLELEID=67087;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32362483A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8034-40&base_change%3DA_to_G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:94753;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9590939 13 32362509 126158 T C . . AF_ESP=0.52015;AF_EXAC=0.52083;AF_TGP=0.53155;ALLELEID=131696;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided;CLNHGVS=NC_000013.11:g.32362509T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460099|Illumina_Laboratory_Services,Illumina:12127|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14193|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723971|Breast_Cancer_Information_Core__(BRCA2):8034-14&base_change%3DT_to_C;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534262 13 32362520 812555 C CAG . . ALLELEID=800795;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362521_32362522dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1593923877 13 32362521 52418 A G . . ALLELEID=67086;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32362521A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290632|Breast_Cancer_Information_Core__(BRCA2):8034-2&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002836 13 32362522 52421 G GGA . . ALLELEID=67089;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362523_32362524insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8034&base_change%3Dins_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359683 13 32362527 267037 CTG C . . ALLELEID=261435;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362528TG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1541303;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040730 13 32362532 126160 T TGACA . . ALLELEID=131698;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362533_32362536dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8047&base_change%3Dins_GACA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359684 13 32362535 409578 CA C . . ALLELEID=399363;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362536del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502478 13 32362538 409596 T TC . . ALLELEID=399449;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362540dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286824 13 32362545 440432 G GT . . ALLELEID=434065;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362546dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5892783;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286826 13 32362547 184632 G A . . ALLELEID=183993;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362547G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201583 13 32362553 415636 A C . . ALLELEID=400085;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32362553A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504601 13 32362558 267226 TTA T . . ALLELEID=262097;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32362560_32362561del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040867 13 32362560 52425 AT A . . ALLELEID=67093;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32362563del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507940 13 32362563 52426 TC T . . ALLELEID=67094;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32362564del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8075&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359685 13 32362569 141334 A AT . . ALLELEID=151048;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362572dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781665 13 32362572 254613 TG T . . ALLELEID=249047;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362575del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038176 13 32362573 52427 G A . . ALLELEID=67095;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362573G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507941 13 32362574 38122 G A . . ALLELEID=46678;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32362574G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290650;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359011 13 32362575 267038 GT G . . ALLELEID=261436;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040731 13 32362580 52428 T A . . ALLELEID=67096;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362580T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174896 13 32362580 267039 T TA . . ALLELEID=261437;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362582dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1611238;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040732 13 32362586 52429 CTA C . . ALLELEID=67097;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362587TA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507942 13 32362589 236911 T C . . ALLELEID=241716;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362589T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224468 13 32362589 216031 T G . . ALLELEID=213073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362589T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=863224468 13 32362593 441339 TG T . . ALLELEID=435063;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362595del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555286842 13 32362594 141118 G A . . ALLELEID=150832;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362594G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587781506 13 32362594 267040 G GGATC . . ALLELEID=261438;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362595_32362598dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040733 13 32362595 38124 G A . . ALLELEID=46680;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32362595G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290662;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=3;RS=80359013 13 32362595 38125 G C . . AF_EXAC=0.00002;ALLELEID=46681;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32362595G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_466;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359013 13 32362596 52430 A T . . ALLELEID=67098;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32362596A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290668|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_497;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359014 13 32362600 52431 T TA . . ALLELEID=67099;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362601dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507943 13 32362603 52432 G A . . ALLELEID=67100;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362603G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359015 13 32362604 267041 G A . . ALLELEID=261439;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362604G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040734 13 32362604 91497 G GAA . . ALLELEID=96974;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362606_32362607dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122593 13 32362625 52433 T A . . ALLELEID=67101;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362625T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290680;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359016 13 32362626 38126 GCCTTT G . . ALLELEID=46682;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32362630_32362634del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8141&base_change%3Ddel_TTCCT|Invitae:1425834|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:154334|Breast_Cancer_Information_Core__(BRCA2):8138&base_change%3Ddel_CCTTT;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359686 13 32362627 548370 C CGAAA . . ALLELEID=538729;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362627_32362628insGAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286851 13 32362628 267042 C CGAAA . . ALLELEID=261440;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362628_32362629insGAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040735 13 32362628 252448 CT C . . ALLELEID=246844;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362631del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255332 13 32362635 252449 AAGGAATTTGC A . . ALLELEID=246845;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362636_32362645del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=879255333 13 32362638 254614 G T . . ALLELEID=249048;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362638G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038177 13 32362638 126162 GAATTT AG . . ALLELEID=131700;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362638_32362643delinsAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8149&base_change%3Ddel_6_ins_AG;GENEINFO=BRCA2:675;ORIGIN=1;RS=276174897 13 32362640 52435 AT A . . ALLELEID=67103;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362643del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507944 13 32362650 267043 A T . . ALLELEID=261441;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362650A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876658889 13 32362650 52440 AG A . . ALLELEID=67108;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32362651del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_16934_605|Breast_Cancer_Information_Core__(BRCA2):8162&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359688 13 32362654 548339 G GC . . ALLELEID=538730;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362656dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286861 13 32362657 236284 T TC . . ALLELEID=237826;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362657_32362658insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853304 13 32362658 52444 A C . . ALLELEID=67112;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362658A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174898 13 32362660 216857 GC G . . ALLELEID=213075;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362663del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=863224828 13 32362661 427408 C T . . ALLELEID=416364;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362661C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692131 13 32362663 267044 C CA . . ALLELEID=261442;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362664dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040736 13 32362664 52445 A G . . AF_EXAC=0.00001;ALLELEID=67113;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362664A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359799 13 32362665 254615 GA G . . ALLELEID=249049;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362668del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038178 13 32362668 52446 AG A . . ALLELEID=67114;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362671del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8182&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359689 13 32362679 52449 TC T . . ALLELEID=67117;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32362680del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507945 13 32362680 38128 C T . . ALLELEID=46684;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362680C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507395 13 32362688 215618 A G . . ALLELEID=213076;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362688A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224312 13 32362691 267045 C A . . ALLELEID=261443;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32362691C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359025 13 32362691 38129 C G . . ALLELEID=46685;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32362691C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359025 13 32362692 38130 A G . . ALLELEID=46686;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32362692A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359026 13 32362693 52455 G C . . ALLELEID=67123;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32362693G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359027 13 32362694 52452 G A . . ALLELEID=67120;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32362694G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8204+1&base_change%3DG_to_A;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=81002873 13 32362716 52453 C T . . ALLELEID=67121;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32362716C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8204+23&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183623188 13 32363177 52460 AGATAT A . . ALLELEID=67128;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363182_32363186del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;ORIGIN=1;RS=397507950 13 32363178 38132 G C . . ALLELEID=46688;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363178G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290716|Breast_Cancer_Information_Core__(BRCA2):8205-1&base_change%3DG_to_C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2743464;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002874 13 32363178 182321 GATATGATACGGAA G . . ALLELEID=180660;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32363181_32363193del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5172558;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881614 13 32363182 431339 T A . . ALLELEID=424768;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363182T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290728;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507949 13 32363182 184086 T C . . ALLELEID=184001;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32363182T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=397507949 13 32363182 52459 T G . . ALLELEID=67127;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363182T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507949 13 32363185 267046 T TA . . ALLELEID=261444;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363186dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040737 13 32363187 267047 CG C . . ALLELEID=261445;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363189del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913448;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040738 13 32363189 254616 G T . . ALLELEID=249050;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363189G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359030 13 32363189 254617 GA G . . ALLELEID=249051;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363192del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038179 13 32363190 52462 A T . . ALLELEID=67130;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32363190A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2324696|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290734;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359031 13 32363191 184201 A G . . ALLELEID=184003;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363191A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201332 13 32363194 52463 T A . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=67131;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32363194T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359800 13 32363194 52464 T C . . ALLELEID=67132;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32363194T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359800 13 32363196 38134 A G . . AF_ESP=0.00046;AF_EXAC=0.00013;AF_TGP=0.00020;ALLELEID=46690;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32363196A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:846440;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897745 13 32363197 215619 T C . . AF_EXAC=0.00003;ALLELEID=213077;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363197T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200757418 13 32363198 52465 A T . . ALLELEID=67133;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363198A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359032 13 32363199 422131 GA G . . ALLELEID=408987;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363201del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913449;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795578 13 32363203 52469 C CAGAAGAT . . ALLELEID=67137;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363204_32363210dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507951 13 32363203 184813 C T . . ALLELEID=184004;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363203C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201710 13 32363204 52468 A T . . ALLELEID=67136;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32363204A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174900 13 32363204 431340 AG TA . . ALLELEID=424769;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363204_32363205delinsTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=1135401922 13 32363207 267049 AGATCGGCTATAAAAAAGATAATG A . . ALLELEID=261446;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363210_32363232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040740 13 32363210 232186 TC T . . ALLELEID=234965;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363211del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659606 13 32363211 52470 C A . . ALLELEID=67138;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363211C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290752;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359035 13 32363211 254619 CGGCTATAAAAAAGATAATGGAAA C . . ALLELEID=249052;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363214_32363236del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8238&base_change%3Ddel_23;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359690 13 32363212 183837 G A . . AF_ESP=0.00023;AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=184006;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32363212G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2471317|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2403116;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146430937 13 32363217 267050 T TA . . ALLELEID=261447;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363223dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4913454;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507952 13 32363217 52474 TA T . . ALLELEID=67142;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363223del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507952 13 32363217 52473 TAA T . . ALLELEID=67141;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363222_32363223del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507952 13 32363222 254618 AAG A . . ALLELEID=249053;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363224_32363225del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038180 13 32363225 52475 A G . . ALLELEID=67143;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363225A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507954 13 32363229 52477 TG T . . ALLELEID=67145;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363231del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913457|Breast_Cancer_Information_Core__(BRCA2):8257&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359691 13 32363230 52476 GGA G . . ALLELEID=67144;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363231_32363232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507955 13 32363233 52479 A AAG . . ALLELEID=67147;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363234_32363235dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507956 13 32363240 52483 GAC G . . ALLELEID=67151;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32363242CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8270&base_change%3Ddel_CA|Invitae:4913460;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174901 13 32363248 52484 T TGCAAAAAC . . ALLELEID=67152;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363249_32363256dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507957 13 32363250 52487 C CA . . ALLELEID=67155;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363255dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507958 13 32363250 548384 C CT . . ALLELEID=538731;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363250_32363251insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286967 13 32363250 52486 CA C . . ALLELEID=67154;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363255del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1412761;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507958 13 32363251 267051 A AT . . ALLELEID=261448;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363251_32363252insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040742 13 32363257 233014 A T . . ALLELEID=234967;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363257A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660133 13 32363257 267052 AC A . . ALLELEID=261449;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363258del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040743 13 32363258 52490 CT C . . ALLELEID=67158;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363260del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8286&base_change%3Ddel_T|Invitae:4913463;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359692 13 32363262 52492 TTC T . . ALLELEID=67160;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363264CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507961 13 32363263 184776 T C . . AF_EXAC=0.00001;ALLELEID=184008;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363263T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776992904 13 32363266 52495 CTG C . . ALLELEID=67163;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363268GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:3269045|Breast_Cancer_Information_Core__(BRCA2):8296&base_change%3Ddel_GT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359694 13 32363268 267054 G GTT . . ALLELEID=261450;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363269_32363270insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040745 13 32363268 52494 GT G . . ALLELEID=67162;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363269del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8295&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359693 13 32363269 52493 T A . . ALLELEID=67161;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363269T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359046 13 32363270 52496 G GTT . . ALLELEID=67164;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363272_32363273dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507962 13 32363272 52498 TTC T . . ALLELEID=67166;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363274_32363275del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507963 13 32363286 52499 C G . . ALLELEID=67167;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363286C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359048 13 32363287 52502 AT A . . ALLELEID=67170;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363289del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8315&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359695 13 32363288 186319 T C . . AF_EXAC=0.00001;ALLELEID=184009;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363288T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767912817 13 32363288 440425 TTGAGCGCAAATATATC T . . ALLELEID=434066;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363292_32363307del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555286989 13 32363289 52501 T A . . ALLELEID=67169;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32363289T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359050 13 32363293 184499 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=184010;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363293C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140782158 13 32363305 52506 T G . . ALLELEID=67174;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363305T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8331&base_change%3DT_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359801 13 32363314 267055 T TA . . ALLELEID=261451;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363315dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040746 13 32363320 184162 T C . . AF_EXAC=0.00002;ALLELEID=184011;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363320T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2588083;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758549180 13 32363326 135817 T G . . ALLELEID=139529;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363326T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:145324;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780662 13 32363331 52508 GT G . . ALLELEID=67176;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363332del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8358&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359696 13 32363342 52511 C T . . ALLELEID=67179;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363342C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359058 13 32363342 431341 CA C . . ALLELEID=424770;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363347del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401923 13 32363345 216032 A T . . ALLELEID=213078;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363345A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=863224469 13 32363351 41564 G T . . AF_ESP=0.00146;AF_TGP=0.00060;ALLELEID=50003;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32363351G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:454588|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:21045;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897747 13 32363353 216261 C T . . AF_EXAC=0.00001;ALLELEID=213079;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363353C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=774808067 13 32363356 136569 T C . . AF_ESP=0.00015;AF_EXAC=0.00006;ALLELEID=140272;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363356T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:137648|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830243|Illumina_Laboratory_Services,Illumina:574954;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148880015 13 32363359 184206 T C . . ALLELEID=184012;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363359T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881563 13 32363360 267056 G GAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTT . . ALLELEID=261452;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363362_32363398dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040747 13 32363365 184856 T C . . ALLELEID=184013;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363365T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201741 13 32363365 267057 TA T . . ALLELEID=261453;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363366del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040748 13 32363367 9340 C G . . ALLELEID=24379;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN239275|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|BRCA2-Related_Disorders|not_provided;CLNHGVS=NC_000013.11:g.32363367C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:809670|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829606|OMIM_Allelic_Variant:600185.0025;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359062 13 32363368 184718 A C . . ALLELEID=184014;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363368A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201640 13 32363369 52515 G C . . ALLELEID=67183;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Malignant_tumor_of_breast|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32363369G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:51770|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290800;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41293511 13 32363370 52518 A ATGGG . . ALLELEID=67186;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32363374_32363377dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507964 13 32363370 38141 A G . . ALLELEID=46697;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32363370A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41293513 13 32363376 182273 G A . . ALLELEID=180665;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363376G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=730881581 13 32363376 182322 GGTATGCTGTTA TT . . ALLELEID=180666;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363376_32363387delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881615 13 32363377 52519 G A . . ALLELEID=67187;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32363377G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507965 13 32363380 254620 T A . . ALLELEID=249054;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363380T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290806;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=761595544 13 32363384 41565 G A . . AF_ESP=0.00331;AF_TGP=0.00060;ALLELEID=50004;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32363384G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:130517|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460156|HGMD:CM004715|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:41895;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897749 13 32363389 126167 G A . . ALLELEID=131705;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32363389G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359065 13 32363389 38142 G T . . AF_EXAC=0.00082;AF_TGP=0.00260;ALLELEID=46698;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32363389G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600185.0022|Illumina_Laboratory_Services,Illumina:551371;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359065 13 32363393 52525 C T . . ALLELEID=67193;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32363393C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507966 13 32363395 267058 GTTAGATCC G . . ALLELEID=261455;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363397_32363404del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040749 13 32363397 267059 T A . . ALLELEID=261454;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363397T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507967 13 32363397 52526 T G . . ALLELEID=67194;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363397T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507967 13 32363400 91504 ATCCTCCCCTC A . . ALLELEID=96981;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363402_32363411del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5935207|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837722;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122599 13 32363401 267060 TC T . . ALLELEID=261456;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363403del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040750 13 32363404 52527 T TC . . ALLELEID=67195;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363408dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507396 13 32363404 430598 TC T . . ALLELEID=423246;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363408del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507396 13 32363404 38143 TCC T . . ALLELEID=46699;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363407_32363408del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507396 13 32363408 52528 CT C . . ALLELEID=67196;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363409del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507969 13 32363409 548393 T TAG . . ALLELEID=538733;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363409_32363410insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555287043 13 32363410 126169 C CAG . . ALLELEID=131707;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363410_32363411insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290812|Breast_Cancer_Information_Core__(BRCA2):8436&base_change%3Dins_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=483353122 13 32363416 184576 T C . . ALLELEID=184016;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363416T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201546 13 32363419 126170 C CT . . ALLELEID=131708;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363421dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8447&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359697 13 32363421 9343 T A . . ALLELEID=24382;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363421T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600185.0028;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359070 13 32363424 236913 AG A . . ALLELEID=241719;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363425del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853608 13 32363429 548418 G GA . . ALLELEID=538734;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363429_32363430insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555287052 13 32363432 52532 AGACT A . . ALLELEID=67200;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363436_32363439del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8462&base_change%3Ddel_TGAC|Invitae:4913488;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359699 13 32363435 52533 C CT . . ALLELEID=67201;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363436dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8462&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174903 13 32363437 52534 GAC G . . ALLELEID=67202;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363439_32363440del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913490|Breast_Cancer_Information_Core__(BRCA2):8465&base_change%3Ddel_CA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359700 13 32363439 267061 CAGTT C . . ALLELEID=261457;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363440_32363443del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040751 13 32363440 215620 A C . . ALLELEID=213080;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363440A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224313 13 32363445 52535 G A . . ALLELEID=67203;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32363445G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359071 13 32363447 431343 C T . . ALLELEID=424772;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363447C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290830;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1135401925 13 32363447 52536 CAG C . . ALLELEID=67204;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363449_32363450del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8474&base_change%3Ddel_AG|Invitae:1339163|Breast_Cancer_Information_Core__(BRCA2):8475&base_change%3Ddel_GA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359701 13 32363449 185291 G A . . ALLELEID=184018;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363449G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202060 13 32363449 548390 GA G . . ALLELEID=538735;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363451del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555287062 13 32363453 38146 A AT . . ALLELEID=46702;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363455dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:6253942|Breast_Cancer_Information_Core__(BRCA2):8481&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359704 13 32363455 427442 T C . . AF_EXAC=0.00001;ALLELEID=416365;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363455T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757501907 13 32363467 427517 A T . . AF_EXAC=0.00001;ALLELEID=416366;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363467A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=781363913 13 32363470 236916 A C . . AF_EXAC=0.00001;ALLELEID=241721;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363470A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746260964 13 32363474 267062 CT TA . . ALLELEID=261458;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363474_32363475delinsTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040752 13 32363475 267063 TGGTG T . . ALLELEID=261459;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363478_32363481del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040753 13 32363476 427510 G C . . AF_EXAC=0.00001;ALLELEID=416367;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363476G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770137271 13 32363481 267064 G GCT . . ALLELEID=261460;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363483TC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040754 13 32363485 391005 T C . . AF_EXAC=0.00001;ALLELEID=373771;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363485T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776062931 13 32363485 52540 TC T . . ALLELEID=67208;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363487del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507972 13 32363488 229936 T G . . ALLELEID=234979;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363488T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658282 13 32363491 267065 T TG . . ALLELEID=261461;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363492dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040755 13 32363494 427460 C T . . AF_EXAC=0.00001;ALLELEID=416368;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363494C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749871912 13 32363497 267066 T A . . ALLELEID=261462;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363497T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040756 13 32363497 52541 T TAC . . ALLELEID=67209;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363498AC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507973 13 32363498 38149 AC A . . ALLELEID=46705;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363499del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8525&base_change%3Ddel_C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2450435|OMIM_Allelic_Variant:600185.0007;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359705 13 32363500 182297 A G . . ALLELEID=180669;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32363500A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842075;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881594 13 32363502 267067 CT C . . ALLELEID=261463;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363503del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040757 13 32363509 91506 AG A . . ALLELEID=96983;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363510del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122601 13 32363510 52542 G A . . ALLELEID=67210;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363510G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397507974 13 32363510 252854 GC G . . ALLELEID=247255;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363514del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;ORIGIN=1;RS=879255469 13 32363516 52543 G T . . ALLELEID=67211;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363516G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507975 13 32363516 52544 GAATCTCTTATGTTA G . . ALLELEID=67212;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32363519_32363532del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507976 13 32363517 267068 A AAT . . ALLELEID=261464;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363518_32363519dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040758 13 32363522 38153 C CT . . ALLELEID=46709;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363524dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8550&base_change%3Dins_T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840233|Invitae:3631491;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359706 13 32363524 126174 T TA . . ALLELEID=131712;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32363525dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8551&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174904 13 32363526 267070 T TA . . ALLELEID=261465;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363526_32363527insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040760 13 32363528 267071 TTAAAG T . . ALLELEID=261466;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363529_32363533del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040761 13 32363529 52548 T G . . ALLELEID=67216;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32363529T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507977 13 32363529 267073 TA T . . ALLELEID=261468;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32363532del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913502;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040762 13 32363531 267072 A T . . ALLELEID=261467;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32363531A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886037818 13 32363531 52549 AAG A . . ALLELEID=67217;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32363532_32363533del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507978 13 32363642 209777 G A . . AF_TGP=0.00819;ALLELEID=206003;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363642G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571719 13 32363866 209778 A G . . AF_TGP=0.01558;ALLELEID=206004;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32363866A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571721 13 32364036 209779 A C . . AF_TGP=0.07268;ALLELEID=206005;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364036A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571722 13 32364237 209780 G GT . . ALLELEID=206006;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364246dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201664419 13 32364315 209781 A G . . AF_TGP=0.00779;ALLELEID=206007;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364315A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146753854 13 32364476 264883 T G . . AF_TGP=0.00280;ALLELEID=259480;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364476T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=140346021 13 32364532 209782 T A . . AF_TGP=0.00998;ALLELEID=206008;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364532T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571723 13 32364618 209783 C CT . . AF_TGP=0.21046;ALLELEID=206009;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364619dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3092990 13 32364744 209784 A G . . AF_TGP=0.23243;ALLELEID=206010;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364744A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571725 13 32364848 209785 C T . . AF_TGP=0.00998;ALLELEID=206011;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364848C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571726 13 32364948 209786 C T . . AF_TGP=0.07268;ALLELEID=206012;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32364948C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571727 13 32365149 209787 T G . . AF_TGP=0.20727;ALLELEID=206013;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32365149T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534269 13 32365165 209788 G A . . AF_TGP=0.22065;ALLELEID=206014;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32365165G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206099 13 32365177 209943 C T . . AF_TGP=0.51777;ALLELEID=206015;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32365177C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534270 13 32365247 264927 AC A . . AF_TGP=0.00200;ALLELEID=259481;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32365248del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=550559376 13 32366142 209789 G A . . AF_TGP=0.00719;ALLELEID=206016;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32366142G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113088803 13 32366208 209944 C A . . AF_TGP=0.51797;ALLELEID=206017;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32366208C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534275 13 32366257 209790 A C . . AF_TGP=0.00819;ALLELEID=206018;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32366257A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571730 13 32366385 264934 T C . . AF_TGP=0.00739;ALLELEID=259482;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32366385T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571731 13 32366751 209791 C T . . AF_TGP=0.20887;ALLELEID=206019;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32366751C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571734 13 32366755 264935 G GAGGT . . AF_TGP=0.01418;ALLELEID=259483;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32366756_32366759dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571736 13 32366868 264861 CA C . . ALLELEID=259484;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32366884del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35628833 13 32366979 209793 G T . . AF_TGP=0.00998;ALLELEID=206021;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32366979G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114749873 13 32367008 209794 A G . . AF_TGP=0.00679;ALLELEID=206022;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32367008A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11839855 13 32367159 209795 G T . . AF_TGP=0.00899;ALLELEID=206023;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32367159G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116116976 13 32367304 209796 C T . . AF_TGP=0.01118;ALLELEID=206024;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32367304C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117384844 13 32367440 264939 GA G . . ALLELEID=259485;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32367450del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=372239729 13 32367486 209797 A G . . AF_TGP=0.00899;ALLELEID=206025;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32367486A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114806352 13 32367579 209798 A AGATGGCTTG . . AF_TGP=0.51777;ALLELEID=206026;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32367579_32367580insGATGGCTTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=61340698 13 32367646 209799 T G . . AF_TGP=0.00339;ALLELEID=206027;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32367646T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149912422 13 32367964 209800 C T . . AF_TGP=0.00579;ALLELEID=206028;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32367964C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139834007 13 32368300 209801 T G . . AF_TGP=0.10124;ALLELEID=206029;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368300T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=76370881 13 32368453 209802 T C . . AF_TGP=0.00899;ALLELEID=206030;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368453T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117760836 13 32368578 209803 C T . . AF_TGP=0.00699;ALLELEID=206031;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368578C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=118187652 13 32368799 264975 T G . . AF_TGP=0.04153;ALLELEID=259486;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368799T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12869093 13 32368807 209804 T TG . . ALLELEID=206032;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368807_32368808insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199662630 13 32368808 264873 T G . . AF_TGP=0.94469;ALLELEID=259487;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368808T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=811637 13 32368810 264876 G T . . AF_TGP=0.94469;ALLELEID=259488;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368810G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12868315 13 32368811 264906 T G . . AF_TGP=0.22404;ALLELEID=259489;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368811T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=169546 13 32368879 264879 C T . . AF_TGP=0.00260;ALLELEID=259490;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368879C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=185686056 13 32368935 209805 C T . . AF_TGP=0.02396;ALLELEID=206033;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368935C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143161038 13 32368998 209806 C T . . AF_TGP=0.07268;ALLELEID=206034;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32368998C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=75649145 13 32369041 209807 C G . . AF_TGP=0.00639;ALLELEID=206035;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32369041C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534286 13 32369205 209808 TAA T . . ALLELEID=206036;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32369207_32369208del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=68016733 13 32369218 264916 AT A . . ALLELEID=259491;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32369229del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200007569 13 32369612 209809 C A . . AF_TGP=0.00839;ALLELEID=206037;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32369612C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571738 13 32369645 209810 C T . . AF_TGP=0.07348;ALLELEID=206038;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32369645C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571739 13 32369699 209811 G A . . AF_TGP=0.01997;ALLELEID=206039;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32369699G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571740 13 32369919 209812 G T . . AF_TGP=0.22584;ALLELEID=206040;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32369919G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9634672 13 32369961 209813 G A . . AF_TGP=0.17991;ALLELEID=206041;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32369961G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571742 13 32370408 52556 GCTAA G . . ALLELEID=67224;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32370410_32370413del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8568&base_change%3Ddel_TAAC|Invitae:3344319;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359707 13 32370412 52557 AC A . . ALLELEID=67225;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370413del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8571&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359708 13 32370416 267074 TA T . . ALLELEID=261469;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370417del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040763 13 32370417 52558 A AC . . ALLELEID=67226;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32370418dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507980 13 32370417 267075 AC A . . ALLELEID=261470;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370418del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040764 13 32370422 186632 G A . . AF_EXAC=0.00001;ALLELEID=184025;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32370422G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747664806 13 32370422 231085 G T . . ALLELEID=234985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32370422G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:172347;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747664806 13 32370425 232875 TG T . . ALLELEID=234986;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370426del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660043 13 32370431 267076 CTG C . . ALLELEID=261471;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370432_32370433del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040765 13 32370433 52564 G A . . ALLELEID=67232;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32370433G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359080 13 32370434 52566 G A . . ALLELEID=67234;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32370434G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290896|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842539;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507981 13 32370437 184836 T C . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=184028;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32370437T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2610923;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201057885 13 32370443 427482 A G . . AF_EXAC=0.00001;ALLELEID=416369;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32370443A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759420926 13 32370443 91510 AC A . . ALLELEID=96987;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370444del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122605 13 32370444 267077 CTTGGATTCTT A . . ALLELEID=261472;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370444_32370454delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040766 13 32370444 548403 CTTGGATTCTT AAG . . ALLELEID=538736;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370444_32370454delinsAAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040766 13 32370444 441402 CTTGGATTCTT AGG . . ALLELEID=435074;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370444_32370454delinsAGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040766 13 32370447 254621 G T . . ALLELEID=249055;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370447G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359082 13 32370448 254622 G AA . . ALLELEID=249056;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370448delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038182 13 32370449 427402 A G . . ALLELEID=416370;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32370449A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692126 13 32370452 267078 CT C . . ALLELEID=261473;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370455del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040767 13 32370453 141363 TTTCCTGACCCTA T . . ALLELEID=151077;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370454_32370465del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587781689 13 32370458 267080 TGACCCTA T . . ALLELEID=261475;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370463_32370469del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040769 13 32370460 267081 A AC . . ALLELEID=261476;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370463dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040770 13 32370462 267079 C CCTAG . . ALLELEID=261474;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370463_32370466dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040768 13 32370464 52574 TA T . . ALLELEID=67242;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_carcinoma|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370465del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8623&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359709 13 32370464 52573 TAG AA . . ALLELEID=67241;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32370464_32370466delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8622&base_change%3Ddel_TAG_ins_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174907 13 32370465 440435 A AG . . ALLELEID=434067;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370466dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555287629 13 32370465 267082 A T . . ALLELEID=261477;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370465A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040771 13 32370470 430597 TTT AAAA . . ALLELEID=423245;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370470_32370472delinsAAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=483353077 13 32370471 267083 TTT AAAA . . ALLELEID=261478;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370471_32370473delinsAAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040772 13 32370482 427516 C T . . AF_EXAC=0.00001;ALLELEID=416371;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32370482C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780514435 13 32370483 52579 TTA T . . ALLELEID=67247;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32370485_32370486del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507402 13 32370484 52580 T TA . . ALLELEID=67248;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32370485dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507985 13 32370484 38159 TAT C . . ALLELEID=46715;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32370484_32370486delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507402 13 32370485 224524 ATCATCGCTTT A . . ALLELEID=226353;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370489_32370498del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869312760 13 32370490 216033 C A . . ALLELEID=213081;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370490C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=55763607 13 32370491 182299 G A . . AF_ESP=0.00008;AF_EXAC=0.00040;AF_TGP=0.00000;ALLELEID=180671;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32370491G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830941|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2218878;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371278843 13 32370492 409460 C CT . . ALLELEID=399382;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370496dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555287643 13 32370494 230918 T C . . ALLELEID=234989;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370494T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658841 13 32370497 186455 C T . . ALLELEID=184030;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32370497C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202966 13 32370503 548391 T TC . . ALLELEID=538737;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370503_32370504insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555287644 13 32370504 267085 G GC . . ALLELEID=261479;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370504_32370505insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040774 13 32370505 52587 G GA . . ALLELEID=67255;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370506dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8664&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359710 13 32370506 267086 AG A . . ALLELEID=261480;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370508del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040775 13 32370512 427371 T C . . ALLELEID=416372;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32370512T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692106 13 32370521 52591 T A . . ALLELEID=67259;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370521T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507987 13 32370521 427403 T C . . ALLELEID=416373;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370521T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=397507987 13 32370530 52594 A C . . AF_ESP=0.01299;AF_EXAC=0.00368;AF_TGP=0.01438;ALLELEID=67262;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32370530A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:738681|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28553;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=9590940 13 32370530 427397 A G . . ALLELEID=416374;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370530A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=9590940 13 32370531 52596 A AT . . ALLELEID=67264;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370533dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507988 13 32370531 96867 AT A . . ALLELEID=102770;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32370533del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:483760;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507988 13 32370534 267088 A AT . . ALLELEID=261481;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370536dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040777 13 32370540 267089 A T . . ALLELEID=261482;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370540A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290932;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040778 13 32370543 52597 GC G . . ALLELEID=67265;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370544del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8702&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359711 13 32370548 254623 C A . . AF_EXAC=0.00001;ALLELEID=249057;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32370548C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=776353983 13 32370548 267090 C G . . ALLELEID=261483;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370548C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=776353983 13 32370555 52600 C T . . ALLELEID=67268;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370555C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359099 13 32370558 52602 G A . . ALLELEID=67270;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32370558G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830303|Breast_Cancer_Information_Core__(BRCA2):8715+1&base_change%3DG_to_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290944;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=81002798 13 32370576 126178 A G . . AF_ESP=0.01276;AF_EXAC=0.00334;AF_TGP=0.01018;ALLELEID=131716;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32370576A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-8|Breast_Cancer_Information_Core__(BRCA2):8715+19&base_change%3DA_to_G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:55602;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571743 13 32370604 126179 C T . . AF_ESP=0.01523;AF_TGP=0.01617;ALLELEID=131717;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32370604C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8715+47&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571744 13 32370639 264944 G A . . AF_TGP=0.00499;ALLELEID=259492;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370639G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142947698 13 32370848 209814 C T . . AF_TGP=0.00260;ALLELEID=206042;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32370848C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571745 13 32370954 254624 AGT A . . ALLELEID=249058;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370956_32370957del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;ORIGIN=1;RS=886038183 13 32370955 38164 G A . . ALLELEID=46720;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32370955G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600185.0017|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290950;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=17;RS=397507404 13 32370957 52605 G A . . ALLELEID=67273;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32370957G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855573;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359101 13 32370958 155722 G A . . ALLELEID=165476;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32370958G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846011;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=7;RS=587776351 13 32370965 441354 A T . . ALLELEID=435078;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370965A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555287732 13 32370967 187245 G A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=184034;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32370967G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2431513;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=558819788 13 32370968 38166 AC A . . ALLELEID=46722;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370969del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8729&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359712 13 32370971 52606 T C . . AF_ESP=0.00231;AF_EXAC=0.00073;AF_TGP=0.00140;ALLELEID=67274;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32370971T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:93053|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:68027;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=11571746 13 32370972 52607 C A . . ALLELEID=67275;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32370972C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855845;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359102 13 32370972 267091 C G . . ALLELEID=261484;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370972C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359102 13 32370972 52608 CA C . . ALLELEID=67276;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370973del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8733&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359713 13 32370973 385641 A G . . AF_EXAC=0.00002;ALLELEID=373497;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32370973A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=765655952 13 32370976 215621 T C . . ALLELEID=213083;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32370976T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224314 13 32370981 267092 T A . . ALLELEID=261485;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370981T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040779 13 32370981 267093 T G . . ALLELEID=261486;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32370981T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040779 13 32370982 230261 A G . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=234998;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32370982A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=544212043 13 32370985 267094 C A . . ALLELEID=261487;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370985C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=863224315 13 32370985 215622 C T . . ALLELEID=213084;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32370985C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224315 13 32370985 267095 CA C . . ALLELEID=261488;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32370986del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040780 13 32370988 427544 A C . . AF_EXAC=0.00001;ALLELEID=416375;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32370988A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752179294 13 32370993 52611 G A . . AF_TGP=0.00020;ALLELEID=67279;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32370993G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724096;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359105 13 32370994 52613 CA C . . ALLELEID=67281;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32370996del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507989 13 32370998 438382 G GA . . ALLELEID=432007;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371001dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507990 13 32370998 52614 GAA G . . ALLELEID=67282;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32371000_32371001del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913542;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507990 13 32371000 9328 AAG A . . ALLELEID=24367;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32371001AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:165830|OMIM_Allelic_Variant:600185.0012|Breast_Cancer_Information_Core__(BRCA2):8761&base_change%3Ddel_AG|Breast_Cancer_Information_Core__(BRCA2):8765&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359714 13 32371000 52615 AAGAG A . . ALLELEID=67283;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32371001AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1696058|Breast_Cancer_Information_Core__(BRCA2):8763&base_change%3Ddel_AGAG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359714 13 32371004 267096 G T . . ALLELEID=261489;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371004G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040781 13 32371010 52618 GA G . . ALLELEID=67286;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32371014del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507991 13 32371012 38167 AAAGG A . . ALLELEID=46723;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32371016_32371019del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:170991|Invitae:2078550;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507406 13 32371015 415644 G A . . AF_EXAC=0.00001;ALLELEID=400122;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371015G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749039580 13 32371025 372573 A T . . ALLELEID=360060;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32371025A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057517865 13 32371027 52620 AT A . . ALLELEID=67288;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32371028del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8788&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359717 13 32371028 52621 T TA . . ALLELEID=67289;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371029dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507992 13 32371029 267097 AT A . . ALLELEID=261490;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371030del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040782 13 32371030 184202 T C . . ALLELEID=184037;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371030T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201333 13 32371032 267098 TG T . . ALLELEID=261491;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371034del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6587160;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040783 13 32371033 185880 G A . . ALLELEID=184038;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371033G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202532 13 32371033 232747 G C . . ALLELEID=235003;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32371033G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202532 13 32371034 225754 GA C . . ALLELEID=227550;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371034_32371035delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320798 13 32371037 267099 GC G . . ALLELEID=261492;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371040del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040784 13 32371040 52624 C T . . ALLELEID=67292;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371040C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290968;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359112 13 32371042 38169 AC A . . ALLELEID=46725;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32371043del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8803&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359718 13 32371043 52626 C T . . ALLELEID=67294;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32371043C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:290980;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359115 13 32371043 52627 CA C . . ALLELEID=67295;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371047del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913545;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359719 13 32371043 126183 CAA C . . ALLELEID=131721;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371046_32371047del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8806&base_change%3Ddel_AA|Invitae:10078857;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359719 13 32371049 91515 A T . . ALLELEID=96992;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32371049A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122608 13 32371052 38170 C CT . . ALLELEID=46726;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32371053dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1010148|Breast_Cancer_Information_Core__(BRCA2):8813&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359720 13 32371052 427383 C T . . ALLELEID=416376;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371052C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692114 13 32371052 236920 CTA C . . ALLELEID=241725;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371053_32371054del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853611 13 32371058 548440 GC G . . ALLELEID=538738;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371060del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555287781 13 32371060 52631 C CT . . ALLELEID=67299;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32371062dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1012675|Breast_Cancer_Information_Core__(BRCA2):8821&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359721 13 32371060 427506 C T . . AF_EXAC=0.00001;ALLELEID=416377;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32371060C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776881072 13 32371062 52630 T A . . ALLELEID=67298;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371062T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359118 13 32371068 52633 C CT . . ALLELEID=67301;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32371069dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507995 13 32371073 409569 AT A . . ALLELEID=399460;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371075del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1065069;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502471 13 32371075 184422 T C . . ALLELEID=184039;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371075T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201453 13 32371076 141787 C T . . ALLELEID=151501;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371076C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=587782010 13 32371081 427419 G A . . ALLELEID=416378;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371081G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692139 13 32371088 52635 G T . . ALLELEID=67303;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371088G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507996 13 32371097 52636 G T . . ALLELEID=67304;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371097G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359121 13 32371101 52638 G A . . ALLELEID=67306;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32371101G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397507997 13 32371231 209815 T TC . . AF_TGP=0.00899;ALLELEID=206043;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32371232dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201392123 13 32371400 209816 A T . . AF_TGP=0.17013;ALLELEID=206044;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32371400A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10492395 13 32371432 209817 T A . . ALLELEID=206045;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371432T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=184287231 13 32371474 209818 C T . . AF_TGP=0.00060;ALLELEID=206046;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371474C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139210671 13 32371492 209819 T C . . AF_TGP=0.01418;ALLELEID=206047;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371492T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571748 13 32371580 209820 A G . . AF_TGP=0.22544;ALLELEID=206048;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371580A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9567609 13 32371795 209821 C T . . AF_TGP=0.20887;ALLELEID=206049;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371795C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=573014 13 32371842 209822 A T . . AF_TGP=0.00899;ALLELEID=206050;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371842A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571751 13 32371874 209945 A G . . AF_TGP=0.97604;ALLELEID=206051;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32371874A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206067 13 32372082 209823 G A . . AF_TGP=0.00819;ALLELEID=206052;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32372082G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571752 13 32372278 209946 C T . . AF_TGP=0.97604;ALLELEID=206053;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32372278C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206068 13 32372283 209824 A G . . AF_TGP=0.01018;ALLELEID=206054;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32372283A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=112870240 13 32372447 264872 C T . . AF_TGP=0.00679;ALLELEID=259493;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32372447C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=372507971 13 32372668 209825 G A . . AF_TGP=0.19748;ALLELEID=206055;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32372668G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=61946969 13 32372996 264946 C CT . . ALLELEID=259494;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32373010dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35596121 13 32373331 209826 C T . . AF_TGP=0.00899;ALLELEID=206056;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32373331C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=140438658 13 32373523 209827 A T . . AF_TGP=0.00359;ALLELEID=206057;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32373523A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150493955 13 32373524 209828 A T . . AF_TGP=0.02097;ALLELEID=206058;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32373524A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=138326030 13 32373717 209829 C G . . AF_TGP=0.00799;ALLELEID=206059;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32373717C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182505124 13 32374083 264979 T G . . AF_TGP=0.00519;ALLELEID=259495;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32374083T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=189608242 13 32374128 209830 A G . . AF_TGP=0.00679;ALLELEID=206060;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32374128A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571753 13 32375245 209947 T C . . AF_TGP=0.52756;ALLELEID=206061;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32375245T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534318 13 32375396 209831 A G . . AF_EXAC=0.00402;AF_TGP=0.00260;ALLELEID=206062;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32375396A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150600452 13 32375530 209832 C G . . AF_TGP=0.00419;ALLELEID=206063;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32375530C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=140570300 13 32375563 264901 C CT . . ALLELEID=259496;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32375577dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=398022219 13 32375662 264967 G A . . AF_TGP=0.00339;ALLELEID=259497;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32375662G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=536781751 13 32375718 209833 G A . . AF_TGP=0.00539;ALLELEID=206064;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32375718G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571756 13 32375831 264974 A ATTAC . . AF_TGP=0.01478;ALLELEID=259498;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32375832_32375835dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34816981 13 32376115 264949 GTGAAA G . . ALLELEID=259499;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376117_32376121del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=540494622 13 32376120 209948 A G . . AF_TGP=0.50958;ALLELEID=206066;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376120A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534323 13 32376194 264896 T A . . AF_TGP=0.00260;ALLELEID=259500;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376194T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=542635026 13 32376413 264981 C A . . AF_TGP=0.00459;ALLELEID=259501;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376413C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571758 13 32376642 267703 TGAATTAATAATCCTTTTGTTTTCTTA T . . ALLELEID=262845;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32376646_32376671del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6358991;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=886040945 13 32376668 38172 A G . . ALLELEID=46728;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376668A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8861-2&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002886 13 32376669 52646 G GA . . ALLELEID=67314;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376673dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8864&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359723 13 32376672 254625 AAC A . . ALLELEID=249059;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32376674CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2940212;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038184 13 32376678 548427 A ATT . . ALLELEID=538739;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376678_32376679insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288125 13 32376679 267101 CA C . . ALLELEID=261494;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32376683del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:7836546;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040785 13 32376679 267100 CAA C . . ALLELEID=261493;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376682_32376683del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040785 13 32376680 427434 A G . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416379;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376680A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=569080122 13 32376681 52648 A T . . ALLELEID=67316;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32376681A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508000 13 32376681 52649 AAACC A . . ALLELEID=67317;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32376683_32376686del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508001 13 32376683 254626 AC A . . ALLELEID=249060;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376685del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8875&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174910 13 32376686 185303 A G . . ALLELEID=184041;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32376686A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202069 13 32376689 267102 T G . . ALLELEID=261495;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376689T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040787 13 32376690 184653 T C . . ALLELEID=184042;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32376690T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201594 13 32376691 431349 T TA . . ALLELEID=424778;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32376692dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401927 13 32376699 91732 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=97209;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32376699C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2415247;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359123 13 32376705 267103 C CT . . ALLELEID=261496;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376706dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040788 13 32376709 52656 CAA C . . ALLELEID=67324;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32376710_32376711del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8901&base_change%3Ddel_AA|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:199304;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359724 13 32376712 52657 GA G . . ALLELEID=67325;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376713del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8904&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359725 13 32376714 38177 C T . . ALLELEID=46733;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32376714C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507409 13 32376716 38178 GC G . . ALLELEID=46734;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32376717del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507410 13 32376717 52658 C T . . ALLELEID=67326;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32376717C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508002 13 32376725 427472 T C . . ALLELEID=416380;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376725T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692143 13 32376731 184652 G A . . AF_EXAC=0.00008;ALLELEID=184044;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32376731G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=556762256 13 32376732 38179 C T . . ALLELEID=46735;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32376732C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:142445;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507411 13 32376734 187403 A G . . ALLELEID=184045;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32376734A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203707 13 32376737 183979 T C . . ALLELEID=184046;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32376737T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201201 13 32376742 548407 C CAG . . ALLELEID=538740;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376743AG[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288165 13 32376744 441312 G T . . ALLELEID=435082;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32376744G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555288166 13 32376747 267104 C CAG . . ALLELEID=261497;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376747_32376748insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040789 13 32376749 52660 TTATG T . . ALLELEID=67328;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376750_32376753del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8941&base_change%3Ddel_TATG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359726 13 32376752 386902 T C . . AF_EXAC=0.00002;ALLELEID=373777;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32376752T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45555831 13 32376753 52661 GAA G . . ALLELEID=67329;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376754_32376755del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508003 13 32376755 219869 A G . . ALLELEID=222341;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32376755A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622287 13 32376766 52663 AT A . . ALLELEID=67331;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376767del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508004 13 32376771 812552 G A . . ALLELEID=800790;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376771G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1593934989 13 32376779 236921 A T . . ALLELEID=241726;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32376779A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878853612 13 32376780 126189 G GCTTA . . ALLELEID=131727;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32376782_32376785dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8976&base_change%3Dins_TTAC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359727 13 32376795 52669 A G . . ALLELEID=67337;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32376795A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8982+4&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=81002893 13 32376866 812553 A G . . ALLELEID=800796;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376866A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=575377419 13 32376960 209835 A G . . AF_TGP=0.00200;ALLELEID=206067;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32376960A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55817734 13 32376974 209836 A C . . AF_TGP=0.21286;ALLELEID=206068;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32376974A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3764791 13 32376978 209837 C T . . AF_TGP=0.22544;ALLELEID=206069;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32376978C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3764792 13 32377040 209838 G A . . AF_TGP=0.00419;ALLELEID=206070;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32377040G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571760 13 32377317 209839 C T . . AF_TGP=0.19728;ALLELEID=206071;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32377317C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9567623 13 32377459 209840 A C . . AF_TGP=0.20627;ALLELEID=206072;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32377459A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9526148 13 32377582 264956 C T . . AF_TGP=0.00899;ALLELEID=259502;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32377582C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571761 13 32377590 264984 CA C . . ALLELEID=259503;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32377607del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=796964470 13 32378219 209841 T C . . AF_TGP=0.00379;ALLELEID=206073;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32378219T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571764 13 32378309 209842 G C . . AF_TGP=0.00679;ALLELEID=206074;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32378309G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117168405 13 32378348 209843 A G . . AF_TGP=0.01837;ALLELEID=206075;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32378348A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571765 13 32378476 209844 T C . . AF_TGP=0.00998;ALLELEID=206076;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32378476T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571766 13 32378757 264943 G A . . AF_TGP=0.00300;ALLELEID=259504;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32378757G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114056196 13 32379045 209845 A G . . AF_TGP=0.07288;ALLELEID=206077;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32379045A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:18005;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942485 13 32379128 209846 G A . . AF_TGP=0.00859;ALLELEID=206078;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379128G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571767 13 32379251 126190 T C . . AF_TGP=0.51158;ALLELEID=131728;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32379251T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8983-66&base_change%3DT_to_C;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942486 13 32379315 52674 AG A . . ALLELEID=67342;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379318del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8984&base_change%3Ddel_G;GENEINFO=BRCA2:675;ORIGIN=1;RS=80359728 13 32379316 38183 G A . . ALLELEID=46739;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32379316G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):8983-1&base_change%3DG_to_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291034;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002812 13 32379321 548432 ATT A . . ALLELEID=538741;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379323_32379324del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288366 13 32379322 267105 T G . . ALLELEID=261498;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379322T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040790 13 32379324 254627 TCAGTGAAGAG T . . ALLELEID=249061;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379329_32379338del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038186 13 32379326 38186 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=46742;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379326A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854272;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359132 13 32379332 52675 G T . . ALLELEID=67343;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379332G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843239|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724112|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291040;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359133 13 32379334 215625 G A . . ALLELEID=213088;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379334G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224318 13 32379335 52676 C T . . ALLELEID=67344;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379335C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359134 13 32379339 267106 T A . . ALLELEID=261499;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379339T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040791 13 32379349 52680 GA G . . ALLELEID=67348;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379351del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9017&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359729 13 32379358 267107 CAGGCA C . . ALLELEID=261500;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379360_32379364del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040792 13 32379361 267108 GC G . . ALLELEID=261501;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379362del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040793 13 32379376 427487 T C . . AF_EXAC=0.00001;ALLELEID=416381;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379376T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749387616 13 32379376 52684 TAAGA T . . ALLELEID=67352;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379379_32379382del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508010 13 32379379 52685 GAAAC G . . ALLELEID=67353;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379382_32379385del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508011 13 32379383 52686 C T . . ALLELEID=67354;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379383C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508012 13 32379388 427401 T C . . ALLELEID=416382;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379388T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692125 13 32379388 548409 T TG . . ALLELEID=538742;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379388_32379389insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288382 13 32379389 52688 C CG . . ALLELEID=67356;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379389_32379390insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508013 13 32379391 186004 G A . . ALLELEID=184048;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379391G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202623 13 32379391 267109 GA G . . ALLELEID=261502;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379392del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040794 13 32379392 41569 A T . . AF_ESP=0.01399;AF_EXAC=0.00378;AF_TGP=0.00899;ALLELEID=50008;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32379392A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:745285|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:19348;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4987047 13 32379398 379012 T C . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=373782;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32379398T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=535486498 13 32379399 96874 T A . . ALLELEID=102777;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32379399T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:115343;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=431825371 13 32379401 91736 G T . . ALLELEID=97213;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379401G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2405101;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122715 13 32379401 52689 GA G . . ALLELEID=67357;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379404del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508014 13 32379406 52690 TAGGA T . . ALLELEID=67358;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379410_32379413del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508015 13 32379410 52691 A CT . . ALLELEID=67359;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379410delinsCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9076&base_change%3Ddel_A_ins_CT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174912 13 32379411 267111 A AGG . . ALLELEID=261503;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379412_32379413dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:3887113;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040796 13 32379412 136571 G A . . ALLELEID=140274;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32379412G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2630871;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897754 13 32379413 41570 G A . . AF_ESP=0.00438;AF_EXAC=0.00785;AF_TGP=0.00998;ALLELEID=50009;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32379413G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460232|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:15710|Illumina_Laboratory_Services,Illumina:505042;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=11571769 13 32379415 184282 C A . . ALLELEID=184049;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379415C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201376 13 32379431 38190 C T . . ALLELEID=46746;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32379431C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174913 13 32379436 184773 G A . . ALLELEID=184050;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379436G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201681 13 32379437 186398 G T . . ALLELEID=184051;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379437G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202920 13 32379439 427550 A G . . AF_EXAC=0.00001;ALLELEID=416383;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32379439A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751396548 13 32379440 52694 C T . . ALLELEID=67362;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379440C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291064;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359140 13 32379448 267112 AT A . . ALLELEID=261504;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379449del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040797 13 32379450 52695 C CA . . ALLELEID=67363;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379452dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2130514;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508017 13 32379450 267113 C G . . ALLELEID=261505;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN235283;CLNDN=Breast-ovarian_cancer,_familial_2|none_provided;CLNHGVS=NC_000013.11:g.32379450C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040798 13 32379463 187319 A G . . ALLELEID=184052;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379463A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203637 13 32379464 38192 AC A . . ALLELEID=46748;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32379466del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9132&base_change%3Ddel_C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2409160|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2233281|Invitae:606043;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359730 13 32379464 221071 ACCGTGTGGAAG TCCC . . ALLELEID=222343;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379464_32379475delinsTCCC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=864622735 13 32379466 220336 C T . . AF_EXAC=0.00001;ALLELEID=222344;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32379466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41293519 13 32379467 52697 G A . . AF_ESP=0.00023;AF_EXAC=0.00041;AF_TGP=0.00060;ALLELEID=67365;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32379467G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:63156|Illumina_Laboratory_Services,Illumina:1316449;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=59004709 13 32379472 267114 G A . . ALLELEID=261506;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379472G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040799 13 32379472 52699 G GA . . ALLELEID=67367;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379474dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359731 13 32379472 52698 GA G . . ALLELEID=67366;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379474del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913595|Breast_Cancer_Information_Core__(BRCA2):9140&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359731 13 32379473 254628 A T . . ALLELEID=249062;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379473A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038187 13 32379475 52701 GT G . . ALLELEID=67369;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379477del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508019 13 32379477 267115 T A . . ALLELEID=261507;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379477T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359142 13 32379479 38193 C T . . AF_ESP=0.00008;ALLELEID=46749;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32379479C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724179|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2408079|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:137323;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=45469092 13 32379480 267116 G GT . . ALLELEID=261508;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379481dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040800 13 32379485 52703 GT G . . ALLELEID=67371;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379486del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508020 13 32379491 225755 TA T . . ALLELEID=227551;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379492del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320799 13 32379493 267117 T A . . ALLELEID=261509;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379493T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040801 13 32379495 52704 C A . . ALLELEID=67372;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379495C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359144 13 32379495 38195 C CA . . ALLELEID=46751;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379502dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9168&base_change%3Dins_A|Invitae:5613321;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359732 13 32379495 91737 C G . . ALLELEID=97214;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379495C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359144 13 32379495 418600 CA C . . ALLELEID=408998;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379502del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359732 13 32379500 267118 A T . . ALLELEID=261510;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379500A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040802 13 32379501 267119 AAG A . . ALLELEID=261512;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379503_32379504del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040803 13 32379502 267120 AG A . . ALLELEID=261513;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379503del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040804 13 32379503 38196 G GA . . ALLELEID=46752;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379508dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:6039274|Breast_Cancer_Information_Core__(BRCA2):9174&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359733 13 32379503 267121 G T . . ALLELEID=261511;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379503G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291094;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=139052578 13 32379503 52706 GA G . . ALLELEID=67374;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379508del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359733 13 32379508 267122 A AG . . ALLELEID=261514;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379509dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040805 13 32379510 52707 AT A . . ALLELEID=67375;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379512del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508022 13 32379513 267123 C A . . ALLELEID=261515;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379513C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359146 13 32379513 38197 C G . . ALLELEID=46753;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379513C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291100;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359146 13 32379514 233886 A G . . ALLELEID=235015;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379514A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660709 13 32379516 38198 G T . . ALLELEID=46754;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379516G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291106|Breast_Cancer_Information_Core__(BRCA2):9181+1&base_change%3DG_to_T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847871;GENEINFO=BRCA2:675;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=81002882 13 32379749 142095 GTT AA . . ALLELEID=151809;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379749_32379751delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=276174916 13 32379751 52713 T TA . . ALLELEID=67381;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379752dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508024 13 32379753 254629 T TA . . ALLELEID=249063;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379754dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038188 13 32379753 267124 TACTG T . . ALLELEID=261516;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379755_32379758del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040806 13 32379755 52714 CTGAG C . . ALLELEID=67382;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379757_32379760del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9189&base_change%3Ddel_GAGT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359734 13 32379760 232059 T C . . ALLELEID=235016;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379760T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659529 13 32379760 267125 TA T . . ALLELEID=261517;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379761del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040807 13 32379765 126195 G A . . ALLELEID=131733;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379765G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359148 13 32379766 52716 G A . . ALLELEID=67384;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379766G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359149 13 32379771 52718 CATCATCAGATTTAT C . . ALLELEID=67386;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379774_32379787del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508026 13 32379774 52717 C A . . ALLELEID=67385;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379774C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508025 13 32379774 182257 C G . . ALLELEID=180680;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379774C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508025 13 32379775 427454 A C . . AF_EXAC=0.00001;ALLELEID=416384;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32379775A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=781452016 13 32379775 52720 ATCAG A . . ALLELEID=67388;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379776_32379779del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9208&base_change%3Ddel_TCAG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359737 13 32379777 548368 C CAGAT . . ALLELEID=538743;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379778_32379781dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288449 13 32379781 267126 T TTAGA . . ALLELEID=261518;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379782_32379783insAGAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040808 13 32379783 219665 T A . . ALLELEID=222345;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379783T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=864622200 13 32379784 427462 A G . . AF_EXAC=0.00002;ALLELEID=416385;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379784A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746348738 13 32379784 52721 ATA TT . . ALLELEID=67389;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379784_32379786delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508027 13 32379785 267127 TATTCTCTGTTAACAGAAGGAAAGAGATACAGA T . . ALLELEID=261519;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379789_32379820del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040809 13 32379787 52722 T G . . ALLELEID=67390;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379787T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508028 13 32379791 185661 C CT . . ALLELEID=184053;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379792dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202353 13 32379793 52723 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=67391;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379793G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359804 13 32379795 52724 T A . . ALLELEID=67392;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379795T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359151 13 32379796 185746 A G . . ALLELEID=184054;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379796A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202422 13 32379803 52726 G T . . ALLELEID=67394;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379803G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508029 13 32379804 224447 GA G . . ALLELEID=226186;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379807del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886037804 13 32379806 234445 AAG A . . ALLELEID=231902;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379808GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:7431927;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876661023 13 32379808 184425 G A . . AF_EXAC=0.00002;ALLELEID=184055;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379808G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748815473 13 32379808 433834 G GAGAT . . ALLELEID=427429;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379810_32379813dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555288462 13 32379810 52727 GAT G . . ALLELEID=67395;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379812_32379813del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9244&base_change%3Ddel_TA|Breast_Cancer_Information_Core__(BRCA2):9243&base_change%3Ddel_AT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359739 13 32379811 548349 A ATATC . . ALLELEID=538744;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379813_32379814insTCTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288465 13 32379812 267128 T TA . . ALLELEID=261520;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379813dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040810 13 32379812 431351 TACAGA T . . ALLELEID=424780;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379814_32379818del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1135401929 13 32379814 52728 C A . . ALLELEID=67396;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379814C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Genologica_Medica:GNL0061;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359154 13 32379814 267129 C CATCT . . ALLELEID=261521;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379815_32379816insTCTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040811 13 32379814 52729 C CTCTA . . ALLELEID=67397;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379814_32379815insTCTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508030 13 32379816 267130 GAATTTATCATCTTGCAACTTCAA G . . ALLELEID=261522;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379820_32379842del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040812 13 32379818 267131 A AT . . ALLELEID=261523;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379821dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203575 13 32379818 187238 AT A . . ALLELEID=184056;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379821del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203575 13 32379820 38204 TTATCA T . . ALLELEID=46760;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32379822_32379826del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:379970|Breast_Cancer_Information_Core__(BRCA2):9254&base_change%3Ddel_ATCAT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359741 13 32379822 52731 AT A . . ALLELEID=67399;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32379823del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9255&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359742 13 32379823 220532 T G . . ALLELEID=222347;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379823T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=864622568 13 32379829 267132 T TG . . ALLELEID=261524;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379830dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040814 13 32379834 38205 C T . . AF_ESP=0.00046;AF_EXAC=0.00023;ALLELEID=46761;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32379834C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:201226|Illumina_Laboratory_Services,Illumina:793839;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897755 13 32379837 52733 C A . . ALLELEID=67401;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379837C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359156 13 32379837 141162 C G . . ALLELEID=150876;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379837C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359156 13 32379839 141104 A G . . ALLELEID=150818;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32379839A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781497 13 32379844 267134 TA T . . ALLELEID=261525;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379848del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040816 13 32379845 225756 AAAAGT A . . ALLELEID=227553;CLNDISDB=MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Ovarian_cancer|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379849_32379853del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=869320800 13 32379849 52734 GTA G . . ALLELEID=67402;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379850_32379851del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9282&base_change%3Ddel_TA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359743 13 32379850 52735 TA T . . ALLELEID=67403;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379853del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9285&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359744 13 32379855 267135 C CT . . ALLELEID=261526;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379856dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507418 13 32379855 38206 C CTT . . ALLELEID=46762;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379856_32379857insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507418 13 32379855 91516 CT C . . ALLELEID=96993;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379856del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122609 13 32379857 267136 G GAA . . ALLELEID=261527;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379859_32379860dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040817 13 32379858 52738 AAAGAGCTAACATACAG A . . ALLELEID=67406;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379859_32379874del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508032 13 32379859 183975 A G . . ALLELEID=184058;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32379859A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854127;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201198 13 32379861 126198 G GAA . . ALLELEID=131736;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379862_32379863insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9294&base_change%3Dins_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359745 13 32379863 52739 GCTAACATA G . . ALLELEID=67407;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379865_32379872del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9297&base_change%3Ddel_TAACATAC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359746 13 32379868 52741 CAT C . . ALLELEID=67409;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379870_32379871del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508034 13 32379872 38207 C T . . ALLELEID=46763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32379872C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:168386|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460259;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=5;RS=80359159 13 32379883 136572 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=140275;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32379883G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2421894|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462216;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368576266 13 32379884 267137 AC A . . ALLELEID=261528;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379885del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040818 13 32379885 38208 C CA . . ALLELEID=46764;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32379893dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:842624;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=397507419 13 32379885 38209 CA C . . ALLELEID=46765;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32379893del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1585708;GENEINFO=BRCA2:675;ORIGIN=1;RS=397507419 13 32379885 52745 CAAAA C . . ALLELEID=67413;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379890_32379893del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507419 13 32379886 233998 A C . . ALLELEID=235019;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379886A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660785 13 32379889 233628 AA G . . ALLELEID=235020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379889_32379890delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660532 13 32379892 548421 A AT . . ALLELEID=538746;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379892_32379893insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288503 13 32379893 126200 A AC . . ALLELEID=131738;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379894dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9326&base_change%3Dins_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288504 13 32379893 52748 ACT A . . ALLELEID=67416;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379895_32379896del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9327&base_change%3Ddel_TC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359748 13 32379894 52747 C CA . . ALLELEID=67415;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379894_32379895insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9326&base_change%3Dins_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=80359747 13 32379895 230561 T C . . ALLELEID=235022;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32379895T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658635 13 32379895 52750 T TC . . ALLELEID=67418;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32379896dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508036 13 32379896 52749 C T . . ALLELEID=67417;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379896C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291148;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359163 13 32379898 433835 G GT . . ALLELEID=427430;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379899dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288507 13 32379901 267138 T G . . ALLELEID=261529;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379901T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040819 13 32379902 267139 C T . . ALLELEID=261530;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379902C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=202155613 13 32379902 267140 C TACT . . ALLELEID=261531;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32379902delinsTACT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040820 13 32379904 186555 A G . . ALLELEID=184060;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32379904A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203037 13 32379905 52752 C T . . ALLELEID=67420;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32379905C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508037 13 32380005 52759 A G . . AF_EXAC=0.00003;ALLELEID=67427;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380005A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:600185.0014|Breast_Cancer_Information_Core__(BRCA2):9346-2&base_change%3DA_to_G|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291160;GENEINFO=BRCA2:675;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=81002862 13 32380015 427369 T C . . ALLELEID=416386;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380015T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692104 13 32380016 91517 G T . . AF_EXAC=0.00001;ALLELEID=96994;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380016G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122610 13 32380019 267141 AT A . . ALLELEID=261532;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380023del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040821 13 32380024 233350 A G . . ALLELEID=235024;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380024A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876660349 13 32380028 267142 C T . . ALLELEID=261533;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380028C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040822 13 32380036 267143 C A . . ALLELEID=261534;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380036C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040823 13 32380037 52762 C T . . ALLELEID=67430;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380037C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359170 13 32380039 427443 G A . . AF_EXAC=0.00002;ALLELEID=416387;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380039G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756522027 13 32380039 127241 GC G . . ALLELEID=132698;CLNDISDB=MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:ORPHA231662,SNOMED_CT:71003000|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Ateleiotic_dwarfism|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380041del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=VariO:0043;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587779349 13 32380042 427489 A G . . AF_EXAC=0.00001;ALLELEID=416388;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380042A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766887680 13 32380043 52763 C T . . AF_EXAC=0.00001;ALLELEID=67431;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32380043C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724211|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2753928|Genologica_Medica:GNL0063|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291166;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=45580035 13 32380043 52764 CG C . . ALLELEID=67432;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380046del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9385&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359750 13 32380051 427483 C G . . AF_EXAC=0.00002;ALLELEID=416389;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380051C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850485;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778426874 13 32380063 52768 CA C . . ALLELEID=67436;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380066del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9405&base_change%3Ddel_A;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359751 13 32380064 52767 A G . . ALLELEID=67435;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32380064A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359174 13 32380066 427529 A G . . AF_EXAC=0.00001;ALLELEID=416390;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380066A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201561974 13 32380069 427429 T C . . AF_EXAC=0.00001;ALLELEID=416391;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380069T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=777390929 13 32380071 52769 T A . . ALLELEID=67437;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380071T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359175 13 32380071 267144 T G . . ALLELEID=261535;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380071T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359175 13 32380071 441349 T TA . . ALLELEID=435090;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380072dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288544 13 32380081 142316 CTT C . . ALLELEID=152030;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380083_32380084del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782378 13 32380082 548348 T TA . . ALLELEID=538747;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380082_32380083insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288547 13 32380084 234217 T C . . ALLELEID=235026;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380084T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359179 13 32380085 9347 C T . . ALLELEID=24386;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380085C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291172|OMIM_Allelic_Variant:600185.0032|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1806890;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359180 13 32380090 427549 A G . . AF_EXAC=0.00002;ALLELEID=416392;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380090A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=774425707 13 32380096 52776 T A . . ALLELEID=67444;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380096T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359183 13 32380096 232494 T C . . ALLELEID=235028;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380096T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359183 13 32380099 427382 T C . . ALLELEID=416393;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380099T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692113 13 32380106 548386 G GATTT . . ALLELEID=538748;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380107_32380108insTTTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555288561 13 32380107 267146 A AATTT . . ALLELEID=261536;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380107_32380108insATTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040825 13 32380109 427491 C T . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416394;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380109C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=151275325 13 32380111 184636 A G . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=184066;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32380111A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2715238;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200635661 13 32380114 52781 AG A . . ALLELEID=67449;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32380116del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913659;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508040 13 32380117 230557 A T . . ALLELEID=235031;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380117A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658632 13 32380121 233724 GT G . . ALLELEID=235032;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380122del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660599 13 32380123 142391 C T . . AF_EXAC=0.00001;ALLELEID=152105;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32380123C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844716;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587782428 13 32380123 38221 CG C . . AF_EXAC=0.00001;ALLELEID=46777;CLNDISDB=Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596,SNOMED_CT:367506006|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Polydactyly|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32380124del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Genomic_Medicine_Lab,_University_of_California_San_Francisco:UCSF227|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:137651;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=17;RS=397507422 13 32380124 38220 G A . . AF_ESP=0.00062;AF_EXAC=0.00030;AF_TGP=0.00060;ALLELEID=46776;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32380124G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:85880|Illumina_Laboratory_Services,Illumina:865304;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55933907 13 32380126 52782 T C . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=67450;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32380126T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9465&base_change%3DT_to_C;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359805 13 32380134 254630 T TG . . ALLELEID=249064;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380135dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038189 13 32380135 38225 G GA . . ALLELEID=46781;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380142dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9481&base_change%3Dins_A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2451241|Invitae:542604;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359752 13 32380135 52785 GA G . . ALLELEID=67453;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32380142del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:809736;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359752 13 32380136 52783 A T . . ALLELEID=67451;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380136A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359190 13 32380141 91519 AACA TT . . ALLELEID=96996;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32380141_32380144delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9480&base_change%3Ddel_AACA_ins_TT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=276174918 13 32380142 267147 A AC . . ALLELEID=261537;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380143dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040826 13 32380145 52788 G T . . ALLELEID=67456;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32380145G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359192 13 32380284 209847 C T . . AF_TGP=0.01058;ALLELEID=206079;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380284C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74047016 13 32380424 209949 G A . . AF_TGP=0.52356;ALLELEID=206080;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32380424G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7328654 13 32380559 209848 G A . . AF_TGP=0.00919;ALLELEID=206081;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380559G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11147491 13 32380604 209950 T A . . AF_TGP=0.97664;ALLELEID=206082;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380604T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206145 13 32380686 264923 A C . . AF_TGP=0.01178;ALLELEID=259505;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380686A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571770 13 32380775 209849 C T . . AF_TGP=0.00439;ALLELEID=206083;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380775C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=75562304 13 32380776 209850 G A . . AF_TGP=0.00559;ALLELEID=206084;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380776G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=141669194 13 32380880 264937 A C . . AF_TGP=0.00659;ALLELEID=259506;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32380880A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183447021 13 32381260 209951 C T . . AF_TGP=0.51098;ALLELEID=206085;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32381260C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534342 13 32381563 209851 T A . . AF_TGP=0.00679;ALLELEID=206086;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32381563T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571773 13 32381652 209852 G T . . AF_TGP=0.00399;ALLELEID=206087;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32381652G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675|LOC112163653:112163653;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144001573 13 32381972 209853 G A . . AF_TGP=0.20887;ALLELEID=206088;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32381972G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10870659 13 32382007 209854 G C . . AF_TGP=0.00899;ALLELEID=206089;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32382007G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571775 13 32382033 209855 T G . . AF_TGP=0.00679;ALLELEID=206090;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32382033T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571776 13 32382058 264888 G A . . AF_TGP=0.00379;ALLELEID=259507;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32382058G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571777 13 32382146 209856 G A . . AF_TGP=0.19689;ALLELEID=206091;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32382146G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534344 13 32382482 264912 G A . . AF_TGP=0.00379;ALLELEID=259508;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32382482G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571779 13 32382598 209857 A AG . . AF_TGP=0.00899;ALLELEID=206092;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32382599dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571780 13 32382620 209858 G A . . AF_TGP=0.22804;ALLELEID=206093;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32382620G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206146 13 32383177 209859 G A . . AF_TGP=0.00759;ALLELEID=206094;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32383177G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150042254 13 32383682 209860 G A . . AF_TGP=0.22584;ALLELEID=206095;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32383682G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7337574 13 32383740 264890 T C . . AF_TGP=0.00379;ALLELEID=259509;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32383740T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571784 13 32383835 209861 G C . . AF_TGP=0.22544;ALLELEID=206096;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32383835G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7337784 13 32384015 209862 G A . . AF_TGP=0.00659;ALLELEID=206097;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32384015G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571786 13 32384329 209863 T G . . AF_TGP=0.22544;ALLELEID=206098;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32384329T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571787 13 32384512 209864 G A . . AF_TGP=0.22564;ALLELEID=206099;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32384512G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9567639 13 32384686 209865 G A . . ALLELEID=206100;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32384686G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=188463500 13 32384750 209866 G A . . AF_TGP=0.02196;ALLELEID=206101;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32384750G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10492396 13 32384860 209867 G A . . AF_TGP=0.02636;ALLELEID=206102;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32384860G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=75257853 13 32385062 209952 C T . . AF_TGP=0.51158;ALLELEID=206103;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385062C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2238162 13 32385099 209868 C T . . AF_TGP=0.01538;ALLELEID=206104;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385099C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571788 13 32385103 209869 C A . . AF_TGP=0.03794;ALLELEID=206105;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385103C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571789 13 32385327 264930 C T . . AF_TGP=0.00280;ALLELEID=259510;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385327C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=547552048 13 32385397 209870 A G . . AF_TGP=0.20927;ALLELEID=206106;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385397A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=542551 13 32385401 209871 G A . . AF_TGP=0.00599;ALLELEID=206107;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385401G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34925070 13 32385652 209872 T C . . AF_TGP=0.22863;ALLELEID=206108;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385652T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206147 13 32385702 209953 A C . . AF_TGP=0.51178;ALLELEID=206109;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385702A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2238163 13 32385743 264969 A G . . AF_TGP=0.00220;ALLELEID=259511;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385743A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=551798807 13 32385907 209873 T C . . AF_TGP=0.00899;ALLELEID=206110;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32385907T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571790 13 32386106 264945 C A . . AF_TGP=0.00359;ALLELEID=259512;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32386106C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182035795 13 32386226 209954 T G . . AF_TGP=0.52756;ALLELEID=206111;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32386226T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11147492 13 32386531 209874 C T . . AF_TGP=0.00679;ALLELEID=206112;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32386531C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74537929 13 32386560 209875 A G . . AF_TGP=0.01258;ALLELEID=206113;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32386560A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186228399 13 32386567 264936 AAAAACCATTTGTATGAAGCAGAAAAAAAATG A . . AF_TGP=0.22524;ALLELEID=259513;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32386568_32386598del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56213495 13 32386851 209876 A G . . AF_TGP=0.00359;ALLELEID=206114;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32386851A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149294612 13 32387015 264909 G A . . AF_TGP=0.00699;ALLELEID=259514;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32387015G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=570977721 13 32387052 264910 G GC . . AF_TGP=0.97664;ALLELEID=259515;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32387053dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=397751953 13 32387052 209877 GC G . . ALLELEID=206115;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32387053del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=797044979 13 32387360 209878 C T . . AF_TGP=0.01138;ALLELEID=206116;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32387360C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571791 13 32387447 209879 C T . . AF_TGP=0.00300;ALLELEID=206117;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32387447C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571792 13 32387788 264903 C T . . AF_TGP=0.00140;ALLELEID=259516;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32387788C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=571896349 13 32387908 209955 A C . . AF_TGP=0.50919;ALLELEID=206118;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32387908A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2100785 13 32387951 209956 C T . . AF_TGP=0.51078;ALLELEID=206119;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32387951C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4570704 13 32388063 209880 C T . . AF_TGP=0.00140;ALLELEID=206120;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388063C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=187910413 13 32388121 264867 C CT . . ALLELEID=259517;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388136dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34184533 13 32388181 209957 T C . . AF_TGP=0.51138;ALLELEID=206121;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388181T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942499 13 32388406 209881 A G . . AF_TGP=0.00839;ALLELEID=206122;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388406A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571796 13 32388418 264983 G A . . AF_TGP=0.00379;ALLELEID=259518;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388418G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571797 13 32388542 209882 T A . . AF_TGP=0.10304;ALLELEID=206123;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388542T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571799 13 32388548 209883 C T . . AF_TGP=0.00819;ALLELEID=206124;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388548C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571800 13 32388666 264891 C CT . . ALLELEID=259519;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388679dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=66813254 13 32388964 264918 T G . . AF_TGP=0.00220;ALLELEID=259520;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32388964T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=567979190 13 32389392 209884 C G . . AF_TGP=0.05112;ALLELEID=206125;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32389392C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571801 13 32389570 209958 C T . . AF_TGP=0.52396;ALLELEID=206126;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32389570C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4942505 13 32389575 264907 T C . . AF_TGP=0.00639;ALLELEID=259521;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32389575T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571802 13 32389701 209885 A G . . AF_TGP=0.01597;ALLELEID=206127;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32389701A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9526160 13 32389796 209886 T C . . AF_TGP=0.00559;ALLELEID=206128;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32389796T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571804 13 32389810 209887 A G . . AF_TGP=0.02316;ALLELEID=206129;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32389810A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571805 13 32390046 209888 G A . . AF_TGP=0.00080;ALLELEID=206130;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32390046G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=141070283 13 32390265 209889 G T . . AF_TGP=0.00379;ALLELEID=206131;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32390265G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571806 13 32390362 209890 C T . . AF_TGP=0.00958;ALLELEID=206132;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32390362C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147800399 13 32390367 209891 C T . . AF_TGP=0.16034;ALLELEID=206133;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32390367C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9534367 13 32390504 209892 T C . . AF_TGP=0.00899;ALLELEID=206134;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32390504T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116522678 13 32391173 209893 G A . . AF_TGP=0.22824;ALLELEID=206135;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32391173G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206340 13 32391514 209959 T C . . AF_TGP=0.97664;ALLELEID=206136;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32391514T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206341 13 32391627 209894 C T . . AF_TGP=0.07348;ALLELEID=206137;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32391627C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571809 13 32391658 209895 A T . . AF_TGP=0.01258;ALLELEID=206138;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32391658A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571810 13 32391943 209896 T C . . AF_TGP=0.00339;ALLELEID=206139;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32391943T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74047019 13 32392531 209897 G A . . AF_TGP=0.07348;ALLELEID=206140;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32392531G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571811 13 32392545 209898 G A . . AF_TGP=0.00140;ALLELEID=206141;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32392545G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=141258585 13 32392589 264928 CA C . . ALLELEID=259522;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32392607del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10577567 13 32393030 209899 TG T . . AF_TGP=0.01058;ALLELEID=206142;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32393031del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571812 13 32393109 209900 A C . . AF_TGP=0.07348;ALLELEID=206143;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32393109A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571813 13 32393166 209901 A G . . AF_TGP=0.00998;ALLELEID=206144;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32393166A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7318434 13 32393237 209902 TC T . . AF_TGP=0.15994;ALLELEID=206145;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32393238del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571814 13 32393329 209960 A G . . AF_TGP=0.51178;ALLELEID=206146;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32393329A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9526165 13 32393672 209903 C G . . AF_TGP=0.16014;ALLELEID=206147;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32393672C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206342 13 32393874 209904 T C . . AF_TGP=0.00679;ALLELEID=206148;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32393874T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=78065656 13 32394146 209905 G A . . AF_TGP=0.00240;ALLELEID=206149;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394146G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116833677 13 32394153 209906 C G . . AF_TGP=0.00998;ALLELEID=206150;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394153C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7324145 13 32394172 209907 A G . . AF_TGP=0.04493;ALLELEID=206151;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394172A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11147493 13 32394312 264881 T A . . AF_TGP=0.00379;ALLELEID=259523;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394312T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144839924 13 32394413 209908 G A . . AF_TGP=0.00459;ALLELEID=206152;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394413G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571815 13 32394448 264925 A T . . AF_TGP=0.00839;ALLELEID=259524;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394448A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571816 13 32394454 209961 G A . . AF_TGP=0.52776;ALLELEID=206153;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394454G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7327867 13 32394470 209962 A G . . AF_TGP=0.51158;ALLELEID=206154;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394470A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7330025 13 32394546 209909 T A . . AF_TGP=0.00619;ALLELEID=206155;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394546T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80220521 13 32394576 209910 T G . . AF_TGP=0.00260;ALLELEID=206156;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32394576T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:85907;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=191553604 13 32394606 126207 G A . . AF_TGP=0.05052;ALLELEID=131745;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32394606G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9485-83&base_change%3DG_to_A;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9595456 13 32394673 52790 T C . . AF_ESP=0.00592;AF_EXAC=0.00765;AF_TGP=0.00439;ALLELEID=67458;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32394673T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9485-16&base_change%3DT_to_C|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460283|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:19349;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571818 13 32394693 52795 T TG . . ALLELEID=67463;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32394694dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508042 13 32394693 187585 TG T . . ALLELEID=184067;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394694del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203843 13 32394698 52797 C CT . . ALLELEID=67465;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394701dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9497&base_change%3Dins_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359753 13 32394701 236929 TC T . . ALLELEID=241733;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394702del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=878853619 13 32394702 136573 C T . . AF_EXAC=0.00002;ALLELEID=140276;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32394702C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780873 13 32394705 38226 CT C . . ALLELEID=46782;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394706del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397507424 13 32394705 52801 CTA C . . ALLELEID=67469;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394707_32394708del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508043 13 32394705 52802 CTATT C . . ALLELEID=67470;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394707_32394710del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9503&base_change%3Ddel_ATTT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359754 13 32394707 230575 AT A . . ALLELEID=235035;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394710del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876658643 13 32394708 52803 T G . . ALLELEID=67471;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394708T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359197 13 32394708 267148 TTTGTCAGACGA T . . ALLELEID=261538;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394709_32394719del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040827 13 32394713 188440 C G . . ALLELEID=186456;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_2|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32394713C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=786204283 13 32394717 254631 C CG . . AF_EXAC=0.00001;ALLELEID=249065;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394718dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=778782209 13 32394717 184910 C T . . AF_EXAC=0.00010;ALLELEID=184068;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32394717C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359198 13 32394718 52806 G T . . ALLELEID=67474;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394718G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359199 13 32394722 254632 GTTACAAT G . . ALLELEID=249066;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394727_32394733del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038191 13 32394722 267150 GTTACAATTTACTGGCA G . . ALLELEID=261539;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394723_32394738del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040829 13 32394723 52807 T A . . ALLELEID=67475;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32394723T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508044 13 32394724 38227 T C . . AF_EXAC=0.00026;AF_TGP=0.00040;ALLELEID=46783;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32394724T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:63460;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=41293521 13 32394726 38228 C A . . ALLELEID=46784;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394726C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291202;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=5;RS=80359200 13 32394726 38229 C G . . AF_EXAC=0.00001;ALLELEID=46785;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Medulloblastoma|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Breast-ovarian_cancer,_familial_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32394726C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291208|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2490251|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:108680;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359200 13 32394733 236930 C T . . ALLELEID=241734;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394733C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359202 13 32394737 418091 C CAATAAAGTTTTGGATAGACCTT . . ALLELEID=409004;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394741_32394762dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555289518 13 32394740 267151 T TA . . ALLELEID=261540;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394743dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359756 13 32394740 52813 TAA T . . ALLELEID=67481;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394742_32394743del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9538&base_change%3Ddel_AA;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359756 13 32394742 548394 A ATTAT . . ALLELEID=538749;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394742_32394743insTTAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555289522 13 32394749 52814 G A . . ALLELEID=67482;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32394749G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291220;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359205 13 32394750 224448 G A . . ALLELEID=226189;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394750G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=771203198 13 32394753 230678 A C . . ALLELEID=235036;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32394753A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658703 13 32394754 548356 G GAATT . . ALLELEID=538750;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394755_32394756insATTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555289525 13 32394755 422546 AC A . . ALLELEID=409005;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394757del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064795851 13 32394763 52816 G T . . ALLELEID=67484;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32394763G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843919;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508047 13 32394763 267152 GAGGA CCT . . ALLELEID=261541;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394763_32394767delinsCCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;ORIGIN=1;RS=886040831 13 32394765 230258 G A . . ALLELEID=235038;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32394765G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658469 13 32394771 427511 T C . . AF_EXAC=0.00001;ALLELEID=416395;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394771T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=775952688 13 32394781 548422 C CAT . . ALLELEID=538751;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394782AT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203318 13 32394781 267153 CA C . . ALLELEID=261542;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394782del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040832 13 32394781 186912 CAT C . . ALLELEID=184071;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32394782AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2433306|Invitae:1238397;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203318 13 32394782 267154 A AT . . ALLELEID=261543;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394783dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4208231;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040833 13 32394783 186524 T C . . AF_EXAC=0.00001;ALLELEID=184070;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394783T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=764595220 13 32394784 267155 A AAT . . ALLELEID=261544;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394784_32394785insAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040834 13 32394784 267156 ATG A . . ALLELEID=261545;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394786_32394787del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040835 13 32394786 267157 GTTAA G . . ALLELEID=261546;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394789_32394792del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5981155;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040836 13 32394788 232966 T A . . ALLELEID=235041;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394788T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359207 13 32394788 52819 T G . . ALLELEID=67487;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394788T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359207 13 32394788 52820 TA G . . ALLELEID=67488;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32394788_32394789delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508048 13 32394790 52821 AT A . . ALLELEID=67489;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394792del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9588&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359757 13 32394795 427495 T C . . AF_EXAC=0.00007;ALLELEID=416396;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32394795T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761305496 13 32394797 254633 CAA C . . ALLELEID=249067;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394798_32394799del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886038192 13 32394801 220108 C T . . ALLELEID=222350;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32394801C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587781901 13 32394803 38233 A T . . ALLELEID=46789;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32394803A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291232|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_735|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2448463;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28897759 13 32394806 91523 TC T . . ALLELEID=97000;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394808del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122612 13 32394807 52824 C G . . ALLELEID=67492;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32394807C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=276174924 13 32394808 52825 C T . . ALLELEID=67493;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32394808C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359210 13 32394810 187130 G A . . ALLELEID=184072;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32394810G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203495 13 32394811 267158 TGGCGACCA T . . ALLELEID=261547;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394813_32394820del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040837 13 32394812 38235 G A . . ALLELEID=46791;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32394812G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359211 13 32394813 234828 G A . . ALLELEID=231905;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32394813G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2664083;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=876661242 13 32394814 548426 C CG . . ALLELEID=538752;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394815dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555289573 13 32394814 52826 C T . . AF_EXAC=0.00002;ALLELEID=67494;CLNDISDB=Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Medulloblastoma|Breast_neoplasm|Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Wilms_tumor_1|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Glioma_susceptibility_3|Pancreatic_cancer_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32394814C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724283|HGMD:CM014328|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2603357|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291238|Genologica_Medica:GNL0065;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359212 13 32394816 126210 A AG . . ALLELEID=131748;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394816_32394817insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9612&base_change%3Dins_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359758 13 32394818 548360 C CCTGATTTGGACCACT . . ALLELEID=538753;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394818_32394819insCTGATTTGGACCACT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense,SO:0001821|inframe_insertion;ORIGIN=1;RS=1555289575 13 32394822 135820 A G . . AF_EXAC=0.00001;ALLELEID=139532;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394822A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780665 13 32394823 52828 TC T . . ALLELEID=67496;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394825del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508049 13 32394828 184747 A G . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=184073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32394828A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842757;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201172050 13 32394831 38239 AG A . . ALLELEID=46795;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394833del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9629&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359759 13 32394833 52831 GC G . . ALLELEID=67499;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32394835del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:277933|Breast_Cancer_Information_Core__(BRCA2):9631&base_change%3Ddel_C;GENEINFO=BRCA2:675;ORIGIN=1;RS=80359760 13 32394837 231532 TCTTA T . . ALLELEID=235044;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32394841_32394844del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659211 13 32394838 52832 CT C . . ALLELEID=67500;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394840del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9636&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359761 13 32394842 231901 C CT . . ALLELEID=235045;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394845dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876659435 13 32394843 183987 T G . . AF_EXAC=0.00052;ALLELEID=184074;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32394843T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2379446;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1799968 13 32394845 267159 T G . . ALLELEID=261548;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394845T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040838 13 32394846 52833 A G . . ALLELEID=67501;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32394846A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9642&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359807 13 32394846 267160 ATTTGCTGGAGATT A . . ALLELEID=261549;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394850_32394862del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040839 13 32394854 267161 GA G . . ALLELEID=261550;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394855del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040840 13 32394857 52836 AT A . . ALLELEID=67504;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394862del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4150585;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359762 13 32394857 254634 ATT A . . ALLELEID=249068;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394861_32394862del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9654&base_change%3Ddel_TT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359762 13 32394858 185125 T C . . ALLELEID=184076;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394858T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201946 13 32394862 52837 TC T . . ALLELEID=67505;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394863del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508051 13 32394863 38240 CTG C . . ALLELEID=46796;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN239275|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|BRCA2-Related_Disorders|not_provided;CLNHGVS=NC_000013.11:g.32394865GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:857971|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291274|Illumina_Laboratory_Services,Illumina:1324162|Breast_Cancer_Information_Core__(BRCA2):9663&base_change%3Ddel_GT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359763 13 32394864 427498 T G . . AF_EXAC=0.00001;ALLELEID=416397;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394864T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=749636710 13 32394871 267162 T TC . . ALLELEID=261551;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394872dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040841 13 32394881 267163 CA C . . ALLELEID=261552;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394885del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040842 13 32394884 126213 A AAG . . ALLELEID=131751;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394885AG[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9684&base_change%3Dins_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359764 13 32394884 52840 AAG A . . ALLELEID=67508;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32394885AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9683&base_change%3Ddel_AG;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359764 13 32394887 52842 AG A . . ALLELEID=67510;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394890del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913688;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508052 13 32394895 52843 TTTCA GAATGATC . . ALLELEID=67511;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394895_32394899delinsGAATGATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508053 13 32394897 52845 TC T . . ALLELEID=67513;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394898del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9694&base_change%3Ddel_C;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359766 13 32394898 52844 C T . . ALLELEID=67512;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394898C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=276174925 13 32394900 415648 A G . . AF_EXAC=0.00001;ALLELEID=400150;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32394900A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842697;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=753503094 13 32394901 548365 GA G . . ALLELEID=538754;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394902del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555289604 13 32394905 52846 CA C . . ALLELEID=67514;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394906del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508054 13 32394913 52848 A T . . ALLELEID=67516;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32394913A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291286;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359222 13 32394928 52850 G GT . . ALLELEID=67518;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_2|Familial_cancer_of_breast;CLNHGVS=NC_000013.11:g.32394930dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508055 13 32394928 52849 GT G . . ALLELEID=67517;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32394930del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1121087;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508055 13 32394936 38242 A T . . AF_ESP=0.00023;AF_EXAC=0.00015;ALLELEID=46798;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32394936A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:468751|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2438014|Breast_Cancer_Information_Core__(BRCA2):9729+3&base_change%3DA_to_T|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2381181;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=61757642 13 32394942 38243 A C . . AF_EXAC=0.00003;ALLELEID=46799;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32394942A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:916443|Breast_Cancer_Information_Core__(BRCA2):9729+9&base_change%3DA_to_C;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=81002867 13 32395111 209911 A G . . AF_TGP=0.16014;ALLELEID=206157;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32395111A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206343 13 32395894 209912 T C . . AF_TGP=0.20487;ALLELEID=206158;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32395894T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1012130 13 32395918 209913 T G . . AF_TGP=0.00559;ALLELEID=206159;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32395918T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150075007 13 32395964 209914 T C . . AF_EXAC=0.00000;ALLELEID=206160;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32395964T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=112007429 13 32396248 209915 A G . . AF_TGP=0.01438;ALLELEID=206161;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396248A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571821 13 32396296 209916 G A . . AF_TGP=0.00899;ALLELEID=206162;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396296G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7336403 13 32396449 209917 A G . . AF_TGP=0.21006;ALLELEID=206163;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396449A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=517118 13 32396462 209918 A G . . AF_TGP=0.07348;ALLELEID=206164;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396462A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11147494 13 32396599 209963 G C . . AF_TGP=0.51158;ALLELEID=206165;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32396599G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1012129 13 32396886 52856 T G . . AF_ESP=0.00015;AF_EXAC=0.00012;ALLELEID=67524;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32396886T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9730-12&base_change%3DT_to_G|Illumina_Laboratory_Services,Illumina:140288;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=81002803 13 32396901 52860 AT A . . ALLELEID=67528;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32396903del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9735&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359767 13 32396903 220169 T C . . ALLELEID=222352;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32396903T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=864622407 13 32396905 52861 A G . . AF_EXAC=0.00001;ALLELEID=67529;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32396905A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:114949;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80359224 13 32396907 52862 ATACT A . . ALLELEID=67530;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32396909_32396912del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9741&base_change%3Ddel_ACTT;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359769 13 32396911 548388 T TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC . . ALLELEID=538755;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396913_32396914insCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555289771 13 32396912 427523 T C . . AF_EXAC=0.00001;ALLELEID=416398;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396912T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=751515572 13 32396919 38246 G T . . ALLELEID=46802;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396919G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291298;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397507430 13 32396932 52864 A AG . . ALLELEID=67532;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396933dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4913696;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508061 13 32396932 267165 AGCTTATGC A . . ALLELEID=261553;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396933_32396940del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040844 13 32396933 427431 G A . . AF_EXAC=0.00002;ALLELEID=416399;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396933G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=756185318 13 32396936 427422 T G . . ALLELEID=416400;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32396936T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692141 13 32396936 52866 TATGCATATACTGCA T . . ALLELEID=67534;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396937_32396950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508062 13 32396944 267166 T TACTGCATGCAAATG . . ALLELEID=261554;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396946_32396959dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040845 13 32396954 230817 A G . . ALLELEID=235050;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32396954A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658792 13 32396960 231325 T C . . AF_EXAC=0.00001;ALLELEID=235052;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32396960T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=398122616 13 32396963 185216 C G . . ALLELEID=184080;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32396963C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202006 13 32396968 52871 G A . . ALLELEID=67539;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32396968G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291310;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=397508063 13 32396969 91529 G A . . ALLELEID=97006;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32396969G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122617 13 32396972 184365 C T . . ALLELEID=184081;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32396972C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201423 13 32396973 38249 ACC A . . ALLELEID=46805;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32396976_32396977del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913701|Breast_Cancer_Information_Core__(BRCA2):9808&base_change%3Ddel_CC;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359771 13 32396981 234902 TA T . . ALLELEID=231912;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32396984del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876661285 13 32396988 38252 T C . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=46808;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32396988T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-12|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847713|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:172348|Illumina_Laboratory_Services,Illumina:1382093;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=17;RS=80359229 13 32396990 427514 T C . . AF_EXAC=0.00001;ALLELEID=416401;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32396990T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769582388 13 32396995 38253 C G . . ALLELEID=46809;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32396995C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291316;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359230 13 32396999 184527 G A . . ALLELEID=184082;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32396999G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201520 13 32397002 185045 G A . . ALLELEID=184083;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32397002G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:743959|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837977;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755890067 13 32397002 184541 G C . . AF_EXAC=0.00005;ALLELEID=184084;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32397002G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2499457;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755890067 13 32397028 421372 C CA . . ALLELEID=409009;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32397029dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5989227;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555289805 13 32397035 230242 C T . . ALLELEID=235055;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000013.11:g.32397035C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658460 13 32397041 427439 T A . . AF_EXAC=0.00002;ALLELEID=416402;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32397041T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755111487 13 32397042 52878 C T . . ALLELEID=67546;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32397042C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359809 13 32397148 52879 AT A . . ALLELEID=67547;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32397150del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9876+106&base_change%3Ddel_T;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571824 13 32397288 209964 T C . . AF_TGP=0.97684;ALLELEID=206167;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32397288T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=206344 13 32397453 209920 A G . . AF_TGP=0.00339;ALLELEID=206168;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32397453A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=61066503 13 32397569 209921 A AT . . ALLELEID=206169;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32397578dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=398022220 13 32397569 264965 AT A . . ALLELEID=259525;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32397578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=398022220 13 32397588 264886 G A . . AF_TGP=0.00379;ALLELEID=259526;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32397588G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571826 13 32397919 209922 T G . . AF_TGP=0.00879;ALLELEID=206170;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32397919T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571827 13 32397940 264920 TCTTC T . . ALLELEID=259527;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32397944CCTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=573737764 13 32398004 264976 A G . . AF_TGP=0.00300;ALLELEID=259528;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398004A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55848377 13 32398142 52884 C T . . AF_EXAC=0.00013;ALLELEID=67552;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398142C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9877-20&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56177715 13 32398143 52883 G A . . AF_EXAC=0.00135;AF_TGP=0.00379;ALLELEID=67551;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398143G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9877-19&base_change%3DG_to_A;GENEINFO=BRCA2:675;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11571830 13 32398178 52888 GT G . . AF_EXAC=0.00001;ALLELEID=67556;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32398179del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9894&base_change%3Ddel_T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2575275;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359772 13 32398184 126217 T TA . . ALLELEID=131755;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398185dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9900&base_change%3Dins_A|Invitae:956756|OMIM_Allelic_Variant:600185.0019;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359773 13 32398186 254635 T TA . . ALLELEID=249069;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398187dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886038194 13 32398187 52889 AT A . . ALLELEID=67557;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32398189del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):9904&base_change%3Ddel_T|Invitae:7888291;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359774 13 32398192 91530 CA C . . ALLELEID=97007;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_carcinoma|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398195del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122618 13 32398199 254636 CT C . . ALLELEID=249070;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32398202del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5107386;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=755175776 13 32398209 38260 TTGTA T . . ALLELEID=46816;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:CN235283|MedGen:CN258378,Orphanet:ORPHA485382|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Inborn_genetic_diseases|not_specified|none_provided|Genetic_non-acquired_premature_ovarian_failure|not_provided;CLNHGVS=NC_000013.11:g.32398212_32398215del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:913911|Breast_Cancer_Information_Core__(BRCA2):9927&base_change%3Ddel_TATG|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2551396|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_228;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359775 13 32398212 427449 T C . . AF_EXAC=0.00002;ALLELEID=416403;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398212T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746413844 13 32398217 548323 C CG . . ALLELEID=538756;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398217_32398218insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555289922 13 32398224 427366 G A . . ALLELEID=416404;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398224G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692101 13 32398229 548362 C CAT . . ALLELEID=538757;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398229_32398230insAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555289928 13 32398233 52895 T C . . AF_ESP=0.00077;AF_EXAC=0.00007;ALLELEID=67563;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398233T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2209645|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2535791;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359810 13 32398239 182325 AC A . . ALLELEID=180693;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398241del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4913708;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881618 13 32398243 41572 G A . . AF_ESP=0.00830;AF_TGP=0.00679;ALLELEID=50011;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32398243G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28911|Illumina_Laboratory_Services,Illumina:797566|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460295;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=11571831 13 32398248 427513 A G . . AF_EXAC=0.00002;ALLELEID=416405;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398248A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773112850 13 32398251 184214 C A . . ALLELEID=184087;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000013.11:g.32398251C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359811 13 32398251 415707 C G . . ALLELEID=399409;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398251C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359811 13 32398251 52896 C T . . ALLELEID=67564;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided;CLNHGVS=NC_000013.11:g.32398251C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:74198;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359811 13 32398252 267170 C T . . ALLELEID=261555;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398252C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040849 13 32398259 267171 C CT . . ALLELEID=261556;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398261dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040850 13 32398263 427545 A C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=416406;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398263A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=377730276 13 32398265 224449 AG A . . ALLELEID=226190;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398266del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886037805 13 32398279 141469 GAGAA G . . ALLELEID=151183;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398283_32398286del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587781772 13 32398296 230601 C T . . ALLELEID=235059;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398296C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876658661 13 32398300 267172 AAG A . . ALLELEID=261557;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32398302_32398303del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5107484;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040851 13 32398320 91534 AG A . . ALLELEID=97011;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398321del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122622 13 32398323 427405 C A . . ALLELEID=416407;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398323C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692128 13 32398336 91535 AG A . . ALLELEID=97012;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398337del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122623 13 32398342 427453 C T . . AF_EXAC=0.00001;ALLELEID=416408;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398342C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757664122 13 32398349 267174 T A . . ALLELEID=261558;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398349T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=886040852 13 32398350 182303 A G . . ALLELEID=180695;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398350A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831675;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=730881598 13 32398356 52907 A C . . ALLELEID=67575;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398356A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):10071&base_change%3DA_to_C;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571832 13 32398356 52908 A G . . AF_EXAC=0.00016;AF_TGP=0.00140;ALLELEID=67576;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398356A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):10071&base_change%3DA_to_G;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11571832 13 32398358 267175 C CT . . ALLELEID=261559;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398359dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040853 13 32398377 184626 A G . . AF_EXAC=0.00002;ALLELEID=184089;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398377A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778401681 13 32398380 52909 TG T . . ALLELEID=67577;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398381del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA2):10096&base_change%3Ddel_G;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80359776 13 32398381 267176 GT G . . ALLELEID=261560;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398384del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:196653;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040854 13 32398388 52910 C T . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=67578;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398388C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2822960|Illumina_Laboratory_Services,Illumina:731049|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:188938;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56121817 13 32398389 182304 G A . . AF_ESP=0.00008;AF_EXAC=0.00010;AF_TGP=0.00020;ALLELEID=180696;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32398389G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2401962|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2377938;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369047997 13 32398396 52911 C T . . ALLELEID=67579;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398396C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291346;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359247 13 32398403 182326 C CATTT . . AF_EXAC=0.00001;ALLELEID=180697;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000013.11:g.32398404_32398407dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:889802;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881619 13 32398417 184027 A C . . ALLELEID=184090;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398417A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=762935810 13 32398422 427430 T C . . AF_EXAC=0.00001;ALLELEID=416409;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398422T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=774410550 13 32398431 215627 C A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=213095;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398431C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=562881210 13 32398437 267177 C A . . ALLELEID=261561;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32398437C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=4987049 13 32398437 52916 C G . . ALLELEID=67584;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32398437C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291352;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=4987049 13 32398437 52917 C T . . AF_ESP=0.00023;ALLELEID=67585;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398437C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:574956|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:137649|Breast_Cancer_Information_Core__(BRCA2):10152&base_change%3DC_to_T;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=4987049 13 32398438 52919 G T . . ALLELEID=67587;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32398438G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291358;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=80359251 13 32398443 427542 A C . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416410;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398443A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=192049298 13 32398452 96890 GA G . . ALLELEID=102793;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398458del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1077669;GENEINFO=BRCA2:675;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=431825381 13 32398458 183957 A G . . AF_EXAC=0.00001;ALLELEID=184092;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398458A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752308575 13 32398459 254637 G T . . AF_EXAC=0.00001;ALLELEID=249071;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398459G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=758051959 13 32398462 184620 C T . . AF_EXAC=0.00002;ALLELEID=184093;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398462C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=777488349 13 32398464 215628 G A . . ALLELEID=213096;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398464G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=863224319 13 32398485 184729 A G . . ALLELEID=184095;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398485A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201647 13 32398485 427396 A T . . ALLELEID=416411;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398485A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201647 13 32398489 38266 A T . . AF_ESP=0.00646;AF_EXAC=0.00702;AF_TGP=0.00439;ALLELEID=46822;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32398489A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM993644|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:460323|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:291370|Illumina_Laboratory_Services,Illumina:132381|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724317|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:19350|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1000;GENEINFO=BRCA2:675;MC=SO:0001587|nonsense;ORIGIN=1;RS=11571833 13 32398536 184877 C T . . ALLELEID=184097;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398536C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843900;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=113507014 13 32398542 232519 A G . . ALLELEID=235069;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398542A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659817 13 32398558 37719 A G . . AF_ESP=0.00015;AF_EXAC=0.00005;ALLELEID=46275;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398558A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2381171;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80358387 13 32398566 232438 T A . . ALLELEID=235073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398566T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754254199 13 32398566 185750 T C . . AF_EXAC=0.00001;ALLELEID=184098;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398566T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754254199 13 32398570 427548 T C . . AF_EXAC=0.00001;ALLELEID=416412;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398570T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=760122577 13 32398575 427438 T C . . AF_EXAC=0.00001;ALLELEID=416413;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398575T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=764584497 13 32398578 427503 T G . . AF_EXAC=0.00001;ALLELEID=416414;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32398578T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752218391 13 32398593 184484 A G . . ALLELEID=184100;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398593A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786201493 13 32398623 51043 G A . . AF_ESP=0.00215;AF_EXAC=0.00147;AF_TGP=0.00080;ALLELEID=65711;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32398623G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462186|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:159568|Illumina_Laboratory_Services,Illumina:149787;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=28897762 13 32398626 427477 T C . . AF_EXAC=0.00002;ALLELEID=416415;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398626T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854093;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=779075029 13 32398629 427381 T A . . ALLELEID=416416;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32398629T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202020 13 32398629 185235 T G . . ALLELEID=184102;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398629T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786202020 13 32398634 51047 C T . . AF_ESP=0.00123;AF_EXAC=0.00036;AF_TGP=0.00100;ALLELEID=65715;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32398634C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:81954;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56309455 13 32398665 427465 A T . . AF_EXAC=0.00002;ALLELEID=416417;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32398665A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747281144 13 32398677 225724 A G . . ALLELEID=227556;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398677A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=869320784 13 32398683 427418 G C . . ALLELEID=416418;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32398683G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692138 13 32398689 231521 A G . . ALLELEID=235077;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000013.11:g.32398689A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876659206 13 32398701 185864 T C . . AF_EXAC=0.00001;ALLELEID=184104;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000013.11:g.32398701T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776043746 13 32398704 427412 C T . . ALLELEID=416419;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398704C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692134 13 32398716 135790 G A . . AF_ESP=0.00031;AF_EXAC=0.00005;ALLELEID=139502;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398716G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:868049|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2630390|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:158014;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147854265 13 32398734 187059 T C . . AF_EXAC=0.00009;ALLELEID=184105;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000013.11:g.32398734T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=786203441 13 32398747 41540 A G . . AF_ESP=0.03729;AF_EXAC=0.02266;AF_TGP=0.04493;ALLELEID=49979;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000013.11:g.32398747A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:15407|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288076|Illumina_Laboratory_Services,Illumina:225360|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459435|HGMD:CM970189;GENEINFO=BRCA2:675;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1801426 13 32398764 51058 T C . . ALLELEID=65726;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000013.11:g.32398764T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA2):10479&base_change%3DT_to_C;GENEINFO=BRCA2:675;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80359779 13 32398875 125927 A C . . AF_TGP=0.16074;ALLELEID=131465;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374|MedGen:CN235283;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|not_specified|none_provided;CLNHGVS=NC_000013.11:g.32398875A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17738|Illumina_Laboratory_Services,Illumina:12144|Breast_Cancer_Information_Core__(BRCA2):10590&base_change%3DA_to_C;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=15869 13 32399065 209923 C G . . AF_TGP=0.00819;ALLELEID=206171;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32399065C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:575824;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=11571834 13 32399139 209924 A G . . AF_TGP=0.22205;ALLELEID=206172;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN169374;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|not_specified;CLNHGVS=NC_000013.11:g.32399139A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:12147;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=7334543 13 32399142 209925 GA G . . ALLELEID=206173;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32399152del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=200528973 13 32399160 209926 A G . . AF_TGP=0.00120;ALLELEID=206174;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32399160A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:793976;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=56003538 13 32399167 209927 C A . . AF_TGP=0.01657;ALLELEID=206175;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32399167C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:575994;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=11571835 13 32399302 209928 A G . . AF_TGP=0.19748;ALLELEID=206176;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MedGen:CN517202;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2|not_provided;CLNHGVS=NC_000013.11:g.32399302A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:12139;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=11571836 13 32399599 264887 AT A . . ALLELEID=259529;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_2|Fanconi_anemia;CLNHGVS=NC_000013.11:g.32399609del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Laboratory_Services,Illumina:561363;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=75353978 13 32399611 264893 A G . . AF_TGP=0.00439;ALLELEID=259530;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32399611A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:578418;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=186619625 13 32399612 264869 A G . . AF_TGP=0.00479;ALLELEID=259531;CLNDISDB=MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:ORPHA319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Fanconi_anemia,_complementation_group_D1|Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32399612A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:575764;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=192347116 13 32399625 264953 C A . . AF_TGP=0.00459;ALLELEID=259532;CLNDISDB=MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555;CLNDN=Breast-ovarian_cancer,_familial_2;CLNHGVS=NC_000013.11:g.32399625C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA2:675;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=144947432 13 48045719 225201 C T . . AF_ESP=0.00192;AF_EXAC=0.02785;AF_TGP=0.03954;ALLELEID=227129;CLNDISDB=.|.|MONDO:MONDO:0014826,MedGen:C4225160,OMIM:616903;CLNDN=azathioprine_response_-_Toxicity|mercaptopurine_response_-_Dosage|Thiopurines,_poor_metabolism_of,_2;CLNHGVS=NC_000013.11:g.48045719C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1184514050|PharmGKB:1184514050PA450379|PharmGKB_Clinical_Annotation:1184514050|OMIM_Allelic_Variant:615792.0001|UniProtKB_(protein):Q9NV35#VAR_076808|PharmGKB:1184514050PA448515;GENEINFO=NUDT15:55270;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=116855232 14 23413809 43088 C T . . ALLELEID=52258;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426;CLNDN=Primary_dilated_cardiomyopathy|Myopathy,_distal,_1|Dilated_cardiomyopathy_1S;CLNHGVS=NC_000014.9:g.23413809C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516254 14 23413813 43086 G A . . AF_EXAC=0.00065;AF_TGP=0.00080;ALLELEID=52256;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23413813G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200728597 14 23413823 43085 C G . . ALLELEID=52255;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009;CLNDN=Primary_dilated_cardiomyopathy;CLNHGVS=NC_000014.9:g.23413823C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516253 14 23413845 43082 C G . . AF_TGP=0.00040;ALLELEID=52252;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23413845C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:336614|Illumina_Laboratory_Services,Illumina:766608;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=187073962 14 23414015 14121 C T . . ALLELEID=29160;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Myopathy,_myosin_storage,_autosomal_recessive|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23414015C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042839|OMIM_Allelic_Variant:160760.0035;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913652 14 23414074 43076 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=52246;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23414074C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=45520836 14 23415020 181286 C T . . ALLELEID=179473;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23415020C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880822 14 23415024 181285 C T . . AF_EXAC=0.00001;ALLELEID=179474;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23415024C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880821 14 23415096 181282 G A . . AF_ESP=0.00015;ALLELEID=179477;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Myopathy,_myosin_storage,_autosomal_recessive|not_provided;CLNHGVS=NC_000014.9:g.23415096G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_073887|OMIM_Allelic_Variant:160760.0047;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145734640 14 23415132 217468 C T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=214122;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_provided;CLNHGVS=NC_000014.9:g.23415132C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369940645 14 23415153 43069 C T . . ALLELEID=52239;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0019056,MedGen:C0027868,Orphanet:ORPHA68381|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Neuromuscular_disease|not_provided;CLNHGVS=NC_000014.9:g.23415153C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1789095;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516248 14 23415159 181278 C T . . ALLELEID=179482;CLNDISDB=.|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=See_cases|Primary_dilated_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23415159C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=17;RS=730880816 14 23415212 43064 C T . . AF_EXAC=0.00001;ALLELEID=52234;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23415212C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516246 14 23415225 177697 C T . . AF_EXAC=0.00004;ALLELEID=175587;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0100595,MONDO:MONDO:0015271,MedGen:C0264162,Orphanet:ORPHA1320|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Idiopathic_camptocormia|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000014.9:g.23415225C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:117617|UniProtKB_(protein):P12883#VAR_019871;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200939753 14 23415228 177629 T C . . AF_EXAC=0.00003;ALLELEID=175442;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_myosin_storage,_autosomal_recessive|Congenital_myopathy_with_fiber_type_disproportion|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23415228T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_020821|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:336387;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369437262 14 23415249 161323 G T . . AF_ESP=0.00015;AF_EXAC=0.00001;ALLELEID=171160;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23415249G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139222507 14 23415252 43059 C T . . ALLELEID=52229;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23415252C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042837;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516241 14 23415651 36642 C T . . AF_EXAC=0.00001;ALLELEID=45304;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0001670,MedGen:C0205700|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Asymmetric_septal_hypertrophy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23415651C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:336303;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=17;RS=193922390 14 23415652 14118 G A . . ALLELEID=29157;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_provided;CLNHGVS=NC_000014.9:g.23415652G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042834|OMIM_Allelic_Variant:160760.0032|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:336293;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=121913650 14 23415680 43056 C T . . AF_ESP=0.16062;AF_EXAC=0.10702;AF_TGP=0.11761;ALLELEID=52226;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23415680C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:13100|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:12;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=3729830 14 23415812 43048 G A . . AF_ESP=0.00008;AF_EXAC=0.00047;ALLELEID=52218;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23415812G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=374289523 14 23416048 43044 C T . . AF_ESP=0.00046;AF_EXAC=0.00006;ALLELEID=52214;CLNDISDB=EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510,SNOMED_CT:71908006|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Ventricular_fibrillation|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23416048C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=141122361 14 23416169 43035 C T . . AF_ESP=0.00261;AF_EXAC=0.00086;AF_TGP=0.00220;ALLELEID=52205;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23416169C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1788844;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=146858930 14 23416241 43032 G A . . AF_ESP=0.01738;AF_EXAC=0.00459;AF_TGP=0.01817;ALLELEID=52202;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|none_provided|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23416241G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:574916|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:187272|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:336239;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=7140196 14 23416286 43031 C T . . AF_EXAC=0.00028;AF_TGP=0.00060;ALLELEID=52201;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000014.9:g.23416286C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=200601164 14 23416924 43029 G A . . ALLELEID=52199;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239297;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|MYH7-Related_Disorders;CLNHGVS=NC_000014.9:g.23416924G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397516225 14 23416946 43027 A G . . AF_ESP=0.00538;AF_EXAC=0.01271;AF_TGP=0.01118;ALLELEID=52197;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|none_provided|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23416946A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:336221|Illumina_Laboratory_Services,Illumina:61710|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:114189;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=2754155 14 23417173 180439 C T . . AF_EXAC=0.00002;ALLELEID=178673;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN230736|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23417173C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913647 14 23417200 43020 G C . . AF_ESP=0.00861;AF_EXAC=0.00746;AF_TGP=0.00519;ALLELEID=52190;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:ORPHA217632|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Restrictive_cardiomyopathy|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|none_provided|not_provided;CLNHGVS=NC_000014.9:g.23417200G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_020819|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:91681|Illumina_Laboratory_Services,Illumina:92192|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:162|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:335032|HGMD:CM050712;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001583|missense_variant;ORIGIN=1;RS=3729823 14 23417220 43019 G A . . AF_ESP=0.00261;AF_EXAC=0.00080;AF_TGP=0.00220;ALLELEID=52189;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23417220G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1788826;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=61737803 14 23417295 43012 C A . . AF_ESP=0.00008;ALLELEID=52182;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Wolff-Parkinson-White_pattern|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Congenital_myopathy_with_fiber_type_disproportion|Myosin_storage_myopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23417295C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1316455|UniProtKB_(protein):P12883#VAR_042828|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:335000;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=201307101 14 23417325 43011 G A . . ALLELEID=52181;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000014.9:g.23417325G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=370093487 14 23417573 164289 A G . . AF_EXAC=0.00003;ALLELEID=175451;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:ORPHA217632|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23417573A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=727503244 14 23417580 43005 C T . . ALLELEID=52175;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:ORPHA217607,SNOMED_CT:52029003|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23417580C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042826;GENEINFO=MYH7:4625|MHRT:104564225;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397516208 14 23417598 43003 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=52173;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23417598G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042825;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145213771 14 23417646 42999 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=52169;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23417646C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1789323;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371552806 14 23418249 42992 G A . . ALLELEID=52162;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239297|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|MYH7-Related_Disorders|not_provided;CLNHGVS=NC_000014.9:g.23418249G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_019867;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516201 14 23418313 164294 C T . . ALLELEID=175600;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0520806|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Sudden_unexplained_death|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23418313C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042824|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:334229;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727503246 14 23418374 42988 C T . . AF_ESP=0.00069;AF_EXAC=0.00158;AF_TGP=0.00060;ALLELEID=52158;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000014.9:g.23418374C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144465613 14 23418398 36641 G T . . AF_ESP=0.00008;ALLELEID=45303;CLNDISDB=EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510,SNOMED_CT:71908006|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Ventricular_fibrillation|Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_myosin_storage,_autosomal_recessive|Congenital_myopathy_with_fiber_type_disproportion|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23418398G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:171697|Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:MYH7_p.Asn1327Lys|UniProtKB_(protein):P12883#VAR_042823|Illumina_Laboratory_Services,Illumina:126628;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141764279 14 23419231 42980 G A . . AF_ESP=0.00008;AF_EXAC=0.00054;AF_TGP=0.00200;ALLELEID=52150;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23419231G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:261218|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:333785;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144420313 14 23419266 181236 C T . . AF_EXAC=0.00001;ALLELEID=179538;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23419266C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880785 14 23419285 42979 G C . . AF_ESP=0.00515;AF_EXAC=0.00137;AF_TGP=0.00439;ALLELEID=52149;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000014.9:g.23419285G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:987|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:333645;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45501694 14 23419476 42977 G A . . AF_ESP=0.00361;AF_EXAC=0.00229;AF_TGP=0.00120;ALLELEID=52147;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN235283|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|none_provided|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23419476G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:165150|Illumina_Laboratory_Services,Illumina:226522;GENEINFO=MYH7:4625;MC=SO:0001627|intron_variant;ORIGIN=1;RS=45467397 14 23419559 42974 G A . . AF_ESP=0.00031;AF_TGP=0.00120;ALLELEID=52144;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23419559G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:333501;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149103761 14 23419566 188628 T C . . AF_EXAC=0.00030;ALLELEID=186481;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23419566T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:286730|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:333451;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=574005462 14 23419910 42968 TCTC T . . ALLELEID=52138;CLNDISDB=Human_Phenotype_Ontology:HP:0006674,Human_Phenotype_Ontology:HP:0010316,MONDO:MONDO:0009144,MedGen:C0013481,OMIM:224700,Orphanet:ORPHA1880|Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:CN230736;CLNDN=Ebstein_anomaly_of_the_tricuspid_valve|Left_ventricular_noncompaction|Cardiovascular_phenotype;CLNHGVS=NC_000014.9:g.23419913_23419915del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYH7:4625;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=397516190 14 23419993 42965 C T . . AF_EXAC=0.00001;ALLELEID=52135;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:ORPHA217607,SNOMED_CT:52029003|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_dilated_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23419993C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:333231;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516187 14 23420189 42959 C T . . AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=52129;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23420189C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199552354 14 23420220 42957 C T . . AF_ESP=0.00278;AF_EXAC=0.00237;AF_TGP=0.00120;ALLELEID=52127;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|none_provided|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23420220C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:264566|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:129999|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:332984;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45554236 14 23420234 36638 C T . . ALLELEID=45300;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23420234C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922388 14 23420236 42956 T TG . . ALLELEID=52126;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Paroxysmal_familial_ventricular_fibrillation_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23420238dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:6901|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:238|Institute_for_Genomic_Medicine_(IGM)_Clinical_Laboratory,Nationwide_Children's_Hospital:NCH_ACC:2366|Illumina_Laboratory_Services,Illumina:495186|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_835;GENEINFO=MYH7:4625;ORIGIN=1;RS=45504498 14 23421008 42953 C A . . AF_ESP=0.00015;AF_EXAC=0.00016;ALLELEID=52123;CLNDISDB=.|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=See_cases|Primary_dilated_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23421008C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:109416|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_827;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=45478699 14 23422256 42950 C T . . AF_EXAC=0.00001;ALLELEID=52120;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23422256C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042821;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516179 14 23422267 155814 C T . . AF_EXAC=0.00007;ALLELEID=165566;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23422267C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587782962 14 23422269 42949 C T . . AF_ESP=0.00062;AF_EXAC=0.00017;AF_TGP=0.00040;ALLELEID=52119;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MONDO:MONDO:0000727,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23422269C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:575688;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=138294643 14 23422272 42946 C T . . AF_ESP=0.00554;AF_EXAC=0.00498;AF_TGP=0.00319;ALLELEID=52116;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23422272C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:11|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:332078|Illumina_Laboratory_Services,Illumina:143660;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45540831 14 23422291 42948 C A . . ALLELEID=52118;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23422291C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:910016;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516178 14 23422292 177753 G A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=175462;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_provided;CLNHGVS=NC_000014.9:g.23422292G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1788753;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=45611033 14 23423610 42945 G A . . AF_ESP=0.00008;AF_EXAC=0.00152;AF_TGP=0.00260;ALLELEID=52115;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23423610G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:777|Illumina_Laboratory_Services,Illumina:109635|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:331918;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145379951 14 23423626 181210 A G . . ALLELEID=179571;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|MedGen:CN230736|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23423626A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880763 14 23423679 42942 A G . . AF_ESP=0.45471;AF_EXAC=0.32119;AF_TGP=0.37640;ALLELEID=52112;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23423679A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:236|Illumina_Laboratory_Services,Illumina:13120;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=7157716 14 23423701 42941 A G . . AF_ESP=0.00169;AF_EXAC=0.00091;AF_TGP=0.00040;ALLELEID=52111;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:ORPHA54260,SNOMED_CT:427608000|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MeSH:D030342,MedGen:C0950123|MedGen:C4478895|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Inborn_genetic_diseases|Increased_left_ventricular_wall_thickness|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23423701A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:1465|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:331714|Illumina_Laboratory_Services,Illumina:282794;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145532615 14 23423922 42939 G A . . AF_ESP=0.00085;AF_EXAC=0.00023;AF_TGP=0.00160;ALLELEID=52109;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000014.9:g.23423922G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=142573531 14 23423984 14093 C T . . ALLELEID=29132;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNHGVS=NC_000014.9:g.23423984C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:160760.0007|UniProtKB_(protein):P12883#VAR_004598;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913629 14 23424025 181207 T A . . AF_EXAC=0.00002;ALLELEID=179576;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MedGen:CN239297|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|MYH7-Related_Disorders|not_provided;CLNHGVS=NC_000014.9:g.23424025T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880761 14 23424035 42934 TCTC T . . ALLELEID=52104;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23424036CTC[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:3483187;GENEINFO=MYH7:4625;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=397516172 14 23424060 42931 G A . . AF_ESP=0.00038;AF_EXAC=0.00069;AF_TGP=0.00060;ALLELEID=52101;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MONDO:MONDO:0000727,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23424060G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:831164|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:1393;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=36211716 14 23424107 14097 G C . . ALLELEID=29136;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23424107G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:160760.0010|UniProtKB_(protein):P12883#VAR_004593|HGMD:CM930507|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:330595;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913631 14 23424112 14125 T C . . ALLELEID=29164;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_myosin_storage,_autosomal_recessive|Congenital_myopathy_with_fiber_type_disproportion|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23424112T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:330515|UniProtKB_(protein):P12883#VAR_042814|OMIM_Allelic_Variant:160760.0039;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267606908 14 23424115 181203 C G . . ALLELEID=179583;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23424115C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880757 14 23424118 42926 C T . . ALLELEID=52096;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:ORPHA217607,SNOMED_CT:52029003|MedGen:CN230736|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23424118C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:958;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516165 14 23424119 164316 G A . . AF_EXAC=0.00001;ALLELEID=175612;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Dilated_cardiomyopathy_1S;CLNHGVS=NC_000014.9:g.23424119G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=17;RS=727503253 14 23424148 42922 T C . . ALLELEID=52092;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23424148T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2218874|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_14310_605|UniProtKB_(protein):P12883#VAR_042812|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:330454;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516161 14 23424770 177763 G A . . ALLELEID=175468;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23424770G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727503254 14 23424770 164319 G T . . ALLELEID=175614;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23424770G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727503254 14 23424793 36637 ATTC A . . ALLELEID=45299;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23424795TCT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=MYH7:4625;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=193922387 14 23424839 14120 C T . . AF_EXAC=0.00001;ALLELEID=29159;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0100749,MedGen:C0008031|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN280864|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Chest_pain|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23424839C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:160760.0034|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1789214|UniProtKB_(protein):P12883#VAR_004592;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=36211715 14 23424840 161326 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=171163;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23424840G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:330394|UniProtKB_(protein):P12883#VAR_020816;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138049878 14 23424842 177667 C T . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=175615;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23424842C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042810|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:475;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202141173 14 23424846 177847 C G . . ALLELEID=175470;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23424846C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:MYH7_p.Ala868Pro;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504356 14 23424855 181195 T C . . ALLELEID=179593;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23424855T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880749 14 23424895 42915 G T . . AF_ESP=0.00146;AF_EXAC=0.00024;AF_TGP=0.00040;ALLELEID=52085;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000014.9:g.23424895G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1788862;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144291282 14 23424906 42913 CCTT C . . ALLELEID=52083;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23424909_23424911del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:8_July_2019|Baylor-Hopkins_Center_for_Mendelian_Genomics,Johns_Hopkins_University:BH2420|Invitae:1170355;GENEINFO=MYH7:4625;MC=SO:0001822|inframe_deletion;ORIGIN=17;RS=397516155 14 23424909 177757 T C . . ALLELEID=175619;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNHGVS=NC_000014.9:g.23424909T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:330356;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504310 14 23424934 42911 C T . . AF_ESP=0.00085;AF_EXAC=0.00028;AF_TGP=0.00100;ALLELEID=52081;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000014.9:g.23424934C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1789304|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2430084;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45560638 14 23424935 42910 G A . . ALLELEID=52080;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:ORPHA217632|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Restrictive_cardiomyopathy|Dilated_cardiomyopathy_1S|not_provided;CLNHGVS=NC_000014.9:g.23424935G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1226|HGMD:CM086015;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397516153 14 23425345 42900 C T . . AF_ESP=0.00008;AF_EXAC=0.00022;AF_TGP=0.00020;ALLELEID=52070;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425345C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_019861|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:330227|Illumina_Laboratory_Services,Illumina:576750|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:126365;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376754645 14 23425347 164334 C A . . AF_TGP=0.00080;ALLELEID=175477;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425347C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=36211714 14 23425760 177665 C A . . ALLELEID=175480;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425760C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_004589|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:329945|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:1293;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913632 14 23425760 14098 C G . . ALLELEID=29137;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425760C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1789284|OMIM_Allelic_Variant:160760.0011|UniProtKB_(protein):P12883#VAR_004588;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913632 14 23425768 181368 C G . . ALLELEID=179620;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23425768C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880894 14 23425774 164342 A G . . ALLELEID=175481;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN230736|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Dilated_cardiomyopathy_1S|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425774A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:329799|UniProtKB_(protein):P12883#VAR_029439;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727503261 14 23425814 14095 G A . . AF_EXAC=0.00002;ALLELEID=29134;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425814G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:160760.0008|UniProtKB_(protein):P12883#VAR_004585|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1788770;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913630 14 23425814 42885 G C . . ALLELEID=52055;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23425814G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_020812;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913630 14 23425960 42884 C T . . AF_ESP=0.00261;AF_EXAC=0.00081;AF_TGP=0.00220;ALLELEID=52054;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425960C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_for_Genomic_Medicine_(IGM)_Clinical_Laboratory,Nationwide_Children's_Hospital:NCH_ACC:2263;GENEINFO=MYH7:4625;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145738465 14 23425970 14107 C T . . ALLELEID=29146;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN230736|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425970C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:160760.0021|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:329718|UniProtKB_(protein):P12883#VAR_017749|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:305;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913641 14 23425971 14104 G A . . ALLELEID=29143;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23425971G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:160760.0017|UniProtKB_(protein):P12883#VAR_004584|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:476|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:329679;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913637 14 23425980 14105 C T . . ALLELEID=29144;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_provided;CLNHGVS=NC_000014.9:g.23425980C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1788665|UniProtKB_(protein):P12883#VAR_004583|OMIM_Allelic_Variant:160760.0018;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913638 14 23425997 177734 G T . . ALLELEID=175629;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000014.9:g.23425997G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504272 14 23426057 42876 A G . . ALLELEID=52046;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy;CLNHGVS=NC_000014.9:g.23426057A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516128 14 23426833 42875 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=52045;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_myosin_storage,_autosomal_recessive|Congenital_myopathy_with_fiber_type_disproportion|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23426833C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_019855|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:147391|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:329576|Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:12_October_2017;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=17;RS=371898076 14 23427271 14113 G A . . ALLELEID=29152;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1S;CLNHGVS=NC_000014.9:g.23427271G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_017748|OMIM_Allelic_Variant:160760.0027;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913646 14 23427584 180441 C T . . AF_EXAC=0.00001;ALLELEID=178676;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23427584C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=113186231 14 23427706 42864 G A . . AF_ESP=0.01392;AF_EXAC=0.00375;AF_TGP=0.01298;ALLELEID=52034;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN239310;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|none_provided|Dilated_Cardiomyopathy,_Dominant;CLNHGVS=NC_000014.9:g.23427706G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:342425|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:329263|Illumina_Laboratory_Services,Illumina:598453;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=3729816 14 23427723 14090 C G . . ALLELEID=29129;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23427723C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:477|OMIM_Allelic_Variant:160760.0004|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:329066|UniProtKB_(protein):P12883#VAR_004578;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913626 14 23427773 42860 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=52030;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy;CLNHGVS=NC_000014.9:g.23427773C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377491278 14 23427868 42853 T C . . AF_ESP=0.03414;AF_EXAC=0.01053;AF_TGP=0.03295;ALLELEID=52023;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23427868T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:222887|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:328831;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2069543 14 23427879 14108 A G . . ALLELEID=29147;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1S|not_provided;CLNHGVS=NC_000014.9:g.23427879A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:160760.0022|UniProtKB_(protein):P12883#VAR_017747;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913642 14 23428599 177817 CAT C . . ALLELEID=175495;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy;CLNHGVS=NC_000014.9:g.23428600_23428601del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:328526;GENEINFO=MYH7:4625;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=727504336 14 23428967 42843 G A . . AF_ESP=0.00069;AF_EXAC=0.00026;AF_TGP=0.00060;ALLELEID=52013;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23428967G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45508293 14 23428992 42840 A G . . AF_EXAC=0.00001;ALLELEID=52010;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23428992A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516103 14 23429004 42838 C T . . ALLELEID=52008;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23429004C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042788|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:1527;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516101 14 23429005 14089 G A . . ALLELEID=29128;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23429005G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_004576|OMIM_Allelic_Variant:160760.0003|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:328466;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121913625 14 23429005 14129 G T . . ALLELEID=29168;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNHGVS=NC_000014.9:g.23429005G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_073880|OMIM_Allelic_Variant:160760.0043;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913625 14 23429040 14122 G A . . AF_EXAC=0.00013;ALLELEID=29161;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23429040G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042785|OMIM_Allelic_Variant:160760.0036;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913653 14 23429044 42835 C T . . ALLELEID=52005;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy;CLNHGVS=NC_000014.9:g.23429044C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042784;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516098 14 23429278 14087 C T . . ALLELEID=29126;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23429278C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_004574|OMIM_Allelic_Variant:160760.0001|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:162637;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=33;RS=121913624 14 23429279 14102 G A . . ALLELEID=29141;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_myosin_storage,_autosomal_recessive|Congenital_myopathy_with_fiber_type_disproportion|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23429279G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:328384|UniProtKB_(protein):P12883#VAR_004575|OMIM_Allelic_Variant:160760.0015;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=3218714 14 23429293 180434 C T . . ALLELEID=178679;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy;CLNHGVS=NC_000014.9:g.23429293C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880158 14 23429329 164378 T C . . ALLELEID=175645;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:ORPHA217632|Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Restrictive_cardiomyopathy|Left_ventricular_noncompaction|not_provided;CLNHGVS=NC_000014.9:g.23429329T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727503269 14 23429338 42826 T C . . ALLELEID=51996;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23429338T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516092 14 23429345 179272 C T . . ALLELEID=175500;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_myosin_storage,_autosomal_recessive|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified;CLNHGVS=NC_000014.9:g.23429345C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504753 14 23429785 42823 G A . . AF_ESP=0.18445;AF_TGP=0.15615;ALLELEID=51993;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23429785G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:10|Illumina_Laboratory_Services,Illumina:50769;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2231126 14 23429794 138391 C T . . AF_EXAC=0.00019;AF_TGP=0.00020;ALLELEID=142094;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNHGVS=NC_000014.9:g.23429794C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:794741;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=572672362 14 23429807 42822 C T . . ALLELEID=51992;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0030682,MONDO:MONDO:0018901,MedGen:C1960469,OMIM:PS604169,Orphanet:ORPHA54260,SNOMED_CT:427608000|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN230736|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23429807C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:MYH7_p.Arg369Gln;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516089 14 23429818 42821 C T . . AF_ESP=0.14885;AF_TGP=0.07967;ALLELEID=51991;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23429818C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:13144|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=735711 14 23429851 42819 G A . . AF_ESP=0.06259;AF_EXAC=0.07043;AF_TGP=0.06390;ALLELEID=51989;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23429851G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:13169|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:8;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=735712 14 23429867 14094 A G . . ALLELEID=29133;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23429867A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_004572|OMIM_Allelic_Variant:160760.0020;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121913640 14 23429900 42818 A G . . ALLELEID=51988;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNHGVS=NC_000014.9:g.23429900A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516087 14 23429901 164381 C T . . ALLELEID=175502;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23429901C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727503271 14 23429911 42817 G A . . AF_ESP=0.01607;AF_EXAC=0.00426;AF_TGP=0.01238;ALLELEID=51987;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|none_provided|not_provided;CLNHGVS=NC_000014.9:g.23429911G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:328061|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:963|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:169384|Illumina_Laboratory_Services,Illumina:481087;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34803781 14 23430584 43116 G A . . AF_ESP=0.02099;AF_EXAC=0.02085;AF_TGP=0.01458;ALLELEID=52286;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|none_provided|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23430584G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:7|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:81664|Illumina_Laboratory_Services,Illumina:13112;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2231124 14 23430595 181330 A T . . ALLELEID=179671;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23430595A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880859 14 23430629 177865 A G . . AF_ESP=0.00115;AF_EXAC=0.00028;AF_TGP=0.00060;ALLELEID=175503;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23430629A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=111626355 14 23431426 43106 A G . . ALLELEID=52276;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23431426A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_004571;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516269 14 23431585 43103 G A . . AF_ESP=0.28894;AF_EXAC=0.18365;AF_TGP=0.26378;ALLELEID=52273;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|none_provided|not_provided;CLNHGVS=NC_000014.9:g.23431585G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:4|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:50166|Illumina_Laboratory_Services,Illumina:13185;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2069542 14 23431589 14126 C T . . AF_EXAC=0.00001;ALLELEID=29165;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:C3150690|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Wolff-Parkinson-White_pattern|Familial_hypertrophic_cardiomyopathy_1|Left_ventricular_noncompaction_5|not_provided;CLNHGVS=NC_000014.9:g.23431589C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:160760.0040|UniProtKB_(protein):P12883#VAR_073876;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=5;RS=267606910 14 23431602 43100 C T . . ALLELEID=52270;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_myosin_storage,_autosomal_recessive|Congenital_myopathy_with_fiber_type_disproportion|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNHGVS=NC_000014.9:g.23431602C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:337366;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516264 14 23431610 43097 A G . . ALLELEID=52267;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23431610A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516262 14 23431790 181315 G A . . AF_EXAC=0.00002;ALLELEID=179689;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23431790G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516259 14 23431803 43092 T C . . AF_ESP=0.01076;AF_EXAC=0.01092;AF_TGP=0.00579;ALLELEID=52262;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|none_provided|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23431803T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:64272|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:336709|Illumina_Laboratory_Services,Illumina:13157|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:3;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2069541 14 23431850 181312 T G . . ALLELEID=179692;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23431850T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880843 14 23432498 181310 T G . . ALLELEID=179694;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23432498T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880842 14 23432661 43038 G A . . AF_ESP=0.00231;AF_EXAC=0.00083;AF_TGP=0.00080;ALLELEID=52208;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23432661G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:557983|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:311|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:336257|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:177038;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=45500700 14 23432683 43028 TG T . . ALLELEID=52198;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy;CLNHGVS=NC_000014.9:g.23432687del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYH7:4625;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397516224 14 23432713 43006 C T . . AF_EXAC=0.00001;ALLELEID=52176;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23432713C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:1498|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:334453|UniProtKB_(protein):P12883#VAR_004568;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516209 14 23433086 42960 A G . . AF_EXAC=0.00001;ALLELEID=52130;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000014.9:g.23433086A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12883#VAR_042762;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516183 14 23433088 181300 A G . . AF_EXAC=0.00001;ALLELEID=179706;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNHGVS=NC_000014.9:g.23433088A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880833 14 23433102 42952 G A . . AF_ESP=0.00008;AF_EXAC=0.00037;AF_TGP=0.00040;ALLELEID=52122;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN230736|MedGen:CN235283|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Cardiovascular_phenotype|none_provided|not_provided;CLNHGVS=NC_000014.9:g.23433102G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:878963|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:332803|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2470393;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=36211408 14 23433106 181299 C T . . ALLELEID=179708;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004,SNOMED_CT:399020009|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN517202;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Dilated_cardiomyopathy_1S|not_provided;CLNHGVS=NC_000014.9:g.23433106C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880832 14 23433132 42944 G A . . AF_ESP=0.00269;AF_EXAC=0.00061;AF_TGP=0.00180;ALLELEID=52114;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23433132G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1788700|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:956|Illumina_Laboratory_Services,Illumina:747100;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140245862 14 23433168 42918 G A . . AF_ESP=0.00069;AF_EXAC=0.00028;AF_TGP=0.00080;ALLELEID=52088;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23433168G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148560996 14 23433544 42869 G A . . AF_ESP=0.52753;AF_EXAC=0.48885;AF_TGP=0.52037;ALLELEID=52039;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008409,MedGen:C4759774,OMIM:181430,Orphanet:ORPHA437572|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0009708,MedGen:C1850709,OMIM:255160|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Myopathy,_distal,_1|MYH7-related_late-onset_scapuloperoneal_muscular_dystrophy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_myosin_storage,_autosomal_recessive|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNHGVS=NC_000014.9:g.23433544G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:13137;GENEINFO=MYH7:4625;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2069540 14 23433656 37375 G A . . AF_ESP=0.00008;AF_EXAC=0.00057;AF_TGP=0.00160;ALLELEID=45929;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MONDO:MONDO:0012018,MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiomyopathy,_left_ventricular_noncompaction|Myopathy,_distal,_1|Familial_hypertrophic_cardiomyopathy_1|Myosin_storage_myopathy|Dilated_cardiomyopathy_1S|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided;CLNHGVS=NC_000014.9:g.23433656G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:MYH7_p.Ala26Val|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:337514|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:910029|UniProtKB_(protein):P12883#VAR_004566|Illumina_Laboratory_Services,Illumina:575052;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=186964570 14 23433704 181293 C G . . AF_EXAC=0.00002;ALLELEID=179716;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN517202;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|not_provided;CLNHGVS=NC_000014.9:g.23433704C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYH7:4625;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880826 14 28767417 1162244 G GCACCACCAC . . ALLELEID=1151140;CLNDISDB=MONDO:MONDO:0100040,MedGen:CN297063|MedGen:CN517202;CLNDN=FOXG1_disorder|not_provided;CLNHGVS=NC_000014.9:g.28767420CCA[10];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:486e7703-3d5e-4129-96f5-17f593bfd736;GENEINFO=FOXG1:2290;MC=SO:0001821|inframe_insertion;ORIGIN=1 14 28767449 451937 A ACCCGCCGCCG . . ALLELEID=445223;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|not_provided;CLNHGVS=NC_000014.9:g.28767456_28767465dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:5949edb8-8ee8-43f4-9654-75b3f99f7c5d;GENEINFO=FOXG1:2290;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555321206 14 28767473 193308 CGCCGCCGCCGCCGCAGCAGCAGCA C . . ALLELEID=190472;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000014.9:g.28767488_28767511del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:98094|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:d7961e6f-d2ed-4061-a226-266375fc1e71;GENEINFO=FOXG1:2290;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=794726920 14 28767480 137388 G T . . AF_EXAC=0.00010;ALLELEID=141091;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000014.9:g.28767480G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:87862518-0606-414b-8d0c-81b9cd260088;GENEINFO=FOXG1:2290;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587780944 14 28767528 189612 GC G . . ALLELEID=187401;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|not_provided;CLNHGVS=NC_000014.9:g.28767535del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:3adb4e57-42ba-4d85-a85d-339b6d6df8fc|Invitae:2375051;GENEINFO=FOXG1:2290;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=786205001 14 28767732 95268 C CG . . ALLELEID=101167;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MedGen:C2711754|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|History_of_neurodevelopmental_disorder|not_provided;CLNHGVS=NC_000014.9:g.28767739dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4447094|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:432bce4a-6af0-46d5-9832-aec186137890|OMIM_Allelic_Variant:164874.0007|Undiagnosed_Diseases_Network,NIH:3faebf95-4007-4236-b758-a3991ec16fc0_1|HGMD:CI096054|Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:59335;GENEINFO=FOXG1:2290;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=398124204 14 28767768 137390 C T . . AF_ESP=0.00062;AF_EXAC=0.00107;ALLELEID=141093;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000014.9:g.28767768C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:2cb65a86-79ca-4496-81b7-c8af3856dda0;GENEINFO=FOXG1:2290;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375378714 14 28767782 205474 G C . . AF_ESP=0.00038;AF_EXAC=0.00022;AF_TGP=0.00040;ALLELEID=202819;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000014.9:g.28767782G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:19e24439-dc92-487e-996e-15f701bd41d8;GENEINFO=FOXG1:2290;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148157138 14 28767840 205485 C A . . ALLELEID=202823;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000014.9:g.28767840C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:021968c7-1749-4560-b21e-7deb642bfa60;GENEINFO=FOXG1:2290;MC=SO:0001583|missense_variant;ORIGIN=33;RS=796052462 14 28768078 158602 G A . . ALLELEID=169061;CLNDISDB=MONDO:MONDO:0013270,MedGen:C3150705,OMIM:613454|MONDO:MONDO:0100040,MedGen:CN297063|MedGen:CN517202;CLNDN=Rett_syndrome,_congenital_variant|FOXG1_disorder|not_provided;CLNHGVS=NC_000014.9:g.28768078G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:27df47a8-b4c0-4855-b601-8b7a887dd00a;GENEINFO=FOXG1:2290;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587783643 14 30877640 6611 C T . . ALLELEID=21650;CLNDISDB=Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MONDO:MONDO:0011058,MedGen:C1832425,OMIM:601369|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=Hearing_impairment|Deafness,_autosomal_dominant_9|Nonsyndromic_hearing_loss_and_deafness|not_provided|Rare_genetic_deafness;CLNHGVS=NC_000014.9:g.30877640C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:603196.0004|UniProtKB_(protein):O43405#VAR_008532;GENEINFO=COCH:1690|LOC100506071:100506071;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28938175 14 30878926 6613 G A . . ALLELEID=21652;CLNDISDB=MONDO:MONDO:0011058,MedGen:C1832425,OMIM:601369|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884;CLNDN=Deafness,_autosomal_dominant_9|Nonsyndromic_hearing_loss_and_deafness;CLNHGVS=NC_000014.9:g.30878926G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:603196.0006|UniProtKB_(protein):O43405#VAR_017175;GENEINFO=COCH:1690|LOC100506071:100506071;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908931 14 30879478 227258 A G . . AF_ESP=0.00046;AF_EXAC=0.00012;AF_TGP=0.00060;ALLELEID=230518;CLNDISDB=MONDO:MONDO:0011058,MedGen:C1832425,OMIM:601369|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_dominant_9|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000014.9:g.30879478A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:765177;GENEINFO=COCH:1690|LOC100506071:100506071;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147841606 14 30880739 281981 C T . . AF_ESP=0.00085;AF_EXAC=0.00085;AF_TGP=0.00100;ALLELEID=266218;CLNDISDB=MONDO:MONDO:0011058,MedGen:C1832425,OMIM:601369|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_dominant_9|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000014.9:g.30880739C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:494536;GENEINFO=COCH:1690|LOC100506071:100506071;MC=SO:0001627|intron_variant;ORIGIN=1;RS=202109231 14 30885501 226529 G A . . AF_ESP=0.00231;AF_EXAC=0.00051;AF_TGP=0.00200;ALLELEID=230519;CLNDISDB=MONDO:MONDO:0011058,MedGen:C1832425,OMIM:601369|MONDO:MONDO:0019497,MedGen:CN043648,Orphanet:ORPHA87884|MedGen:CN169374|MedGen:CN517202;CLNDN=Deafness,_autosomal_dominant_9|Nonsyndromic_hearing_loss_and_deafness|not_specified|not_provided;CLNHGVS=NC_000014.9:g.30885501G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:765179|UniProtKB_(protein):O43405#VAR_022260|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:175898;GENEINFO=COCH:1690|LOC100506071:100506071;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=28362775 15 25339185 160220 CTCTT C . . ALLELEID=169078;CLNDISDB=Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MeSH:D030342,MedGen:C0950123|MedGen:C2711754|MedGen:CN517202;CLNDN=Intellectual_disability|Angelman_syndrome|Inborn_genetic_diseases|History_of_neurodevelopmental_disorder|not_provided;CLNHGVS=NC_000015.10:g.25339187_25339190del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:02ad9f68-22f2-45f8-9ae7-9356fb754050|Génétique_des_Maladies_du_Développement,_Hospices_Civils_de_Lyon:16A5730|Invitae:4920667;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=33 15 25339193 156620 G A . . ALLELEID=166474;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN517202;CLNDN=Angelman_syndrome|not_provided;CLNHGVS=NC_000015.10:g.25339193G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:0b0cd308-4e86-4727-9fb9-c9120a58828c;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587783097 15 25340219 7967 C T . . ALLELEID=23006;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004;CLNDN=Angelman_syndrome;CLNHGVS=NC_000015.10:g.25340219C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:601623.0005|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:e2d45216-51ac-4982-a42b-f9feed9273d8;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=111033595 15 25354684 421239 C T . . ALLELEID=409187;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN517202;CLNDN=Angelman_syndrome|not_provided;CLNHGVS=NC_000015.10:g.25354684C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:c96a13e3-5540-405f-9036-7a16cf6dc64d;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064795001 15 25355883 96260 A G . . AF_ESP=0.00323;AF_EXAC=0.00412;AF_TGP=0.00200;ALLELEID=102154;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN169374|MedGen:CN517202;CLNDN=Angelman_syndrome|not_specified|not_provided;CLNHGVS=NC_000015.10:g.25355883A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:db3b7cba-cdf5-452f-981a-e93f530b51c7;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001627|intron_variant;ORIGIN=9;RS=79328837 15 25356842 155987 AAAG A . . ALLELEID=165791;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004;CLNDN=Angelman_syndrome;CLNHGVS=NC_000015.10:g.25356844AGA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:63c4c18c-b6ad-4d46-90d9-5ab500c96c58|Invitae:2128050;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001619|non-coding_transcript_variant,SO:0001822|inframe_deletion;ORIGIN=33;RS=587781234 15 25370598 418572 G A . . ALLELEID=409191;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN517202;CLNDN=Angelman_syndrome|not_provided;CLNHGVS=NC_000015.10:g.25370598G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:ee548715-7a99-499a-aff8-b87446f02a4c;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064793307 15 25370770 137885 T C . . AF_EXAC=0.00112;AF_TGP=0.00559;ALLELEID=141588;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:C2711754|MedGen:CN169374;CLNDN=Angelman_syndrome|History_of_neurodevelopmental_disorder|not_specified;CLNHGVS=NC_000015.10:g.25370770T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:51ae3d53-3eb4-4e33-8f42-c4e08e83eb1f;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=9;RS=150331504 15 25370967 546267 C A . . ALLELEID=536881;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN517202;CLNDN=Angelman_syndrome|not_provided;CLNHGVS=NC_000015.10:g.25370967C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:5a71dd7c-8402-4233-9b65-cc71afc0f62a;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555400239 15 25371238 437192 C T . . ALLELEID=429629;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN169374;CLNDN=Angelman_syndrome|not_specified;CLNHGVS=NC_000015.10:g.25371238C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:7be1b922-205f-47f4-9346-b5504cf92ce9;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=867585000 15 25371315 420601 C T . . ALLELEID=409195;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN517202;CLNDN=Angelman_syndrome|not_provided;CLNHGVS=NC_000015.10:g.25371315C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:1a47fed2-6375-4b1e-91c9-5e70e5c6dc27;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064794579 15 25371548 620293 G C . . ALLELEID=611790;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN517202;CLNDN=Angelman_syndrome|not_provided;CLNHGVS=NC_000015.10:g.25371548G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:9ae17512-5ec1-4d79-9d91-ec7eed1c1da3;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1566961418 15 25371797 155994 G T . . ALLELEID=165798;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004;CLNDN=Angelman_syndrome;CLNHGVS=NC_000015.10:g.25371797G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:ab249ad8-9000-4fe3-b765-33904af0119f;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=17;RS=587781241 15 25375769 195397 CCAAACATT C . . ALLELEID=192558;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN517202;CLNDN=Angelman_syndrome|not_provided;CLNHGVS=NC_000015.10:g.25375776_25375783del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:6c0d54b2-0ece-452a-bbe3-0b4b355005af;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001627|intron_variant;ORIGIN=1;RS=794727306 15 25405461 136199 A G . . ALLELEID=139903;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MedGen:CN517202;CLNDN=Angelman_syndrome|not_provided;CLNHGVS=NC_000015.10:g.25405461A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:ca3b17bd-94fc-4e26-a127-06213fba2385;GENEINFO=UBE3A:7337|SNHG14:104472715;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780577 15 66387416 138155 C T . . AF_ESP=0.00071;AF_EXAC=0.00018;AF_TGP=0.00040;ALLELEID=141858;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000015.10:g.66387416C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:3eacc550-bf0c-432b-b902-eee2cb07e8c4;GENEINFO=MAP2K1:5604;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140749690 15 66435104 13350 T C . . ALLELEID=28389;CLNDISDB=MONDO:MONDO:0014113,MedGen:C3809006,OMIM:615279|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_3|Cardio-facio-cutaneous_syndrome|not_provided;CLNHGVS=NC_000015.10:g.66435104T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b78d797f-9630-4e8f-a1e3-8bf3ece401f5|UniProtKB_(protein):Q02750#VAR_035093|OMIM_Allelic_Variant:176872.0001;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908594 15 66435115 40779 A C . . ALLELEID=49249;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Cardio-facio-cutaneous_syndrome|Rasopathy;CLNHGVS=NC_000015.10:g.66435115A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:5fa3b275-1dad-4c57-bed5-dd904a8b11bb;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516790 15 66435145 40781 G A . . ALLELEID=49251;CLNDISDB=.|Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human_Phenotype_Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131,SNOMED_CT:254637007|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:ORPHA106|MONDO:MONDO:0014113,MedGen:C3809006,OMIM:615279|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=MAP2K1-related_RASopathy|Melanoma|Non-small_cell_lung_carcinoma|Autism_spectrum_disorder|Cardiofaciocutaneous_syndrome_3|Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000015.10:g.66435145G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Liping_Wei_Laboratory,Peking_University:ASD0014|ClinGen_RASopathy_Variant_Curation_Expert_Panel:8197dee3-bc2e-49dc-88bc-d31b5fd7286f|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1077|Illumina_Laboratory_Services,Illumina:1728781;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=35;RS=727504317 15 66435221 44588 T G . . ALLELEID=53755;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|not_provided;CLNHGVS=NC_000015.10:g.66435221T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2986f8eb-3ee8-416d-a279-f72ff1c134a1;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=33;RS=397516791 15 66436769 44589 C T . . AF_ESP=0.00046;AF_EXAC=0.00062;AF_TGP=0.00040;ALLELEID=53756;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000015.10:g.66436769C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:f18e6c0b-7a6f-4a7e-82d7-5de48e915d3c;GENEINFO=MAP2K1:5604;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144166521 15 66436777 280446 G T . . ALLELEID=264875;CLNDISDB=MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0014113,MedGen:C3809006,OMIM:615279|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_1|Cardiofaciocutaneous_syndrome_3|Rasopathy|not_provided;CLNHGVS=NC_000015.10:g.66436777G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=33;RS=727504819 15 66436818 228273 A G . . ALLELEID=230599;CLNDISDB=MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0014113,MedGen:C3809006,OMIM:615279|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Noonan_syndrome_1|Cardiofaciocutaneous_syndrome_3|Noonan_syndrome|Rasopathy;CLNHGVS=NC_000015.10:g.66436818A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=33;RS=876657651 15 66436824 375981 C T . . ALLELEID=362860;CLNDISDB=Human_Phenotype_Ontology:HP:0002861,Human_Phenotype_Ontology:HP:0002887,Human_Phenotype_Ontology:HP:0006777,Human_Phenotype_Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0014113,MedGen:C3809006,OMIM:615279|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:C0153574|MedGen:CN517202;CLNDN=Melanoma|Transitional_cell_carcinoma_of_the_bladder|Malignant_melanoma_of_skin|Neoplasm_of_the_large_intestine|Cardiofaciocutaneous_syndrome_3|Noonan_syndrome|Rasopathy|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000015.10:g.66436824C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1057519732 15 66436842 40747 T C . . ALLELEID=49217;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MeSH:D030342,MedGen:C0950123|MedGen:CN235283;CLNDN=Cardio-facio-cutaneous_syndrome|Inborn_genetic_diseases|none_provided;CLNHGVS=NC_000015.10:g.66436842T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9f86afbc-b31d-472c-ac5d-ee0799f21c9c|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2371538;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397516793 15 66436843 13351 A G . . ALLELEID=28390;CLNDISDB=MONDO:MONDO:0007970,MedGen:C3149631,OMIM:155950,Orphanet:ORPHA2485,SNOMED_CT:44697002|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950|MONDO:MONDO:0014113,MedGen:C3809006,OMIM:615279|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Melorheostosis|Noonan_syndrome_1|Cardiofaciocutaneous_syndrome_3|Cardio-facio-cutaneous_syndrome|Rasopathy|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000015.10:g.66436843A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q02750#VAR_035094|ClinGen_RASopathy_Variant_Curation_Expert_Panel:1eaf4dad-ab0c-49ae-8548-22bad4210249|OMIM_Allelic_Variant:176872.0002;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=33;RS=121908595 15 66436900 389759 A T . . AF_EXAC=0.00016;AF_TGP=0.00020;ALLELEID=374265;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000015.10:g.66436900A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:942afb93-4139-4b07-851a-75b2358c8128;GENEINFO=MAP2K1:5604;MC=SO:0001627|intron_variant;ORIGIN=1;RS=550240942 15 66481794 167260 A G . . ALLELEID=177413;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000015.10:g.66481794A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=33;RS=727503996 15 66481834 44590 C T . . AF_ESP=0.00069;AF_EXAC=0.00032;AF_TGP=0.00040;ALLELEID=53757;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000015.10:g.66481834C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:4e4166b8-f343-4e54-a3e5-aab6290a5355;GENEINFO=MAP2K1:5604;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148968935 15 66484977 94082 G GTC . . ALLELEID=99984;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000015.10:g.66484978TC[4];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Illumina_Laboratory_Services,Illumina:742190|ClinGen_RASopathy_Variant_Curation_Expert_Panel:683b32d2-f588-4a79-be69-e8717aa258d0;GENEINFO=MAP2K1:5604;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113913469 15 66485007 40754 G A . . AF_ESP=0.01492;AF_EXAC=0.01132;AF_TGP=0.00539;ALLELEID=49224;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000015.10:g.66485007G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:73aeb3b9-cf0f-441d-8fde-7baab940b780|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:144835;GENEINFO=MAP2K1:5604;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17586159 15 66485100 44592 C G . . AF_ESP=0.00008;AF_EXAC=0.00189;AF_TGP=0.00240;ALLELEID=53759;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000015.10:g.66485100C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:240b9c1e-16ca-4644-9dfa-ec5011367f68;GENEINFO=MAP2K1:5604;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371652992 15 66485144 40756 C T . . AF_ESP=0.00038;AF_EXAC=0.00008;ALLELEID=49226;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000015.10:g.66485144C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:d798c554-02fa-4c7b-96d8-4fda7463f9de;GENEINFO=MAP2K1:5604;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144080051 15 66487223 448948 T C . . AF_EXAC=0.00008;ALLELEID=442537;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000015.10:g.66487223T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:977fc918-e24e-4858-8b4f-f63a40068950;GENEINFO=MAP2K1:5604;MC=SO:0001627|intron_variant;ORIGIN=1;RS=748953467 15 66487259 40758 A T . . AF_ESP=0.00469;AF_EXAC=0.00132;AF_TGP=0.00499;ALLELEID=49228;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000015.10:g.66487259A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:a895f2eb-4350-485d-b678-a8f94a4cc002;GENEINFO=MAP2K1:5604;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146869577 15 66489710 40760 C T . . AF_ESP=0.09177;AF_EXAC=0.08434;AF_TGP=0.08926;ALLELEID=49230;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000015.10:g.66489710C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:44264|ClinGen_RASopathy_Variant_Curation_Expert_Panel:eb76d7fe-96e9-4113-aa3b-de76d46d565d;GENEINFO=MAP2K1:5604;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41306345 15 66489770 44586 CTATT C . . ALLELEID=53753;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|not_specified|none_provided|not_provided;CLNHGVS=NC_000015.10:g.66489771TATT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Illumina_Laboratory_Services,Illumina:497004|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:266934|Invitae:27316|ClinGen_RASopathy_Variant_Curation_Expert_Panel:a8e91870-1b3e-43d5-b3b5-f0559a0e3599;GENEINFO=MAP2K1:5604|SNAPC5:10302;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397516788 15 66489772 180895 A G . . AF_ESP=0.00031;AF_EXAC=0.00019;ALLELEID=179789;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000015.10:g.66489772A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:daa41704-c6b0-4d20-8b22-57a3fc0ab2f1;GENEINFO=MAP2K1:5604|SNAPC5:10302;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=368800650 15 66490531 448949 T C . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=442538;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000015.10:g.66490531T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9581cc43-8005-4a02-8e31-2c7cb18c67df;GENEINFO=MAP2K1:5604|SNAPC5:10302;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=200293968 15 66490570 40762 C T . . AF_ESP=0.00092;AF_EXAC=0.00039;AF_TGP=0.00140;ALLELEID=49232;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000015.10:g.66490570C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:bb9af7db-7756-46f9-88be-f7ca17304539;GENEINFO=MAP2K1:5604|SNAPC5:10302;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=150841154 15 78590583 17497 G A . . AF_EXAC=0.26767;AF_TGP=0.14956;ALLELEID=32536;CLNDISDB=.|MedGen:C2677571|MedGen:C3150168,OMIM:612052;CLNDN=nicotine_response_-_Toxicity|Lung_cancer_susceptibility_2|Smoking_as_a_quantitative_trait_locus_3;CLNHGVS=NC_000015.10:g.78590583G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P30532#VAR_046212|PharmGKB:981204902PA450626|OMIM_Allelic_Variant:118505.0001;GENEINFO=CHRNA5:1138;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=16969968 15 89316331 885824 T C . . ALLELEID=874252;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519;CLNDN=Mitochondrial_disease|POLG-Related_Spectrum_Disorders;CLNHGVS=NC_000015.10:g.89316331T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1373430;GENEINFO=POLG:5428|FANCI:55215;MC=SO:0001624|3_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=2055257867 15 89316629 317304 C T . . ALLELEID=341436;CLNDISDB=MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519;CLNDN=Fanconi_anemia,_complementation_group_I|Fanconi_anemia|Mitochondrial_disease|POLG-Related_Spectrum_Disorders;CLNHGVS=NC_000015.10:g.89316629C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:656029|ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:18eb9540-47f4-41ce-9dd4-b53667b62627|Illumina_Laboratory_Services,Illumina:656027;GENEINFO=POLG:5428|FANCI:55215;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886051517 15 89316651 886829 C T . . ALLELEID=874253;CLNDISDB=MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519;CLNDN=Fanconi_anemia,_complementation_group_I|Mitochondrial_disease|POLG-Related_Spectrum_Disorders;CLNHGVS=NC_000015.10:g.89316651C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:293836;GENEINFO=POLG:5428|FANCI:55215;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=770839560 15 89317328 619496 T C . . AF_ESP=0.01469;AF_TGP=0.00998;ALLELEID=610811;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89317328T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:5884e839-4329-4390-9c9f-a4637e2d3211;GENEINFO=POLG:5428;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2307454 15 89317374 597808 A G . . ALLELEID=588869;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89317374A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:0dc43c7b-f575-49c1-b3fa-717f721349b5;GENEINFO=POLG:5428;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1335880349 15 89317388 21315 C CG . . ALLELEID=34167;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Mitochondrial_disease;CLNHGVS=NC_000015.10:g.89317389dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=POLG:5428;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=113994101 15 89317406 285869 C CAGTT . . ALLELEID=270106;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89317407_89317410dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=POLG:5428;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886043241 15 89317422 138766 G T . . AF_ESP=0.00869;AF_TGP=0.00220;ALLELEID=142469;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519|MedGen:CN169374|MedGen:CN517202;CLNDN=Seizures|Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|POLG-Related_Spectrum_Disorders|not_specified|not_provided;CLNHGVS=NC_000015.10:g.89317422G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:89932|ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:2752840e-17e1-40fd-a9c0-f283c4c427c8;GENEINFO=POLG:5428;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2307443 15 89317446 426681 C A . . ALLELEID=415454;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89317446C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:a57c4294-b4fc-47f9-a409-2182e7ab5ba1;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1085307741 15 89317447 619340 T C . . ALLELEID=610704;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease;CLNHGVS=NC_000015.10:g.89317447T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1567183988 15 89317458 129997 C G . . AF_ESP=0.00862;AF_TGP=0.00739;ALLELEID=135443;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519|MedGen:CN169374|MedGen:CN517202;CLNDN=Seizures|Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|POLG-Related_Spectrum_Disorders|not_specified|not_provided;CLNHGVS=NC_000015.10:g.89317458C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:767262;GENEINFO=POLG:5428;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=62640037 15 89317469 426100 C T . . ALLELEID=414709;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89317469C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1131691575 15 89317496 566733 G A . . ALLELEID=569643;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease;CLNHGVS=NC_000015.10:g.89317496G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001587|nonsense;ORIGIN=1;RS=1567184117 15 89317550 138764 A G . . ALLELEID=142467;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN169374;CLNDN=Mitochondrial_disease|not_specified;CLNHGVS=NC_000015.10:g.89317550A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587781119 15 89317577 619494 T G . . AF_ESP=0.04378;AF_TGP=0.04792;ALLELEID=610815;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89317577T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2307436 15 89317700 677628 T G . . AF_TGP=0.01478;ALLELEID=667150;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89317700T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3176231 15 89318572 378418 G A . . AF_EXAC=0.00007;ALLELEID=374455;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN169374;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_specified;CLNHGVS=NC_000015.10:g.89318572G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769193603 15 89318595 21312 T C . . AF_ESP=0.02754;AF_EXAC=0.02813;AF_TGP=0.01138;ALLELEID=34164;CLNDISDB=.|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:ORPHA84,SNOMED_CT:30575002|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Association_with_valproate-induced_liver_toxicity|Seizures|Progressive_sclerosing_poliodystrophy|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Mitochondrial_DNA_depletion_syndrome_4B,_MNGIE_type|Fanconi_anemia|Autosomal_dominant_progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions_1|Mitochondrial_disease|POLG-Related_Spectrum_Disorders|not_specified|none_provided|not_provided;CLNHGVS=NC_000015.10:g.89318595T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:34587|Illumina_Laboratory_Services,Illumina:842334|ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:7ab61a4c-7405-4783-9e9a-7d5720801142|GenomeConnect-Association_for_Creatine_Deficiencies,_Association_for_Creatine_Deficiencies:nvtaconnect_CreatineDef_65147_933|UniProtKB_(protein):P54098#VAR_014909|HGMD:CM042765;GENEINFO=POLG:5428|FANCI:55215;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2307441 15 89318618 391039 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=376744;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN169374;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_specified;CLNHGVS=NC_000015.10:g.89318618G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:11dec182-b70a-412f-82d0-d883eef100df;GENEINFO=POLG:5428;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2307445 15 89318710 206560 C G . . ALLELEID=202923;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89318710C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753410045 15 89318729 138759 A G . . AF_ESP=0.00015;AF_EXAC=0.00009;ALLELEID=142462;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN169374|MedGen:CN517202;CLNDN=Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_specified|not_provided;CLNHGVS=NC_000015.10:g.89318729A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:fe670c6f-1ab5-474b-b6ad-3060263a49e8;GENEINFO=POLG:5428;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374224714 15 89318730 129995 T G . . ALLELEID=135441;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89318730T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:90f2d239-737d-4f99-89c0-28d14ee8af82;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587780421 15 89318737 206556 G A . . AF_ESP=0.00008;ALLELEID=202926;CLNDISDB=MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:ORPHA70595|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C3713421|MedGen:CN517202;CLNDN=Progressive_sclerosing_poliodystrophy|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1_(MNGIE_type)|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Mitochondrial_DNA_depletion_syndrome_4B,_MNGIE_type|Autosomal_dominant_progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions_1|Mitochondrial_disease|Childhood_myocerebrohepatopathy_spectrum|not_provided;CLNHGVS=NC_000015.10:g.89318737G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P54098#VAR_023686;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201732356 15 89318965 206553 C G . . AF_EXAC=0.00003;ALLELEID=202928;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519|MedGen:CN517202;CLNDN=Mitochondrial_disease|POLG-Related_Spectrum_Disorders|not_provided;CLNHGVS=NC_000015.10:g.89318965C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:651261|ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:e7760185-21c1-40f7-bd28-047f6a75ea1c;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779956099 15 89323415 129991 G A . . AF_ESP=0.00777;AF_EXAC=0.01306;AF_TGP=0.00479;ALLELEID=135437;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Seizures|Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|POLG-Related_Spectrum_Disorders|not_specified|none_provided|not_provided;CLNHGVS=NC_000015.10:g.89323415G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:51283|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:34576;GENEINFO=POLG:5428;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41564016 15 89324193 21310 C T . . AF_ESP=0.00069;AF_EXAC=0.00715;AF_TGP=0.00899;ALLELEID=34162;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Seizures|Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|POLG-Related_Spectrum_Disorders|not_specified|none_provided|not_provided;CLNHGVS=NC_000015.10:g.89324193C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P54098#VAR_014907|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:37409|Illumina_Laboratory_Services,Illumina:747814;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2307450 15 89326688 21309 G A . . AF_ESP=0.00577;AF_TGP=0.00479;ALLELEID=34161;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN169374|MedGen:CN517202;CLNDN=Seizures|Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|not_specified|not_provided;CLNHGVS=NC_000015.10:g.89326688G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P54098#VAR_014906;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2307447 15 89328268 667951 T C . . AF_TGP=0.55990;ALLELEID=668455;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Mitochondrial_disease|not_provided;CLNHGVS=NC_000015.10:g.89328268T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:d1258e9a-92df-4419-9bed-fffa26fd7404;GENEINFO=POLG:5428;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3176174 15 89333177 21318 C T . . AF_ESP=0.00054;AF_EXAC=0.00023;AF_TGP=0.00060;ALLELEID=34170;CLNDISDB=Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:ORPHA726,SNOMED_CT:20415001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4763519|MedGen:CN517202;CLNDN=Seizures|Progressive_sclerosing_poliodystrophy|Mitochondrial_disease|POLG-Related_Spectrum_Disorders|not_provided;CLNHGVS=NC_000015.10:g.89333177C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:618470|UniProtKB_(protein):P54098#VAR_019267;GENEINFO=POLG:5428;MC=SO:0001583|missense_variant;ORIGIN=1;RS=3176162 15 89333593 206487 C T . . AF_EXAC=0.00001;ALLELEID=203054;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN169374;CLNDN=Mitochondrial_disease|not_specified;CLNHGVS=NC_000015.10:g.89333593C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=POLG:5428;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=796052878 16 31091000 226016 C T . . AF_TGP=0.41973;ALLELEID=227783;CLNDISDB=MONDO:MONDO:0011837,MedGen:C1843832,OMIM:607473|MedGen:CN236549;CLNDN=Vitamin_K-dependent_clotting_factors,_combined_deficiency_of,_2|warfarin_response_-_Dosage;CLNHGVS=NC_000016.10:g.31091000C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445585748PA450921|PharmGKB:655384733|PharmGKB:1445585748PA452632|PharmGKB_Clinical_Annotation:655384733|PharmGKB_Clinical_Annotation:1445585748|PharmGKB:655384733PA451906|Illumina_Laboratory_Services,Illumina:17068|PharmGKB:1445585748;GENEINFO=VKORC1:79001;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=7294 16 31092475 225975 A G . . AF_TGP=0.60963;ALLELEID=227784;CLNDISDB=MedGen:CN236549|MedGen:CN517202;CLNDN=warfarin_response_-_Dosage|not_provided;CLNHGVS=NC_000016.10:g.31092475A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:655385024|PharmGKB:655385024PA451906|PharmGKB_Clinical_Annotation:655385024;GENEINFO=VKORC1:79001;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2359612 16 31093188 226026 C G . . AF_TGP=0.41633;ALLELEID=227785;CLNDISDB=MedGen:CN169374|MedGen:CN236549;CLNDN=not_specified|warfarin_response_-_Dosage;CLNHGVS=NC_000016.10:g.31093188C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:655385028|PharmGKB:655385028PA451906|PharmGKB:655385028;GENEINFO=VKORC1:79001;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8050894 16 31093557 37344 G A . . AF_TGP=0.35583;ALLELEID=38302;CLNDISDB=MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700|MedGen:CN169374|MedGen:CN236457|MedGen:CN236542|MedGen:CN236549|MedGen:CN239236;CLNDN=Warfarin_response|not_specified|acenocoumarol_response_-_Dosage|phenprocoumon_response_-_Dosage|warfarin_response_-_Dosage|Vitamin_K-Dependent_Clotting_Factors;CLNHGVS=NC_000016.10:g.31093557G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:1183704228|PharmGKB:655385392|Illumina_Laboratory_Services,Illumina:565462|PharmGKB:655385392PA451906|PharmGKB_Clinical_Annotation:655385392|PharmGKB:1183704228PA450921|OMIM_Allelic_Variant:608547.0008|PharmGKB:1183704228|PharmGKB:1183704228PA452632;GENEINFO=VKORC1:79001;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9934438 16 31094233 225983 A C . . AF_ESP=0.20684;AF_EXAC=0.19190;AF_TGP=0.09145;ALLELEID=227787;CLNDISDB=MedGen:CN236549;CLNDN=warfarin_response_-_Dosage;CLNHGVS=NC_000016.10:g.31094233A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:982035703|PharmGKB:982035703PA451906|PharmGKB:982035703;GENEINFO=VKORC1:79001;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2884737 16 31096368 226030 C A . . ALLELEID=227781;CLNDISDB=MedGen:CN236624;CLNDN=warfarin_response_-_Toxicity/ADR;CLNHGVS=NC_000016.10:g.31096368C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:981204044|PharmGKB:981204044|PharmGKB:1447672998PA451906|PharmGKB_Clinical_Annotation:1447673005|PharmGKB:1449269910PA452632|PharmGKB:1447672998|PharmGKB:981204044PA450921|PharmGKB:1447673005PA451906|PharmGKB_Clinical_Annotation:1447672998|PharmGKB:655385012|PharmGKB:1447673005|PharmGKB:655385012PA451906|PharmGKB:981204044PA452632|PharmGKB_Clinical_Annotation:655385012;GENEINFO=VKORC1:79001;ORIGIN=1;RS=9923231 16 31096368 2211 C T . . AF_TGP=0.35563;ALLELEID=17250;CLNDISDB=.|.|MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700|MedGen:CN169374|MedGen:CN236542|MedGen:CN517202;CLNDN=phenprocoumon_response_-_Toxicity|warfarin_response_-_Toxicity|Warfarin_response|not_specified|phenprocoumon_response_-_Dosage|not_provided;CLNHGVS=NC_000016.10:g.31096368C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:608547.0006;GENEINFO=VKORC1:79001;ORIGIN=1;RS=9923231 16 55823658 226014 C T . . AF_ESP=0.00662;AF_EXAC=0.01422;ALLELEID=227812;CLNDISDB=.|MedGen:CN236508|MedGen:CN517202;CLNDN=clopidogrel_response_-_Metabolism/PK|clopidogrel_response_-_Efficacy|not_provided;CLNHGVS=NC_000016.10:g.55823658C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:982030805|PharmGKB:982030805|PharmGKB:982030805PA449053;GENEINFO=CES1:1066;MC=SO:0001583|missense_variant;ORIGIN=1;RS=71647871 16 68737131 12247 C A . . AF_TGP=0.23562;ALLELEID=27286;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN300425|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Prostate_cancer,_susceptibility_to|not_provided;CLNHGVS=NC_000016.10:g.68737131C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:192090.0018|ClinGen_CDH1_Variant_Curation_Expert_Panel,:2f807d0a-bebc-49a4-9156-a324ecb1e52b;GENEINFO=CDH1:999;ORIGIN=1;RS=16260 16 68737345 221174 C G . . AF_TGP=0.00559;ALLELEID=222491;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68737345C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:5909e08b-576f-42dd-b96d-754e4e34b4cd|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:88623|Illumina_Laboratory_Services,Illumina:166023;GENEINFO=CDH1:999;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=34033771 16 68737357 419385 A AGCCCG . . ALLELEID=409665;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|not_specified;CLNHGVS=NC_000016.10:g.68737358GCCCG[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:30836981-bd2f-4569-aa8e-e0916d43c904;GENEINFO=CDH1:999;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1064793834 16 68737366 234282 C G . . ALLELEID=231958;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68737366C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:40774eec-8643-4d45-a466-cb4a0e3ff3bf;GENEINFO=CDH1:999;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876660969 16 68737366 422227 C T . . ALLELEID=409664;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68737366C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:7cda59fb-ae40-4d49-a202-604a7857e4f1;GENEINFO=CDH1:999;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876660969 16 68737371 421431 C T . . ALLELEID=409667;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68737371C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:a071fe2b-028d-48f5-bc98-f649a4181201;GENEINFO=CDH1:999;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1064795133 16 68737416 532457 A G . . ALLELEID=530216;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68737416A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555509622 16 68737417 1292057 T A . . ALLELEID=1281870;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68737417T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1 16 68737417 486826 T C . . ALLELEID=477817;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000016.10:g.68737417T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555509623 16 68737417 532474 T G . . ALLELEID=530112;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68737417T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555509623 16 68737418 239906 G A . . ALLELEID=242448;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68737418G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d13fa937-98cf-4da0-956f-8d7d5543f0a3|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843088;GENEINFO=CDH1:999;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=878854691 16 68737419 183998 G A . . ALLELEID=184307;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68737419G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:a870dd72-f029-4e34-b558-341fb7b9051c;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786201212 16 68737420 239909 G T . . ALLELEID=242449;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68737420G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:fcab5afd-fdd3-42f2-80d2-b7981264e7a7;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=878854692 16 68737422 418111 C T . . ALLELEID=409669;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68737422C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:916169ad-d424-4f36-8530-42c87c14d450;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1064793079 16 68737423 142469 C G . . ALLELEID=152183;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000016.10:g.68737423C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18033_605|ClinGen_CDH1_Variant_Curation_Expert_Panel,:e8086e46-6b34-49be-97a3-19ddcfa1b1db;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782484 16 68737426 918853 G A . . ALLELEID=913716;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68737426G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1962423346 16 68737427 548782 G A . . ALLELEID=539346;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68737427G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:a5d1c624-204f-4283-a6ba-356be9baf780;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555509636 16 68737441 651982 C A . . ALLELEID=644813;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68737441C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555509646 16 68737444 220798 C CGCT . . ALLELEID=222493;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68737447TGC[6];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:61226fb6-6dcd-4205-96fc-9fba9b2b61c6|Invitae:195572;GENEINFO=CDH1:999;MC=SO:0001821|inframe_insertion,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782476 16 68737444 142455 C CGCTGCT . . ALLELEID=152169;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68737447TGC[7];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:32a09493-4519-46f6-b57a-e60d03a9272e|Invitae:755512;GENEINFO=CDH1:999;MC=SO:0001821|inframe_insertion,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782476 16 68737448 182377 G C . . AF_EXAC=0.00000;ALLELEID=180765;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68737448G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829704|Illumina_Laboratory_Services,Illumina:810107|ClinGen_CDH1_Variant_Curation_Expert_Panel,:1f318c7a-27f7-45cf-93c7-a000171e164e;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=730881654 16 68737464 449341 G A . . ALLELEID=445599;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68737464G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:8608d63b-7b00-4c76-a9f7-a0b9a5502446;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1440280370 16 68737468 140784 C G . . AF_ESP=0.01808;AF_TGP=0.03474;ALLELEID=150498;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68737468C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829707|Illumina_Laboratory_Services,Illumina:547946|ClinGen_CDH1_Variant_Curation_Expert_Panel,:1f5a92b8-7747-42bb-83cd-f8c57088c41b|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:38257;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77312180 16 68737468 491543 C T . . ALLELEID=484853;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000016.10:g.68737468C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:8b836460-28fb-4877-8402-7b4e8c19a81e;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77312180 16 68737469 136692 C T . . AF_ESP=0.86033;AF_EXAC=0.81114;AF_TGP=0.76338;ALLELEID=140395;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Blepharocheilodontic_syndrome_1|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68737469C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:17633|ClinGen_CDH1_Variant_Curation_Expert_Panel,:8d8df1c3-7f35-4fd0-b000-ac8c42aa2d4c|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17751;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3743674 16 68738288 516511 C A . . ALLELEID=506405;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000016.10:g.68738288C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:22db38a0-5102-423e-b1e4-3c09530028b3;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1555509752 16 68738289 387465 C T . . ALLELEID=377647;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68738289C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:555642f7-bae2-4755-84a5-d33f4e75cdc2;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=774761552 16 68738294 421050 C A . . ALLELEID=409670;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68738294C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:1e714af0-0962-48c1-8233-fdf4cbbd84b3;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587782366 16 68738294 142294 C T . . ALLELEID=152008;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68738294C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:385373d2-025f-43b5-be8a-5c0aa6af9901;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587782366 16 68738295 406631 A G . . ALLELEID=401994;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68738295A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:54dcc832-3023-40ec-9a6b-4f1a1a483159;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1060501226 16 68738307 12239 G A . . ALLELEID=27278;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68738307G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:192090.0009|ClinGen_CDH1_Variant_Curation_Expert_Panel,:7421ee61-7174-481d-b6bd-1800d58e9755;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121964875 16 68738308 187239 G A . . ALLELEID=184313;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68738308G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:acb398fe-3559-4b3d-8bbd-29b7dfb5b8a2;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786203576 16 68738309 234812 C A . . ALLELEID=231959;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68738309C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:e3728258-c1cd-4604-a579-317d7dfcaf51;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=863224729 16 68738309 230175 C G . . ALLELEID=235349;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68738309C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:8d14ba7e-4b70-4457-a487-62b5bad7739f;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=863224729 16 68738317 186050 G A . . ALLELEID=184314;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68738317G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:2823e92b-717a-4984-8f92-73b8b7effb19;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786202657 16 68738318 12240 G T . . ALLELEID=27279;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68738318G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:192090.0011|ClinGen_CDH1_Variant_Curation_Expert_Panel,:7b7c5f44-b3d4-4d24-8272-50aaad05a175;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121964876 16 68738324 183750 G T . . ALLELEID=184316;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68738324G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9b90b5f6-9dbb-4ca2-8a24-3bf4cbd439f6;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786201058 16 68738327 239913 C T . . ALLELEID=242450;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68738327C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9a9082a0-343e-4b16-a256-c64b923d37b2;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=878854696 16 68738336 127933 C A . . AF_ESP=0.00105;AF_EXAC=0.00094;AF_TGP=0.00040;ALLELEID=133390;CLNDISDB=MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Orofacial_cleft|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000016.10:g.68738336C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d1e6757d-87b2-428c-a699-e2ac2893485c|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2322654|Illumina_Laboratory_Services,Illumina:17643|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:102985;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=139866691 16 68738361 231383 C A . . AF_EXAC=0.00005;ALLELEID=235355;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68738361C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778171 16 68738361 133850 C T . . ALLELEID=137589;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68738361C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778171 16 68738368 184377 G A . . ALLELEID=184320;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000016.10:g.68738368G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:5ff7f54c-35a4-4b6b-a1d0-1a7350acb673;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786201115 16 68738372 230956 CCC T . . ALLELEID=235356;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68738372_68738374delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:88a545eb-341c-416c-944c-9454a71b04e5;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876658865 16 68738398 239883 C A . . ALLELEID=242451;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68738398C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:92f144f5-1369-44fc-9593-e69ef87fed36|Illumina_Laboratory_Services,Illumina:920718;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786201262 16 68738413 186186 T TGAG . . ALLELEID=184325;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68738415_68738417dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:651049|ClinGen_CDH1_Variant_Curation_Expert_Panel,:a79f4984-818c-4f25-a6dd-309d69774bd8;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1205684749 16 68801670 132769 T G . . ALLELEID=136517;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68801670T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2429993;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587778174 16 68801693 156496 C T . . ALLELEID=166261;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68801693C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:be4384f2-4317-4809-956c-12533c2847e1;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587783047 16 68801694 127919 G A . . AF_EXAC=0.00006;ALLELEID=133376;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68801694G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:4de15575-228f-4350-8bab-2e2dbfd23694;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587780117 16 68801707 185408 CT C . . ALLELEID=184330;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68801708del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3546252|ClinGen_CDH1_Variant_Curation_Expert_Panel,:0be29cc3-a4b0-4139-a8bf-c692422baea7;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786202151 16 68801709 463742 A AT . . ALLELEID=465837;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68801714dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:529b4404-fa68-47ea-9b98-9114bb2d72ba;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555514406 16 68801726 239891 C T . . ALLELEID=242453;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580;CLNDN=Endometrial_carcinoma|Malignant_tumor_of_prostate|Neoplasm_of_ovary|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Blepharocheilodontic_syndrome_1;CLNHGVS=NC_000016.10:g.68801726C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:8e4651fc-c286-49aa-95c4-13401d26f84a;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876658932 16 68801731 406646 C G . . ALLELEID=401267;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68801731C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:93ac705b-e85f-467d-b189-38bc00c12f90;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=767019668 16 68801765 463772 AG A . . ALLELEID=466561;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68801767del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1491278|ClinGen_CDH1_Variant_Curation_Expert_Panel,:27459987-4e77-430a-a45a-6fece7004cb7;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555514429 16 68801775 142692 G A . . AF_EXAC=0.00003;ALLELEID=152406;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68801775G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782647 16 68801789 463775 C T . . AF_EXAC=0.00001;ALLELEID=465844;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68801789C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:b376ba62-95aa-49c6-8b93-54ef1ce4448e;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=781409616 16 68801792 220611 A G . . AF_EXAC=0.00016;ALLELEID=222499;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68801792A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d9039763-3145-4298-b468-da3967101df3;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=749306433 16 68801810 142578 G A . . AF_EXAC=0.00026;ALLELEID=152292;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68801810G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:8f035f54-b2e9-48e3-9d30-9a4398d435a8|Illumina_Laboratory_Services,Illumina:134253;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=368492235 16 68801814 483227 G A . . ALLELEID=477762;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68801814G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:2ca4f6ef-375f-4771-ace3-53cb405bc69b;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555514464 16 68801819 422315 TC T . . ALLELEID=409677;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68801821del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:97caf259-aeae-41f1-b381-74069cc41be9;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1064795703 16 68801830 136691 A G . . AF_ESP=0.00231;AF_EXAC=0.00104;AF_TGP=0.00339;ALLELEID=140394;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68801830A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d6d29fdd-b27d-4917-bbcc-7116b29d2805;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=116542018 16 68801843 234594 A T . . ALLELEID=231963;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68801843A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:42e9bffc-fe2b-4d76-b132-479a024adf4e;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876661106 16 68801851 132720 G A . . AF_ESP=0.00300;AF_EXAC=0.00392;AF_TGP=0.00260;ALLELEID=136468;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68801851G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:5dbf88d6-93ad-47cd-a52a-8c52238023d1|Illumina_Laboratory_Services,Illumina:75101|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:111695;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1801023 16 68801862 239903 T TG . . ALLELEID=242457;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68801866dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:e116f274-4c06-47a0-a9a0-fef88440fff9;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=878854690 16 68801869 582514 C A . . AF_EXAC=0.00002;ALLELEID=574104;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68801869C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:b0388c61-4118-4cf7-90e1-627bd8d2bf84;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=781427897 16 68801874 567576 A ACCGCCCC . . ALLELEID=570341;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68801875CCGCCCC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:f95f187d-ae7b-4e38-8df0-a1bc2fdeb7cb;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1567501500 16 68801877 406616 GC G . . ALLELEID=401241;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68801883del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:948830|ClinGen_CDH1_Variant_Curation_Expert_Panel,:ada0fe2a-2b8f-4adf-884f-b6724e44c863;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1060501215 16 68801884 486824 GC G . . ALLELEID=477827;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68801888del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:df80cd71-95e2-4ee3-b0bb-62143042f6c7;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555514492 16 68801894 141661 G A . . AF_EXAC=0.00001;ALLELEID=151375;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68801894G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d06959f9-be16-41fc-a894-2c79db85ed90;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587781919 16 68801898 142462 G A . . AF_EXAC=0.00001;ALLELEID=152176;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68801898G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:13ac5b7d-ad35-4b9b-a22d-b93011e6dd36;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113055163 16 68801899 387275 T C . . AF_EXAC=0.00001;ALLELEID=374449;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68801899T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=764434962 16 68808470 491536 CCT C . . ALLELEID=484892;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808472TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:b0e566e8-f394-4d9f-b6a9-3f29c1b5705c;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515197 16 68808482 428626 T TCAGAAGA . . ALLELEID=420590;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808483CAGAAGA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:7ce5de54-641d-4f31-a8d5-7e40aabea427;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690815 16 68808482 545785 TCAGAAGA T . . ALLELEID=536472;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68808483CAGAAGA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4932870|ClinGen_CDH1_Variant_Curation_Expert_Panel,:f4309be3-2adc-4a73-a0ed-4230f27926b3;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690815 16 68808486 491537 AAGACAGAAGAG A . . ALLELEID=484869;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68808491_68808501del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:3df65cbe-495c-4fb7-aaa9-7e0533effaa2;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515210 16 68808492 491538 GAAGA G . . ALLELEID=484874;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808493_68808496del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:803b9285-eb66-46d9-9b50-0894c44a93be;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515214 16 68808493 569046 A T . . ALLELEID=574106;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68808493A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:a5c65338-7170-417c-941a-c6aec2c6df65;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1567504575 16 68808503 463781 G A . . ALLELEID=466817;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68808503G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:6cb9aca3-f806-41d5-9c8e-94aa0916aee1;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515215 16 68808504 234595 G A . . ALLELEID=231965;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68808504G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:75d0c13c-882a-4aa1-b645-938f0843a0d3;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876661107 16 68808516 479524 CATCAGC AGAATA . . ALLELEID=477765;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808516_68808522delinsAGAATA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9b7f21ff-48e0-4483-9bac-0393271e0fbc;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515217 16 68808525 420004 C A . . ALLELEID=409678;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68808525C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:16aa3ae6-e72f-4623-bd36-e264690dbee1;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1064794230 16 68808535 219431 G A . . AF_EXAC=0.00001;ALLELEID=222502;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68808535G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=769076258 16 68808535 220776 GA G . . ALLELEID=222503;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68808540del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:47cfd75c-4c6e-4e49-a686-94e05a7c43db|Invitae:128261;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=864622655 16 68808548 423041 T G . . AF_EXAC=0.00001;ALLELEID=409679;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68808548T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:3a340a0d-25b6-41ce-96e4-0b17f8aad1f6;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=772622109 16 68808552 140803 T TA . . ALLELEID=150517;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68808557dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:7f7ae9a1-f6ed-4488-abe5-18ab7289bf2b;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587781290 16 68808558 406654 C A . . ALLELEID=402026;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68808558C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843667|ClinGen_CDH1_Variant_Curation_Expert_Panel,:ccdc217a-3fe6-4800-95a5-41c2642d0666;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=571581856 16 68808565 481011 C T . . ALLELEID=477752;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808565C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:fce52144-38d6-4386-a568-62d04d0ef2da;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515232 16 68808568 428618 G A . . ALLELEID=420591;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808568G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:ca028ce0-bd1d-431b-bc8a-5a093746c744;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1131690808 16 68808577 132692 G C . . AF_ESP=0.03855;AF_EXAC=0.03828;AF_TGP=0.01797;ALLELEID=136440;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68808577G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:49725|ClinGen_CDH1_Variant_Curation_Expert_Panel,:6b267be1-2f40-4c99-98c5-0bdcf3e6c3b5|Illumina_Laboratory_Services,Illumina:68804;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=33963999 16 68808692 406644 G C . . AF_EXAC=0.00001;ALLELEID=401743;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68808692G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:178322a8-a2f1-4290-9b3a-886e742bd5fa;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=771085839 16 68808696 496233 A G . . ALLELEID=487892;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68808696A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:c47d2e21-ae8f-4349-b873-bb19817b9e24;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515244 16 68808707 140853 A C . . AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=150567;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68808707A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=201141645 16 68808755 485476 C CT . . ALLELEID=477769;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808755_68808756insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9fe1e31b-d994-476f-84f3-12442435bc63;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515264 16 68808763 428620 CT C . . ALLELEID=420592;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68808764del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:823147f4-0b00-4f3e-b750-2a3f3dec1ee0;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690809 16 68808765 133853 G A . . AF_EXAC=0.00059;AF_TGP=0.00200;ALLELEID=137592;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68808765G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:685869|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2534595|ClinGen_CDH1_Variant_Curation_Expert_Panel,:4f56b139-4c6b-4107-aebc-4368f6c6f68b;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=546716073 16 68808765 230948 G C . . ALLELEID=235375;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000016.10:g.68808765G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:29cd6894-daab-4beb-9431-408d46559941;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=546716073 16 68808775 599654 T C . . ALLELEID=590987;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68808775T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:36659513-f448-4457-900a-485812518ebb;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1567504835 16 68808796 479488 G T . . ALLELEID=477773;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808796G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:7900d2e0-27b5-45b8-841e-fc65c3aad8ef;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515276 16 68808815 488647 GC G . . ALLELEID=481516;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68808817del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843473|Invitae:3178720|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2219363|ClinGen_CDH1_Variant_Curation_Expert_Panel,:442ddbe1-97e7-458e-82c5-7def1bb4661a;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515284 16 68808831 127932 C T . . AF_ESP=0.00015;AF_EXAC=0.00017;ALLELEID=133389;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0020147,MedGen:CN120488,Orphanet:ORPHA98555|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Anophthalmia-microphthalmia_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000016.10:g.68808831C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d4d12c86-59cb-40a8-92ec-13925d97080a|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855186;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=200310662 16 68808832 41786 G A . . AF_EXAC=0.00003;ALLELEID=50225;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68808832G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:204121;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=201511530 16 68808849 567608 G A . . ALLELEID=570357;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808849G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d24a9d1c-9aec-4c53-8eb0-84653a8875b9;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1567504977 16 68808850 463790 T C . . ALLELEID=466839;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68808850T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:8baa17b3-d7bd-464a-aea7-f82966a2d7a0;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1555515297 16 68810200 406615 TTC T . . ALLELEID=401262;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68810201TC[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9b03e28d-685a-4819-a353-755b36c80ff2;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1060501214 16 68810216 182393 C A . . ALLELEID=180771;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68810216C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:2c0f14e8-757a-4e28-a82b-c6cad675d862;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=730881663 16 68810224 132709 G A . . ALLELEID=136457;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68810224G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587780537 16 68810228 428631 AT A . . ALLELEID=420593;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68810229del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:70e74b13-a41c-4cf6-b85e-460c5d4ef016;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690819 16 68810269 599656 G C . . ALLELEID=590988;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68810269G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:07c40511-607b-44ff-8565-e682c5ce756f;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515445 16 68810290 12234 G T . . ALLELEID=27273;CLNDISDB=MONDO:MONDO:0000552,MedGen:C3549742|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Breast_cancer,_lobular|Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68810290G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:192090.0004|ClinGen_CDH1_Variant_Curation_Expert_Panel,:ef1e305b-a891-4916-8546-9393fd0c9b4a;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=121964873 16 68810302 406633 G T . . ALLELEID=401760;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68810302G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:fa795b67-a5d9-42c3-ac78-94f3c3c2bd94;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876659503 16 68810329 186326 G A . . AF_EXAC=0.00012;ALLELEID=184356;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68810329G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1880684;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=781513008 16 68810342 463795 G A . . ALLELEID=465864;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|none_provided;CLNHGVS=NC_000016.10:g.68810342G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:cc34c30c-3789-40a7-9f1b-131a3a3bfb85|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2269730;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=878854697 16 68810342 239914 G T . . ALLELEID=242465;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68810342G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:ca8eb295-29b0-45b5-8879-6065cde6d70d;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=878854697 16 68811668 136694 C G . . AF_ESP=0.00377;AF_EXAC=0.00092;AF_TGP=0.00319;ALLELEID=140397;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68811668C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:c5186cdf-100d-4f7f-9234-13d83af123e8;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=33984587 16 68811682 439045 A G . . ALLELEID=432884;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68811682A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:a2223df7-8e99-49a0-b892-919ff9299d5e;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1555515596 16 68811717 216597 C T . . AF_EXAC=0.00003;ALLELEID=213200;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000016.10:g.68811717C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=780399325 16 68811743 41787 G A . . AF_ESP=0.00015;AF_EXAC=0.00054;AF_TGP=0.00040;ALLELEID=50226;CLNDISDB=Human_Phenotype_Ontology:HP:0003003,Human_Phenotype_Ontology:HP:0006718,MONDO:MONDO:0021063,MedGen:C0007102,SNOMED_CT:363406005|Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356,SNOMED_CT:126824007|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_colon|Neoplasm_of_stomach|Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68811743G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:1d1c6414-89d7-42c8-85d3-38f95b02cc08|Illumina_Laboratory_Services,Illumina:550982|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2522220;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=142822590 16 68811784 142633 C G . . AF_ESP=0.01031;AF_EXAC=0.00288;AF_TGP=0.00779;ALLELEID=152347;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68811784C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:85884|Illumina_Laboratory_Services,Illumina:651265|ClinGen_CDH1_Variant_Curation_Expert_Panel,:26c6bf48-df87-4a41-afb6-583df51c559f;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=35539711 16 68811791 428632 A T . . ALLELEID=420596;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68811791A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:8277d227-4d10-4ebb-bc74-fee3cba23a52;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690820 16 68811854 136055 C T . . ALLELEID=139767;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68811854C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:ce612d02-2bbe-433b-a871-e4ddcfeca78d;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587780784 16 68811859 231647 G A . . ALLELEID=235390;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68811859G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:03f19343-ea6f-460e-b6f5-a18145f32513;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267606712 16 68811859 18453 G T . . ALLELEID=33492;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68811859G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:f17d1590-599b-49d7-a1e0-273ed56fef12|OMIM_Allelic_Variant:192090.0005|UniProtKB_(protein):P12830#VAR_001310;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267606712 16 68811861 406652 T C . . ALLELEID=402040;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68811861T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:24d1a63e-11db-4d0c-85c0-5d1e6efcbcf0;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1060501237 16 68812132 183727 CAG C . . ALLELEID=184370;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68812133AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:1df1468c-5fef-4c6c-956a-e4d26dc68f5e;GENEINFO=CDH1:999;ORIGIN=1;RS=786201045 16 68812144 12245 A G . . AF_TGP=0.00020;ALLELEID=27284;CLNDISDB=Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Adenocarcinoma_of_stomach|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000016.10:g.68812144A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:192090.0016|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2684800|Illumina_Laboratory_Services,Illumina:658420|ClinGen_CDH1_Variant_Curation_Expert_Panel,:de5b0e27-fa33-4621-930e-61569417ceff|UniProtKB_(protein):P12830#VAR_013971;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=116093741 16 68812149 156374 T G . . ALLELEID=166156;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68812149T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:36f417ce-8eb5-453a-99cc-96c68913737f;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587776398 16 68812155 449922 G GGT . . ALLELEID=445601;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68812157_68812158dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:09853863-c57c-41eb-9d75-991bf830929e;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515721 16 68812177 532473 C T . . ALLELEID=530138;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68812177C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:7d455de9-958f-460b-8990-85a41ab7450a;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515726 16 68812183 234571 G A . . ALLELEID=231969;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68812183G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876661091 16 68812188 224528 GT G . . ALLELEID=226361;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68812190del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9c7b15f1-c81d-4e2e-afc8-adffdaf11274;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515731 16 68812210 483264 GT G . . ALLELEID=477802;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68812211del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:c5d03db0-c5d6-426b-9059-585ca0cccb44;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555515739 16 68812232 578952 AC A . . ALLELEID=570396;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68812233del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:5d964472-4cd7-4f3e-a23e-6ada2ea26007;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1567507138 16 68812244 142285 C T . . ALLELEID=151999;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68812244C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:1aac37aa-cb97-4617-9023-3e7f155f338f;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782359 16 68812254 428623 TC T . . ALLELEID=420597;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68812257del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:f51729c7-8a69-436a-9f07-26150679b088;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690812 16 68812262 231923 CG C . . ALLELEID=235396;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68812264del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:aba22350-eead-47f1-98cf-0044d77a26d6;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=876659446 16 68812263 156499 G A . . ALLELEID=166264;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C3149287|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Gastric_cancer,_familial_diffuse,_and_cleft_lip_with_or_without_cleft_palate|not_provided;CLNHGVS=NC_000016.10:g.68812263G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:192090.0020|ClinGen_CDH1_Variant_Curation_Expert_Panel,:3a1d0937-896d-4522-8899-90ddc6945ae1;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587783050 16 68812263 599655 G T . . ALLELEID=590989;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68812263G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:e4b2700f-9760-4cfc-8513-12d276db2589;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587783050 16 68812264 233979 G A . . ALLELEID=235395;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68812264G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841963|ClinGen_CDH1_Variant_Curation_Expert_Panel,:8ce34bc3-a1c5-4a8f-b0a7-bacacf8a921a;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=876660771 16 68812265 186267 T C . . ALLELEID=184374;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68812265T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:b74cbc6f-6e60-4c2e-a118-4341cfa4777f;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=786202817 16 68812349 223660 T G . . AF_TGP=0.00559;ALLELEID=225388;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68812349T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:98a6607b-0370-435a-a288-3bb09fdac1a2;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35160345 16 68813310 184346 C T . . AF_ESP=0.00054;AF_EXAC=0.00015;AF_TGP=0.00120;ALLELEID=184375;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68813310C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:44ff0837-63d3-46af-9fc3-d319e5146005|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2386470;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=36103202 16 68813322 142888 C T . . ALLELEID=152602;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580;CLNDN=Endometrial_carcinoma|Malignant_tumor_of_prostate|Neoplasm_of_ovary|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Blepharocheilodontic_syndrome_1;CLNHGVS=NC_000016.10:g.68813322C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:85e6ec9e-bbed-4967-a6af-72d3f6999902;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587782798 16 68813337 127906 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=133363;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68813337G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850658|ClinGen_CDH1_Variant_Curation_Expert_Panel,:5c24cb6c-a751-4e76-83ab-baccc23c4caa;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=372838203 16 68813344 574672 AC A . . ALLELEID=570369;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68813345del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9bda4d05-3d31-4994-8e8f-8c6f0b6f5162;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1567507724 16 68813349 127907 G A . . AF_ESP=0.00023;AF_EXAC=0.00016;AF_TGP=0.00080;ALLELEID=133364;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68813349G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:bd98b25e-474c-4452-882d-ca770a6c6389|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851165;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=141864044 16 68813400 133855 T C . . AF_EXAC=0.00003;ALLELEID=137594;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68813400T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:26997937-9088-4611-9ef8-bd80077ed64c;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587778176 16 68813409 428622 G GTA . . ALLELEID=420598;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68813410TA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:169b8ea6-d8f6-4bc7-8434-67e66ee59492;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131690811 16 68813472 127910 G A . . AF_EXAC=0.00002;ALLELEID=133367;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68813472G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:f04175e5-9dd2-4137-8102-442c8b07c0d7;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=199886166 16 68813473 141810 A G . . AF_EXAC=0.00007;ALLELEID=151524;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68813473A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:13766caf-9ff5-48fb-a208-1ee4d81736e0|Illumina_Laboratory_Services,Illumina:800452|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2556750;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=376097289 16 68813483 545807 GA G . . ALLELEID=536473;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68813487del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:b5811c1f-e4fd-48a9-b336-2896da3fd5b9;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555515920 16 68813496 265635 G C . . ALLELEID=260122;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Blepharocheilodontic_syndrome_1|not_provided;CLNHGVS=NC_000016.10:g.68813496G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9edb42a6-d4f3-408e-857f-aa10c232bd15|OMIM_Allelic_Variant:192090.0024;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039685 16 68815534 439040 AG A . . ALLELEID=432885;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68815535del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:eac3f3c3-6411-4f1e-8bd0-9dd4b76316e8;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555516089 16 68815547 265543 TCTAC T . . ALLELEID=260123;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68815548_68815551del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9d69b4f3-8f18-42f4-9ad0-719f091202ce;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886039612 16 68815582 483271 AG A . . ALLELEID=477877;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68815584del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:6ce63663-2faf-44c1-ae7d-bd550b9c28d2;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555516111 16 68815601 428633 CA C . . ALLELEID=420599;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68815602del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:e338dcbc-38e5-47e2-bb62-ac1e7907225c;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690821 16 68815603 127913 C T . . AF_EXAC=0.00003;ALLELEID=133370;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68815603C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832707|ClinGen_CDH1_Variant_Curation_Expert_Panel,:1149db17-78d8-4b2c-bbd4-e5f6b193a1eb|UniProtKB_(protein):P12830#VAR_001315;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=370864592 16 68815610 136059 C T . . AF_ESP=0.00008;ALLELEID=139771;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000016.10:g.68815610C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:04760fd5-272b-4a69-8207-770e26e6afd5;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=139937234 16 68815636 491497 AT A . . ALLELEID=484929;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68815637del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:12091b2d-cd93-4041-be48-e1f93b317490;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555516137 16 68815651 567085 TTG T . . ALLELEID=570400;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68815652TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:682240bb-090e-4b45-9fa1-c93c2e646a05;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1567508939 16 68815665 231528 AAG A . . ALLELEID=235410;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68815666AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854430|Invitae:1978552|ClinGen_CDH1_Variant_Curation_Expert_Panel,:03a64499-edc2-48d1-b28d-14e33704cb3d;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876659208 16 68815674 485481 G T . . ALLELEID=477826;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68815674G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:c488215c-7af9-4f59-98ec-ef006c6c4f83;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=778871891 16 68815680 229907 TCCGAGGA T . . ALLELEID=235411;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68815682_68815688del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:f4cc2a94-3541-4121-abe1-a72e59d7a6bf|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853800;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876658261 16 68815687 234528 A C . . ALLELEID=231973;CLNDISDB=MONDO:MONDO:0000552,MedGen:C3549742|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_cancer,_lobular|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68815687A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852382|ClinGen_CDH1_Variant_Curation_Expert_Panel,:b16b8eee-01a1-4a10-b40c-0f1bf8dc18b7;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876661065 16 68815696 224529 TG T . . ALLELEID=226362;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68815699del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=869312765 16 68815725 428621 C T . . ALLELEID=420600;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68815725C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:8c4ec2f8-cea4-44f6-ab24-a65cde5ecde7;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690810 16 68815759 421639 CG C . . ALLELEID=409697;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68815760del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1064795267 16 68815760 127915 G A . . ALLELEID=133372;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000016.10:g.68815760G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=587780113 16 68815760 406622 G C . . ALLELEID=401285;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68815760G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587780113 16 68815760 406624 G GT . . ALLELEID=401300;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|none_provided;CLNHGVS=NC_000016.10:g.68815761dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:868195|ClinGen_CDH1_Variant_Curation_Expert_Panel,:f3284e5b-5df2-4a09-a584-cef2afeff39a;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1555516200 16 68815760 141206 G T . . ALLELEID=150920;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68815760G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854125|ClinGen_CDH1_Variant_Curation_Expert_Panel,:86d8c205-2b95-4efe-99b1-05c23e281f1d;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587780113 16 68819278 463723 A G . . ALLELEID=466898;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68819278A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555516520 16 68819279 481704 G C . . ALLELEID=477859;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68819279G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=113583899 16 68819283 479518 T A . . ALLELEID=478465;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68819283T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:06d1d804-aff1-42eb-af50-e6526e8ea2d9;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=876659716 16 68819292 265511 G A . . ALLELEID=260124;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68819292G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:dffb17c8-bb5d-434c-aefb-9a9dcaef0dc8;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=886039590 16 68819300 422539 C CT . . ALLELEID=409699;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68819301dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:55e01934-c703-4d75-ae7e-ad1eb3df27e3;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555516532 16 68819302 449339 G GC . . ALLELEID=445602;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68819304dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:552d88d5-40c6-4f5f-a451-3c5da270c6db;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555516535 16 68819324 437928 CG C . . ALLELEID=431550;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68819326del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:47f620ff-80ee-453c-9f55-58567c1f14be;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555516545 16 68819327 216589 A T . . ALLELEID=213205;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68819327A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:7a7009f6-789d-458a-a313-c7508dc251da;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=863224726 16 68819347 481028 CG C . . ALLELEID=477869;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68819350del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555516556 16 68819392 479514 A AC . . ALLELEID=477875;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68819393dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555516567 16 68819393 234554 C G . . ALLELEID=231976;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000016.10:g.68819393C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:89320d2b-848b-4794-bcc3-84d990e99660;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=746481984 16 68819424 186618 TGGTAAG T . . ALLELEID=184421;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68819427_68819432del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:b1199911-3a8f-4212-a682-fae7a79aae9b|Invitae:8502342;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203089 16 68819426 428628 G A . . ALLELEID=420602;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68819426G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:35f43e27-91c5-4b71-a8e1-136519f0106b;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886041161 16 68819426 279747 G C . . ALLELEID=264968;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68819426G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:25dd0b43-ea24-4a9a-9397-1d65b3e0cdba;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886041161 16 68821999 234654 A C . . ALLELEID=231975;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000016.10:g.68821999A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:16a135d1-808c-43fb-b7d6-20a784233fd9;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=552325719 16 68822021 545756 A AC . . ALLELEID=536474;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68822022dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d3e665fc-fce1-44af-8e47-30ca0dc81fcd;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555516821 16 68822034 428629 T TG . . ALLELEID=420604;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68822035dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1131690817 16 68822063 41783 G A . . AF_ESP=0.00454;AF_TGP=0.00120;ALLELEID=50222;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68822063G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:281446|UniProtKB_(protein):P12830#VAR_001318|ClinGen_CDH1_Variant_Curation_Expert_Panel,:ba6046f9-9dfa-4961-912e-d1cadcaa922d;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=35187787 16 68822063 234610 G GC . . ALLELEID=231977;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68822068dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:3e24a117-e2ed-4f5e-9992-bd7eac3b6454;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=876661118 16 68822081 12241 C T . . ALLELEID=27280;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68822081C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:192090.0012|ClinGen_CDH1_Variant_Curation_Expert_Panel,:8d966550-3108-4786-8d4d-092988c239d6;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121964877 16 68822138 12232 G A . . AF_EXAC=0.00423;AF_TGP=0.01438;ALLELEID=27271;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68822138G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12830#VAR_001320|ClinGen_CDH1_Variant_Curation_Expert_Panel,:8fe2e0a3-670f-4cdb-bbf8-3836f7fc45e9|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:133603|OMIM_Allelic_Variant:192090.0002|Illumina_Laboratory_Services,Illumina:583379;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=33935154 16 68822154 136062 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=139774;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68822154A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855055;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=147925149 16 68822177 133846 C G . . AF_EXAC=0.00038;AF_TGP=0.00120;ALLELEID=137585;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000016.10:g.68822177C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:98319533-e1cd-4555-9251-571e07d52e56|UniProtKB_(protein):P12830#VAR_021868|Illumina_Laboratory_Services,Illumina:943952;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=2276331 16 68822179 406628 AAC A . . ALLELEID=402083;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68822180AC[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:65458bc2-ea32-41ce-87e1-c4fc4183acdc;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1060501224 16 68822185 141570 C T . . AF_ESP=0.02455;AF_EXAC=0.01142;AF_TGP=0.02276;ALLELEID=151284;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68822185C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:159259|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:26793|ClinGen_CDH1_Variant_Curation_Expert_Panel,:9aea178a-3518-4d66-ae22-80a965e9331b;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=33969373 16 68822202 599651 G A . . ALLELEID=590990;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68822202G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:79f7bb71-1142-4f73-bb7e-59866f3acbfe;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1567512585 16 68822205 532477 CCA C . . ALLELEID=530471;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68822206_68822207del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:b95580d2-6d28-4fd0-a8b8-b862f75d6cc8;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555516896 16 68822210 142826 C T . . AF_EXAC=0.00001;ALLELEID=152540;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68822210C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:a13097ce-e827-4856-9d7e-7df256027eb9;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782750 16 68822976 223658 G A . . AF_TGP=0.00240;ALLELEID=225386;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68822976G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:82e0a596-3841-4c32-92b0-f6e9e725361e;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144719031 16 68823386 140806 T C . . AF_ESP=0.09641;AF_EXAC=0.10477;AF_TGP=0.05791;ALLELEID=150520;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68823386T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:17707|ClinGen_CDH1_Variant_Curation_Expert_Panel,:84f291c3-4e16-4968-9103-5a1c820e0bf5;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2276330 16 68823404 463735 G T . . ALLELEID=466596;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68823404G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:c0b7ca7d-517c-418e-a1e3-22e57e6bd197;GENEINFO=CDH1:999;MC=SO:0001587|nonsense,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=971882211 16 68823408 463736 C CTA . . ALLELEID=466908;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68823410_68823411dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555517074 16 68823408 483276 CTA C . . ALLELEID=477914;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68823410_68823411del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555517074 16 68823440 182376 G GT . . AF_ESP=0.00008;ALLELEID=180783;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68823441dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4932936|ClinGen_CDH1_Variant_Curation_Expert_Panel,:9bd60b2e-160b-4a9e-a85c-fa63f6b6d449;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=730881653 16 68823451 573147 CA C . . ALLELEID=568245;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68823455del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1567513227 16 68823460 185252 TC T . . ALLELEID=184440;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68823461del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:3fd5710b-0fc8-4a30-8a4d-c874a269f67b;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786202033 16 68823489 483251 A AC . . ALLELEID=478479;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68823491dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:3dcec9c3-c883-4005-9bf2-745d160bcfb7;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555517100 16 68823515 133847 G A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=137586;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68823515G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d6fc4e39-65c8-4d38-a2c9-8c8594bdbc48;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=550612843 16 68823523 140781 CTG C . . ALLELEID=150495;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68823524TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_15913_605|ClinGen_CDH1_Variant_Curation_Expert_Panel,:3f59f180-03c4-40bf-8632-9084331cc8d5|Invitae:828589;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=587781276 16 68823537 1292056 CTG C . . ALLELEID=231978;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68823538_68823539del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876661133 16 68823538 142770 T C . . AF_ESP=0.71614;AF_EXAC=0.65481;AF_TGP=0.71865;ALLELEID=152484;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054740,MedGen:C4551988,OMIM:119580|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Blepharocheilodontic_syndrome_1|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68823538T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:7147ec7b-30b2-419d-9646-4283a89cbe74|Illumina_Laboratory_Services,Illumina:17641|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17772;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1801552 16 68823538 220300 TG CA . . ALLELEID=222523;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68823538_68823539inv;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Inversion;CLNVCSO=SO:1000036;CLNVI=Invitae:273354;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1 16 68823557 12237 C T . . ALLELEID=27276;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68823557C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:463b9475-4679-47b2-818c-b303ef0a0174|OMIM_Allelic_Variant:192090.0007;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=121964874 16 68823561 492677 CT C . . ALLELEID=485666;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68823562del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:71001505-c352-40be-b876-0a9c4bd2ef36;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555517136 16 68823566 127921 G A . . AF_ESP=0.00069;AF_EXAC=0.00021;ALLELEID=133378;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68823566G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:89edf24d-5117-4ff9-8e40-1aad098773dd|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2334480;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149127230 16 68823566 463743 G T . . ALLELEID=466923;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68823566G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:1e9c8c1e-8248-4763-8eef-4cef9f5b2dcd;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=149127230 16 68823593 12231 C G . . ALLELEID=27270;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68823593C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:57c42482-7dfe-418f-9374-f3562e757ad4|OMIM_Allelic_Variant:192090.0001|UniProtKB_(protein):P12830#VAR_001321;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121964871 16 68823604 491520 TG T . . ALLELEID=484939;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68823606del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555517153 16 68823623 599652 C G . . ALLELEID=590991;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68823623C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:fc7868d5-8f10-4e93-9838-9697956e06a6;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1567513504 16 68823627 420613 G GT . . ALLELEID=409707;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|not_specified;CLNHGVS=NC_000016.10:g.68823628dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:5e1dc93f-f7ea-4967-82a2-df8d41d56da2;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1555517160 16 68823628 234613 T C . . ALLELEID=231979;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68823628T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=876661120 16 68823641 259292 C CA . . ALLELEID=255855;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000016.10:g.68823643dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:36d4a3ca-4d22-4d12-a8ff-fb56051b625d|Illumina_Laboratory_Services,Illumina:497242;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34939176 16 68828173 532459 G C . . ALLELEID=530483;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68828173G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1385720097 16 68828204 406663 G A . . ALLELEID=402094;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68828204G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:0b968ecb-5432-4588-a812-7dd328f2b93d;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060501244 16 68828254 418841 C T . . AF_EXAC=0.00001;ALLELEID=409709;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68828254C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846009|ClinGen_CDH1_Variant_Curation_Expert_Panel,:c46e3e12-7172-498b-86a7-d9cd9f01bbee;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776975632 16 68828262 142145 C T . . AF_ESP=0.03755;AF_EXAC=0.03955;AF_TGP=0.05451;ALLELEID=151859;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68828262C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:68979|ClinGen_CDH1_Variant_Curation_Expert_Panel,:d4fc3027-83dc-4710-bfde-83d2dd1e1f28|Illumina_Laboratory_Services,Illumina:68796;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=33964119 16 68828274 599653 T A . . ALLELEID=590992;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68828274T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:2efeb055-c565-494f-8e8d-5ae0dccaa3e7;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=876658944 16 68828281 532441 G T . . ALLELEID=530170;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68828281G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:5192e01b-3541-4d0d-b286-c2f8acf4043f;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=786202785 16 68828283 545738 AG A . . ALLELEID=536475;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68828285del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:27960db8-8bc9-417a-9eb5-1034223f1b1c;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555517680 16 68828290 406676 G A . . AF_EXAC=0.00002;ALLELEID=401307;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68828290G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:4a2d51fa-2fa9-42d8-828f-9a40df2ae757;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779648243 16 68828296 136065 G T . . ALLELEID=139777;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68828296G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851859|ClinGen_CDH1_Variant_Curation_Expert_Panel,:a37a7b3b-eda4-4ed2-8848-63a6ca3f3aa5;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=587780787 16 68828302 230451 C T . . ALLELEID=235460;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68828302C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d4d80a05-4db4-4643-877f-10dbb705c844;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=876658575 16 68828470 223655 C T . . AF_TGP=0.00300;ALLELEID=225383;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68828470C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:03dc79c9-f66c-493a-86de-1b80c36ebdbd;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143044978 16 68829652 233417 A G . . ALLELEID=235461;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68829652A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=876660393 16 68829653 371806 G A . . ALLELEID=358917;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68829653G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1057517542 16 68829669 428624 C T . . ALLELEID=420605;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68829669C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:a900acc8-7a69-4034-a12b-01fa5d64d142;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=1131690813 16 68829678 406669 AG A . . ALLELEID=402101;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68829682del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1052699|ClinGen_CDH1_Variant_Curation_Expert_Panel,:07bc6bc1-21bc-476e-bab1-e1fc34001d34;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060501248 16 68829687 127922 G A . . AF_ESP=0.00008;AF_EXAC=0.00013;ALLELEID=133379;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000016.10:g.68829687G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P12830#VAR_033027;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372989292 16 68829701 127923 A T . . AF_EXAC=0.00001;ALLELEID=133380;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68829701A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829703|ClinGen_CDH1_Variant_Curation_Expert_Panel,:a111a578-1fc8-4793-9f23-269d537cd6a8;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=9;RS=587780119 16 68829739 12236 T TC . . ALLELEID=27275;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68829744dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:690b78a0-7ef7-4105-9b06-180bff60cf0c|OMIM_Allelic_Variant:192090.0006;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1375617541 16 68829752 156497 TC T . . ALLELEID=166262;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68829756del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:882220|ClinGen_CDH1_Variant_Curation_Expert_Panel,:a4959b72-3cf7-4e15-96c5-b96fd19dd327;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587783048 16 68829754 140871 C G . . ALLELEID=150585;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000016.10:g.68829754C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_296|ClinGen_CDH1_Variant_Curation_Expert_Panel,:adcfd805-c238-4e80-b9ad-f6fa541ab04d;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781335 16 68829757 142363 G A . . AF_ESP=0.00008;ALLELEID=152077;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68829757G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:df17608e-32cd-47b7-8dab-62c2935b5bbe;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370345996 16 68829771 127925 G A . . AF_ESP=0.00031;AF_EXAC=0.00022;ALLELEID=133382;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000016.10:g.68829771G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:809303|ClinGen_CDH1_Variant_Curation_Expert_Panel,:8f3f955a-56d1-4528-83ec-f23b19eb3126|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2567743;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200894246 16 68829784 187464 AT A . . ALLELEID=184466;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68829788del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:152583|ClinGen_CDH1_Variant_Curation_Expert_Panel,:9eee2198-3726-4f14-81e7-c8c62c01506a;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786203752 16 68829819 259293 C T . . AF_ESP=0.00369;AF_EXAC=0.00099;AF_TGP=0.00260;ALLELEID=255856;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN169374;CLNDN=Hereditary_diffuse_gastric_cancer|not_specified;CLNHGVS=NC_000016.10:g.68829819C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:cae966bb-09fc-42e2-afa9-87358bd5f675;GENEINFO=CDH1:999;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34751606 16 68833288 496817 A G . . ALLELEID=488241;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000016.10:g.68833288A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d267b99c-f366-4e90-91ca-7e4ac610cf6f|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846006;GENEINFO=CDH1:999;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1555518210 16 68833296 496818 A T . . ALLELEID=488242;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68833296A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:1c8a70db-00a5-46ce-b1a3-4a18a909c3cf;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555518211 16 68833301 183842 G A . . AF_ESP=0.00015;AF_EXAC=0.00007;ALLELEID=184467;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000016.10:g.68833301G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:20f73f9f-5a02-4ed6-855f-69e4e63e0e22|Illumina_Laboratory_Services,Illumina:805706;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149450874 16 68833339 428634 T TG . . ALLELEID=420606;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68833340dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1131690822 16 68833344 12246 G A . . AF_TGP=0.00040;ALLELEID=27285;CLNDISDB=Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356,SNOMED_CT:126824007|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Neoplasm_of_stomach|Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68833344G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:fa3b9647-d4d2-4091-8d83-e4e2f0f16391|UniProtKB_(protein):P12830#VAR_023358|OMIM_Allelic_Variant:192090.0017|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2690544|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_667;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35572355 16 68833354 481173 A ATG . . ALLELEID=477852;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68833355_68833356dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9221784c-01b8-448f-9716-33b57bc4c7f0;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555518236 16 68833356 479504 G T . . ALLELEID=477938;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68833356G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:1a5e5e0d-db23-4e6c-a7f2-002891504b0f;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555518239 16 68833362 12233 A G . . AF_EXAC=0.00003;ALLELEID=27272;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68833362A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:85364a5d-816a-4c65-a3f3-29c77698b3b9|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_629|UniProtKB_(protein):P12830#VAR_001322|OMIM_Allelic_Variant:192090.0003|Illumina_Laboratory_Services,Illumina:821912;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121964872 16 68833375 981224 CT C . . ALLELEID=969308;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68833376del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:b361f4f7-29de-4a4a-99e2-94bafeac6f4f;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1961538047 16 68833397 234904 C CA . . ALLELEID=231983;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_provided;CLNHGVS=NC_000016.10:g.68833397_68833398insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:bbd057d3-ccf7-434b-bc14-d9985ed8087a;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876661286 16 68833398 141951 TCC T . . ALLELEID=151665;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68833399_68833400del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d170d032-2b2a-4b4c-930b-07c0d30139ca;GENEINFO=CDH1:999;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587782135 16 68833444 496819 G A . . ALLELEID=488243;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000016.10:g.68833444G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:da58d938-ba22-4e68-bea6-d7a3b508312b;GENEINFO=CDH1:999;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555518270 16 68833484 142632 C T . . AF_ESP=0.01901;AF_EXAC=0.00963;AF_TGP=0.01777;ALLELEID=152346;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68833484C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:159276|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:26796|ClinGen_CDH1_Variant_Curation_Expert_Panel,:8a38f92d-efba-4500-80d9-8bdb40181350;GENEINFO=CDH1:999;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2229044 16 68833485 127928 G A . . AF_ESP=0.00015;ALLELEID=133385;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Hereditary_diffuse_gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000016.10:g.68833485G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:86a85614-4966-4b5e-9e92-5bcb810ab482|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2557370|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1234;GENEINFO=CDH1:999;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200911775 16 68833553 320267 C T . . AF_TGP=0.15455;ALLELEID=342198;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_diffuse_gastric_cancer|not_specified|none_provided|not_provided;CLNHGVS=NC_000016.10:g.68833553C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17776|Illumina_Laboratory_Services,Illumina:17732|ClinGen_CDH1_Variant_Curation_Expert_Panel,:47af9634-20d9-4b17-8249-85078571c693;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1801026 16 68833909 320277 A T . . AF_TGP=0.01597;ALLELEID=335840;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68833909A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:449715|ClinGen_CDH1_Variant_Curation_Expert_Panel,:67aaff1f-5a34-40fd-aae1-64d270f460b6;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=33956133 16 68834088 320281 C T . . AF_TGP=0.10304;ALLELEID=326168;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68834088C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:c771ae7f-a11a-4031-bd37-9856313ffb11|Illumina_Laboratory_Services,Illumina:62700;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=8049282 16 68834120 320283 C T . . AF_TGP=0.02097;ALLELEID=343752;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68834120C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:159293|ClinGen_CDH1_Variant_Curation_Expert_Panel,:1148be3d-19d9-4ce5-add4-a10ce2f6206e;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=33956791 16 68834273 320286 A G . . AF_EXAC=0.00880;AF_TGP=0.00479;ALLELEID=326171;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68834273A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:731449|ClinGen_CDH1_Variant_Curation_Expert_Panel,:949f432f-33a6-47b6-8c55-4d04980a3494;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=549231645 16 68834487 320288 G A . . AF_TGP=0.00639;ALLELEID=326174;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68834487G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:1eaffa19-0fe7-4568-9d8f-85694e4132a0|Illumina_Laboratory_Services,Illumina:673019;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=9282653 16 68834619 320291 T C . . AF_TGP=0.15136;ALLELEID=342207;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68834619T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:fa98b5d0-1c05-4a83-8e02-8dbb1a7d632f|Illumina_Laboratory_Services,Illumina:17741;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=13689 16 68834675 320292 T G . . AF_TGP=0.01597;ALLELEID=343756;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68834675T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:493abd91-c241-48d5-94df-8d6a77b5b0dc|Illumina_Laboratory_Services,Illumina:770621;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=9282654 16 68835161 320296 G C . . AF_TGP=0.00459;ALLELEID=335853;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68835161G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:9b636558-64dc-4141-8fe1-9d617a18f453|Illumina_Laboratory_Services,Illumina:618508;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=33967108 16 68835190 320297 G T . . AF_TGP=0.00359;ALLELEID=343762;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68835190G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:dbbdab88-385b-48ce-864f-2eff098f6b48|Illumina_Laboratory_Services,Illumina:490159;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=373181046 16 68835334 320299 T C . . AF_TGP=0.00659;ALLELEID=343763;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68835334T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:117973|ClinGen_CDH1_Variant_Curation_Expert_Panel,:174971f5-f320-4857-8af8-9d64ec90684e;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=13339481 16 68835372 320301 G A . . AF_TGP=0.01657;ALLELEID=343769;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68835372G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:765320|ClinGen_CDH1_Variant_Curation_Expert_Panel,:30ddac4d-3c38-493a-b339-f024df7c9231;GENEINFO=CDH1:999;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=35779350 16 68835546 369122 A G . . AF_TGP=0.99481;ALLELEID=353351;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68835546A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:d94025ca-e4c4-4680-8522-b8cb95e56122;GENEINFO=CDH1:999;ORIGIN=1;RS=8045438 16 68835549 369123 T A . . AF_TGP=0.00779;ALLELEID=353352;CLNDISDB=MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:ORPHA26106;CLNDN=Hereditary_diffuse_gastric_cancer;CLNHGVS=NC_000016.10:g.68835549T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_CDH1_Variant_Curation_Expert_Panel,:ddb480c9-c7cc-4b38-b76f-2b869dc6b283;GENEINFO=CDH1:999;ORIGIN=1;RS=181705992 17 7669628 141425 T G . . ALLELEID=151139;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7669628T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:4ef47921-0407-4ece-a6d2-91823363a565;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=587781736 17 7669640 406575 A G . . ALLELEID=402994;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7669640A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851999;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1060501196 17 7669641 182939 T C . . ALLELEID=180986;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7669641T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:dd48c400-334d-4397-a13e-9b192453e234;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=730882009 17 7669655 216463 C A . . ALLELEID=213384;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7669655C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:f9be9559-1beb-43e6-a8cf-9eefdd968ba4;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=863224682 17 7669655 246221 C T . . ALLELEID=245067;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7669655C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045572;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=863224682 17 7669656 186762 G T . . ALLELEID=185334;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7669656G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:ec12077e-ef5b-47b0-9426-2498d4b97853;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=749061599 17 7669671 230269 C G . . ALLELEID=236436;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7669671C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:3cfae801-62ea-44b2-a4e9-c7993942151c;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=587781858 17 7669689 188342 G A . . ALLELEID=186272;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7669689G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:df7ff2a6-8eee-4415-9d93-3b8300c33fbb;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=786204227 17 7670613 135360 A C . . AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=139099;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.7670613A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_022317|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:31191c76-8849-45a1-8fdf-bfb7d0098021;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=17881470 17 7670616 80708 G A . . AF_EXAC=0.00001;ALLELEID=91599;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7670616G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:905041|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:9285e818-17ae-4db4-83fa-16f6628f6cd6|UniProtKB_(protein):P04637#VAR_045568;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=267605075 17 7670630 142003 C G . . AF_ESP=0.00031;AF_TGP=0.00020;ALLELEID=151717;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7670630C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045562|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:69d5e5bf-2cb9-4c24-b1ee-e092cce3c5d6;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=35993958 17 7670643 234059 C G . . AF_EXAC=0.00001;ALLELEID=236443;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7670643C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=766786605 17 7670649 231485 G T . . AF_EXAC=0.00003;ALLELEID=236444;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375|Human_Phenotype_Ontology:HP:0200063,MONDO:MONDO:0021392,MedGen:C0949059|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374;CLNDN=Li-Fraumeni_syndrome_1|Colonic_neoplasm|Colorectal_polyposis|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified;CLNHGVS=NC_000017.11:g.7670649G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045557;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=755394212 17 7670669 43587 G T . . ALLELEID=52756;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7670669G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:d4905d59-9322-441b-9ed0-ea2304d97a65;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397516434 17 7670678 12375 A G . . ALLELEID=27414;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7670678A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045546|OMIM_Allelic_Variant:191170.0031|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:7b4332f9-03a6-43f1-afde-508d91bd92d5;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=121912662 17 7670684 233136 C T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=236445;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7670684C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_047213;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=375338359 17 7670694 141893 C G . . ALLELEID=151607;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7670694C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045541|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:45b695a1-6c52-483f-96cd-093976098264;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=17882252 17 7670700 1019612 G T . . ALLELEID=1013144;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7670700G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:94981547-1bc0-489e-8b9a-b5963be2d6de;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=587782529 17 7670706 141159 G A . . AF_ESP=0.00008;ALLELEID=150873;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7670706G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:2c051651-783e-433a-913d-2201e71b6cb7;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=375444154 17 7670709 182969 C G . . AF_EXAC=0.00001;ALLELEID=180990;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7670709C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:92e57f24-9a2a-4d40-9b02-5284485e54b9;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=730882028 17 7670711 142273 C T . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=151987;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7670711C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:d8de06fc-22f0-4978-9c21-a8d7b365d2c9;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=573154688 17 7670712 184745 G A . . ALLELEID=185338;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7670712G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:4bdb59d3-0848-40a4-91d8-1adc8f8effef;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=17;RS=769934890 17 7673533 428898 AC A . . ALLELEID=420638;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7673535del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:a608c703-2232-4c79-86dd-00844776434d;GENEINFO=TP53:7157;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1131691033 17 7673579 231008 G T . . AF_EXAC=0.00002;ALLELEID=236450;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673579G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045500;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764735889 17 7673582 230382 G T . . AF_EXAC=0.00001;ALLELEID=236451;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673582G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045498;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=772773208 17 7673585 185212 A T . . AF_EXAC=0.00001;ALLELEID=185339;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified;CLNHGVS=NC_000017.11:g.7673585A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:5193a588-32d8-40ff-a27b-172881bdd1f0;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762620193 17 7673593 141102 G C . . AF_ESP=0.00015;AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=150816;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7673593G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829895|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:c3655e4d-7f5e-4830-b702-3893ec9be6ac|Illumina_Laboratory_Services,Illumina:767953|UniProtKB_(protein):P04637#VAR_045488;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145151284 17 7673700 633606 C T . . ALLELEID=622038;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673700C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:e5597807-7124-425a-b33a-5c6af85c5edc|MutSpliceDB:_a_database_of_splice_sites_variants_effects_on_splicing,NIH:CA397836247;GENEINFO=TP53:7157;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=1131691039 17 7673713 142332 T C . . ALLELEID=152046;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673713T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843898|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:481b1f30-a3cc-4e41-8fac-e657737c7811;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587782391 17 7673728 93323 C A . . ALLELEID=99230;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Neoplasm_of_ovary|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673728C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:42caf4f2-7ef5-45d4-a593-271e92b9ca88|HGMD:CM031387;GENEINFO=TP53:7157;MC=SO:0001587|nonsense;ORIGIN=3;RS=201744589 17 7673728 141483 C T . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=151197;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Carcinoma_of_colon|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673728C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852668|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:8fb68094-5560-49d6-a48b-2a63d4e67265|UniProtKB_(protein):P04637#VAR_045448;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201744589 17 7673734 132973 G A . . ALLELEID=136722;CLNDISDB=Human_Phenotype_Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Sarcoma|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673734G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:fd1fd761-b5ce-4519-9c0a-a4688f12b30b|UniProtKB_(protein):P04637#VAR_045440;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=672601296 17 7673737 428862 G A . . ALLELEID=420643;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7673737G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:76e4a955-af29-4437-9e32-387b300c80d4;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1131691006 17 7673743 127826 C A . . ALLELEID=133283;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673743C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045426|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:fcf81c41-2ef5-4155-8668-25fc599a1d42;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587780076 17 7673745 406577 T C . . ALLELEID=403145;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7673745T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121912663 17 7673751 127825 C T . . AF_ESP=0.00031;AF_EXAC=0.00016;AF_TGP=0.00020;ALLELEID=133282;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016248,MedGen:CN201036,Orphanet:ORPHA213517|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Familial_ovarian_cancer|Li-Fraumeni_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.7673751C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045411|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2687954|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:de5ede53-7b6d-40ad-8a0e-0b3aa4c7ecd8;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55819519 17 7673752 216472 G A . . AF_EXAC=0.00002;ALLELEID=213390;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673752G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045410;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770374782 17 7673754 1172923 A G . . ALLELEID=1162106;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623;CLNDN=Li-Fraumeni_syndrome_1;CLNHGVS=NC_000017.11:g.7673754A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:6dab48cd-422d-4d98-9cea-3e99b23c6a4b;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1 17 7673769 216471 G A . . ALLELEID=213391;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673769G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045390;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=863224685 17 7673773 127824 G A . . AF_ESP=0.00038;ALLELEID=133281;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356,SNOMED_CT:126824007|Human_Phenotype_Ontology:HP:0200022,MONDO:MONDO:0009837,MedGen:C0205770,OMIM:260500,Orphanet:ORPHA2807,SNOMED_CT:18021007|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0002629,MeSH:D012516,MedGen:C0585442,OMIM:259500,Orphanet:ORPHA668|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300|MONDO:MONDO:0013876,MedGen:C3553606,OMIM:614740|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:ORPHA150|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hepatocellular_carcinoma|Neoplasm_of_stomach|Choroid_plexus_papilloma|Carcinoma_of_colon|Bone_osteosarcoma|Carcinoma_of_pancreas|Malignant_tumor_of_breast|Adrenocortical_carcinoma,_hereditary|Basal_cell_carcinoma,_susceptibility_to,_7|Hereditary_cancer-predisposing_syndrome|Nasopharyngeal_carcinoma|Familial_cancer_of_breast|Li-Fraumeni_syndrome|Glioma_susceptibility_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7673773G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842501|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_15187_605|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_1201|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:0b9a7a17-b7b8-4223-bd64-69617a2d691d|UniProtKB_(protein):P04637#VAR_006017;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149633775 17 7673775 182938 C A . . ALLELEID=180994;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673775C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:8099c951-8c94-4ef5-9f48-ba68e4b64b16|UniProtKB_(protein):P04637#VAR_006015;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730882008 17 7673802 12366 C T . . AF_TGP=0.00020;ALLELEID=27405;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0002889,Human_Phenotype_Ontology:HP:0006744,Human_Phenotype_Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0011779,MONDO:MONDO:0006468,MedGen:C0238461,Orphanet:ORPHA142|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|Human_Phenotype_Ontology:HP:0200022,MONDO:MONDO:0009837,MedGen:C0205770,OMIM:260500,Orphanet:ORPHA2807,SNOMED_CT:18021007|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0002629,MeSH:D012516,MedGen:C0585442,OMIM:259500,Orphanet:ORPHA668|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0013876,MedGen:C3553606,OMIM:614740|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:ORPHA150|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|MedGen:C0153574|MedGen:CN235283|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hepatocellular_carcinoma|Acute_myeloid_leukemia|Neoplasm|Rhabdomyosarcoma|Medulloblastoma|Adrenocortical_carcinoma|B-cell_chronic_lymphocytic_leukemia|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Thyroid_gland_undifferentiated_(anaplastic)_carcinoma|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Choroid_plexus_papilloma|Carcinoma_of_colon|Bone_osteosarcoma|Adenocarcinoma_of_prostate|Carcinoma_of_pancreas|Malignant_Colorectal_Neoplasm|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Malignant_tumor_of_breast|Adrenocortical_carcinoma,_hereditary|Squamous_cell_carcinoma_of_the_head_and_neck|Basal_cell_carcinoma,_susceptibility_to,_7|Hereditary_cancer-predisposing_syndrome|Nasopharyngeal_carcinoma|Familial_cancer_of_breast|Glioblastoma|Li-Fraumeni_syndrome|Glioma_susceptibility_1|Malignant_neoplasm_of_body_of_uterus|none_provided|not_provided;CLNHGVS=NC_000017.11:g.7673802C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:8d32df42-16ac-41f2-9bf1-e2b9ce206190|UniProtKB_(protein):P04637#VAR_005995|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:14505|OMIM_Allelic_Variant:191170.0020;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=28934576 17 7673806 185814 C T . . AF_EXAC=0.00003;ALLELEID=185350;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006739,Human_Phenotype_Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:C0153574;CLNDN=Li-Fraumeni_syndrome_1|Medulloblastoma|Pancreatic_adenocarcinoma|Squamous_cell_carcinoma_of_the_skin|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Breast_neoplasm|Renal_cell_carcinoma,_papillary,_1|Lung_adenocarcinoma|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Ovarian_Serous_Cystadenocarcinoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|Malignant_neoplasm_of_body_of_uterus;CLNHGVS=NC_000017.11:g.7673806C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045354|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:f3006a48-5b31-4ef1-8f3d-575a86c78f1b;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121912657 17 7673820 127823 C T . . AF_EXAC=0.00002;ALLELEID=133280;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7673820C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:ca16e21b-853c-433e-88e5-601b2de6c525|UniProtKB_(protein):P04637#VAR_045330;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587780075 17 7673836 141228 C T . . ALLELEID=150942;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7673836C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045308|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_15457_606|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:8466fc33-68c8-4faa-b8de-23f1b6417e6d;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200579969 17 7674184 231033 G T . . ALLELEID=236465;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7674184G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045301;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876658916 17 7674203 406605 T C . . AF_EXAC=0.00001;ALLELEID=402557;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0200022,MONDO:MONDO:0009837,MedGen:C0205770,OMIM:260500,Orphanet:ORPHA2807,SNOMED_CT:18021007|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0002629,MeSH:D012516,MedGen:C0585442,OMIM:259500,Orphanet:ORPHA668|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300|MONDO:MONDO:0013876,MedGen:C3553606,OMIM:614740|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:ORPHA150|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hepatocellular_carcinoma|Choroid_plexus_papilloma|Carcinoma_of_colon|Bone_osteosarcoma|Carcinoma_of_pancreas|Adrenocortical_carcinoma,_hereditary|Basal_cell_carcinoma,_susceptibility_to,_7|Hereditary_cancer-predisposing_syndrome|Nasopharyngeal_carcinoma|Familial_cancer_of_breast|Li-Fraumeni_syndrome|Glioma_susceptibility_1|not_provided;CLNHGVS=NC_000017.11:g.7674203T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746601313 17 7674220 230253 C A . . ALLELEID=236469;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006739,Human_Phenotype_Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MedGen:C0153574;CLNDN=Hepatocellular_carcinoma|Acute_myeloid_leukemia|Medulloblastoma|B-cell_chronic_lymphocytic_leukemia|Pancreatic_adenocarcinoma|Squamous_cell_carcinoma_of_the_skin|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Glioblastoma|Li-Fraumeni_syndrome|Myelodysplastic_syndrome|Malignant_neoplasm_of_body_of_uterus;CLNHGVS=NC_000017.11:g.7674220C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_005982|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:291eceb4-ecb0-489a-b637-b9ff4f5f34d5;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=11540652 17 7674220 12356 C T . . AF_EXAC=0.00006;ALLELEID=27395;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:ORPHA223735|Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006739,Human_Phenotype_Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030075,MedGen:C0007124|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|Human_Phenotype_Ontology:HP:0200022,MONDO:MONDO:0009837,MedGen:C0205770,OMIM:260500,Orphanet:ORPHA2807,SNOMED_CT:18021007|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0002629,MeSH:D012516,MedGen:C0585442,OMIM:259500,Orphanet:ORPHA668|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0013876,MedGen:C3553606,OMIM:614740|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:ORPHA150|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|MedGen:C0153574|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hepatocellular_carcinoma|Acute_myeloid_leukemia|Neoplasm|Lymphoma|Rhabdomyosarcoma|Medulloblastoma|Breast_carcinoma|B-cell_chronic_lymphocytic_leukemia|Pancreatic_adenocarcinoma|Squamous_cell_carcinoma_of_the_skin|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Malignant_melanoma_of_skin|Ductal_carcinoma_in_situ|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Sarcoma|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Choroid_plexus_papilloma|Carcinoma_of_colon|Bone_osteosarcoma|Adenocarcinoma_of_prostate|Carcinoma_of_pancreas|Malignant_Colorectal_Neoplasm|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Adrenocortical_carcinoma,_hereditary|Squamous_cell_carcinoma_of_the_head_and_neck|Basal_cell_carcinoma,_susceptibility_to,_7|Hereditary_cancer-predisposing_syndrome|Nasopharyngeal_carcinoma|Familial_cancer_of_breast|Glioblastoma|Li-Fraumeni_syndrome|Myelodysplastic_syndrome|Lip_and_oral_cavity_carcinoma|Glioma_susceptibility_1|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000017.11:g.7674220C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:cf887752-8539-4177-a74d-dc5c8f8a36ed|OMIM_Allelic_Variant:191170.0010|UniProtKB_(protein):P04637#VAR_005983|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2348245;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=51;RS=11540652 17 7674221 12347 G A . . AF_EXAC=0.00001;ALLELEID=27386;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0000157,MedGen:C0878638|Human_Phenotype_Ontology:HP:0000465,MedGen:C0221217|Human_Phenotype_Ontology:HP:0000767,Human_Phenotype_Ontology:HP:0006613,Human_Phenotype_Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588|Human_Phenotype_Ontology:HP:0001876,MONDO:MONDO:0001529,MedGen:C0030312|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656|Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006739,Human_Phenotype_Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:ORPHA251899|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688|MONDO:MONDO:0023644,MedGen:C0220641|MedGen:C0153574|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Abnormality_of_the_tongue|Webbed_neck|Pectus_excavatum|Hepatocellular_carcinoma|Short_stature|Pancytopenia|Acute_myeloid_leukemia|Cognitive_impairment|Neoplasm|Medulloblastoma|B-cell_chronic_lymphocytic_leukemia|Pancreatic_adenocarcinoma|Squamous_cell_carcinoma_of_the_skin|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Choroid_plexus_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Gallbladder_cancer|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Glioblastoma|Li-Fraumeni_syndrome|Myelodysplastic_syndrome|Lip_and_oral_cavity_carcinoma|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000017.11:g.7674221G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:55c3283e-f0f6-4e18-b837-99a275ea7d90|OMIM_Allelic_Variant:191170.0001|UniProtKB_(protein):P04637#VAR_005984;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121912651 17 7674230 12365 C T . . AF_EXAC=0.00001;ALLELEID=27404;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651,SNOMED_CT:108369006|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0004970,MedGen:C0001418|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016248,MedGen:CN201036,Orphanet:ORPHA213517|MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:ORPHA251589,SNOMED_CT:55353007|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0020560,MedGen:C1266184,Orphanet:ORPHA99966|MedGen:C2675080|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hepatocellular_carcinoma|Neoplasm|Breast_carcinoma|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Lung_adenocarcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Adenocarcinoma|Adenocarcinoma_of_prostate|Malignant_Colorectal_Neoplasm|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Familial_ovarian_cancer|Astrocytoma,_anaplastic|Glioblastoma|Li-Fraumeni_syndrome|Atypical_teratoid/rhabdoid_tumor|Li-Fraumeni-like_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7674230C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM920674|UniProtKB_(protein):P04637#VAR_005974|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:ed201831-1d8d-4c6d-ad13-1055f8d3407b|OMIM_Allelic_Variant:191170.0019;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=11;RS=28934575 17 7674252 142714 C T . . AF_EXAC=0.00001;ALLELEID=152428;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:C0153574|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Pancreatic_adenocarcinoma|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Lung_adenocarcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Ovarian_Serous_Cystadenocarcinoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|Malignant_neoplasm_of_body_of_uterus|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.7674252C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:98acfed4-de66-4a8c-b6ba-bc9a67cd4189|UniProtKB_(protein):P04637#VAR_005965;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=587782664 17 7674259 127821 T C . . AF_ESP=0.00015;AF_EXAC=0.00024;ALLELEID=133278;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Rhabdomyosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Li-Fraumeni_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.7674259T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:38d9dfad-aa7b-409a-9fd8-3f6898fb8c57|UniProtKB_(protein):P04637#VAR_045186;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144340710 17 7674295 230648 G C . . ALLELEID=236472;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7674295G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001627|intron_variant;ORIGIN=1;RS=876658684 17 7674872 127819 T C . . AF_EXAC=0.00003;ALLELEID=133276;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MeSH:C538614,MedGen:C1336078|MedGen:C0153574|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hepatocellular_carcinoma|Acute_myeloid_leukemia|Breast_carcinoma|B-cell_chronic_lymphocytic_leukemia|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Breast_neoplasm|Renal_cell_carcinoma,_papillary,_1|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Glioblastoma|Li-Fraumeni_syndrome|Papillary_renal_cell_carcinoma,_sporadic|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000017.11:g.7674872T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:4795612b-c5d2-4229-a5ec-172fedfbcf55|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847466|UniProtKB_(protein):P04637#VAR_005957;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121912666 17 7674890 376615 T C . . ALLELEID=363494;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hepatocellular_carcinoma|B-cell_chronic_lymphocytic_leukemia|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Carcinoma_of_esophagus|Renal_cell_carcinoma,_papillary,_1|Squamous_cell_lung_carcinoma|Adenocarcinoma_of_stomach|Neoplasm_of_the_large_intestine|Ovarian_Serous_Cystadenocarcinoma|Hereditary_cancer-predisposing_syndrome|Glioblastoma|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7674890T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:b36419d2-274a-4464-b4c9-c0ff2471c0d9;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1057519992 17 7674894 218342 GA G . . ALLELEID=215053;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0018872,MeSH:D007947,MedGen:C0023462,Orphanet:ORPHA518|MONDO:MONDO:0021067,MedGen:C1334655|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Acute_megakaryoblastic_leukemia|Mediastinal_germ_cell_tumor|not_provided;CLNHGVS=NC_000017.11:g.7674898del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:43ea40bf-abe3-4125-8861-85030e6c815c;GENEINFO=TP53:7157;MC=SO:0001589|frameshift_variant;ORIGIN=3;RS=864309495 17 7674924 182933 C T . . ALLELEID=181006;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7674924C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_045039|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:9b41bbda-7cef-4743-ad3c-44269b286714;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730882003 17 7674953 376612 T G . . ALLELEID=363491;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MeSH:C538614,MedGen:C1336078|MedGen:C0153574;CLNDN=Hepatocellular_carcinoma|Acute_myeloid_leukemia|B-cell_chronic_lymphocytic_leukemia|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|Papillary_renal_cell_carcinoma,_sporadic|Malignant_neoplasm_of_body_of_uterus;CLNHGVS=NC_000017.11:g.7674953T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:b7079914-1dfb-4bb9-8f67-f466a0532ac1;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=786201838 17 7674959 127816 G C . . AF_EXAC=0.00002;ALLELEID=133273;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7674959G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044986|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:dd649552-60d0-4411-92ac-361dc7acac10;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587778718 17 7674962 418517 G A . . ALLELEID=410268;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7674962G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:0a1d958f-f7f2-4507-b3b9-11e245172c89;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876660825 17 7675056 406601 C T . . ALLELEID=402562;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675056C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060501206 17 7675058 141359 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=151073;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675058C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:1febb627-e7ab-467a-9101-1ee37ceccf6a|UniProtKB_(protein):P04637#VAR_044961;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150607408 17 7675071 230764 G T . . ALLELEID=236486;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675071G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:dc88e22c-bbbf-4aeb-9c2a-0e3babeaaeed|UniProtKB_(protein):P04637#VAR_044950;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587782596 17 7675074 245711 C T . . ALLELEID=245073;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675074C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044943|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:63dea6d6-388c-4d5b-a692-7a92656a24d8;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=879253911 17 7675075 406578 A T . . ALLELEID=402563;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Neoplasm_of_ovary|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675075A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:2f0057b7-4b8d-4b05-98bd-c7760ee4259c;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=876660821 17 7675080 482223 G C . . ALLELEID=480057;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675080G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:a1e9d7d7-42fc-4628-a8f2-f372d4d051d1;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064795203 17 7675089 245851 G A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=245074;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616|Human_Phenotype_Ontology:HP:0005550,Human_Phenotype_Ontology:HP:0006734,Human_Phenotype_Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED_CT:277473004,SNOMED_CT:51092000|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0003220,MedGen:C0235782|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:C0153574|MedGen:CN517202;CLNDN=Hepatocellular_carcinoma|Medulloblastoma|B-cell_chronic_lymphocytic_leukemia|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Nasopharyngeal_Neoplasms|Neoplasm_of_the_large_intestine|Carcinoma_of_gallbladder|Adenocarcinoma_of_prostate|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Glioblastoma|Li-Fraumeni_syndrome|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000017.11:g.7675089G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_005928|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:3699ed0e-e5f6-4457-bee4-961ef507dd2c;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=138729528 17 7675095 233951 C T . . ALLELEID=232035;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0002889,Human_Phenotype_Ontology:HP:0006744,Human_Phenotype_Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0023644,MedGen:C0220641|MedGen:C0153574|MedGen:CN517202;CLNDN=Hepatocellular_carcinoma|Adrenocortical_carcinoma|Pancreatic_adenocarcinoma|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Ovarian_Serous_Cystadenocarcinoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|Lip_and_oral_cavity_carcinoma|Malignant_neoplasm_of_body_of_uterus|not_provided;CLNHGVS=NC_000017.11:g.7675095C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:29aaaea7-f2a2-441a-911c-111485dd6b50|UniProtKB_(protein):P04637#VAR_005926;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=876660754 17 7675101 141566 C T . . ALLELEID=151280;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675101C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044902|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:39a0504e-27a8-472f-946e-2df10c631aeb;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781845 17 7675103 184014 G A . . AF_EXAC=0.00008;ALLELEID=185374;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675103G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:f2fc6a36-08b0-4d07-83a2-f60e3aed090e|UniProtKB_(protein):P04637#VAR_005921;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779000871 17 7675124 127814 T C . . ALLELEID=133271;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hepatocellular_carcinoma|Pancreatic_adenocarcinoma|Breast_neoplasm|Brainstem_glioma|Carcinoma_of_esophagus|Malignant_melanoma_of_skin|Lung_adenocarcinoma|Small_cell_lung_carcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675124T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:8a807387-daa0-4fb9-86e1-7e5ad3d1217f|UniProtKB_(protein):P04637#VAR_033035;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=3;RS=148924904 17 7675124 973858 TAGATGG T . . ALLELEID=962183;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675125_7675130del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:04670dbf-dcc3-4cec-8727-691d183eec54;GENEINFO=TP53:7157;MC=SO:0001820|inframe_indel;ORIGIN=1;RS=2073376974 17 7675132 230758 C T . . AF_EXAC=0.00001;ALLELEID=236488;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675132C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_005908;GENEINFO=TP53:7157;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=772354334 17 7675143 185404 C T . . AF_EXAC=0.00006;ALLELEID=185377;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675143C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:e2f03976-a476-46c6-bca8-f58d4a9373f3|UniProtKB_(protein):P04637#VAR_012977;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121912654 17 7675145 127811 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=133268;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_breast_and_ovarian_cancer_syndrome|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7675145C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:ce57ae2b-139d-4e58-9f34-2bc237a4b09b|UniProtKB_(protein):P04637#VAR_044841;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=371524413 17 7675151 237950 C T . . AF_EXAC=0.00001;ALLELEID=242984;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0200022,MONDO:MONDO:0009837,MedGen:C0205770,OMIM:260500,Orphanet:ORPHA2807,SNOMED_CT:18021007|MONDO:MONDO:0002032,MedGen:C0699790,SNOMED_CT:269533000|MONDO:MONDO:0002629,MeSH:D012516,MedGen:C0585442,OMIM:259500,Orphanet:ORPHA668|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300|MONDO:MONDO:0013876,MedGen:C3553606,OMIM:614740|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:ORPHA150|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hepatocellular_carcinoma|Choroid_plexus_papilloma|Carcinoma_of_colon|Bone_osteosarcoma|Carcinoma_of_pancreas|Adrenocortical_carcinoma,_hereditary|Basal_cell_carcinoma,_susceptibility_to,_7|Hereditary_cancer-predisposing_syndrome|Nasopharyngeal_carcinoma|Familial_cancer_of_breast|Li-Fraumeni_syndrome|Glioma_susceptibility_1|not_provided;CLNHGVS=NC_000017.11:g.7675151C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044832;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=762846821 17 7675157 142766 G A . . AF_EXAC=0.00003;ALLELEID=152480;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MONDO:MONDO:0023644,MedGen:C0220641|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Li-Fraumeni_syndrome|Lip_and_oral_cavity_carcinoma|not_provided;CLNHGVS=NC_000017.11:g.7675157G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:6bf64717-7983-4329-bddb-4b28f0690106|UniProtKB_(protein):P04637#VAR_005897;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=587782705 17 7675176 186587 A C . . ALLELEID=185381;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.7675176A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:4e4e51a2-bf4a-44a4-9fb7-5d5816cdfb92|UniProtKB_(protein):P04637#VAR_044796;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=786203064 17 7675181 376647 T A . . ALLELEID=363526;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:C0153574;CLNDN=Hepatocellular_carcinoma|Transitional_cell_carcinoma_of_the_bladder|Breast_neoplasm|Lung_adenocarcinoma|Adenocarcinoma_of_stomach|Ovarian_Serous_Cystadenocarcinoma|Squamous_cell_carcinoma_of_the_head_and_neck|Li-Fraumeni_syndrome|Malignant_neoplasm_of_body_of_uterus;CLNHGVS=NC_000017.11:g.7675181T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:14f7870e-291f-4048-9e44-f21278f51581;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=786203071 17 7675184 804214 A G . . ALLELEID=792574;CLNDISDB=MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675184A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:96976462-a14e-41e1-9dc6-73aa6108c844;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555526241 17 7675209 376563 A C . . ALLELEID=363442;CLNDISDB=Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED_CT:187769009,SNOMED_CT:25370001|Human_Phenotype_Ontology:HP:0002889,Human_Phenotype_Ontology:HP:0006744,Human_Phenotype_Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Hepatocellular_carcinoma|Adrenocortical_carcinoma|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Breast_neoplasm|Carcinoma_of_esophagus|Lung_adenocarcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Adenocarcinoma_of_stomach|Neoplasm_of_ovary|Neoplasm_of_the_large_intestine|Adenocarcinoma_of_prostate|Ovarian_Serous_Cystadenocarcinoma|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675209A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:c4a27155-9f6f-4586-8a08-70b96d281243;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=1057519975 17 7675216 376624 C G . . ALLELEID=363503;CLNDISDB=Human_Phenotype_Ontology:HP:0002889,Human_Phenotype_Ontology:HP:0006744,Human_Phenotype_Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686|Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human_Phenotype_Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED_CT:109989006,SNOMED_CT:55921005|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:ORPHA70482|Human_Phenotype_Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human_Phenotype_Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human_Phenotype_Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118,SNOMED_CT:126952004|Human_Phenotype_Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873,SNOMED_CT:123841004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human_Phenotype_Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED_CT:126837005|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED_CT:63634009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Adrenocortical_carcinoma|Pancreatic_adenocarcinoma|Transitional_cell_carcinoma_of_the_bladder|Multiple_myeloma|Breast_neoplasm|Carcinoma_of_esophagus|Lung_adenocarcinoma|Squamous_cell_lung_carcinoma|Neoplasm_of_brain|Neoplasm_of_uterine_cervix|Adenocarcinoma_of_stomach|Neoplasm_of_the_large_intestine|Ovarian_Serous_Cystadenocarcinoma|Uterine_Carcinosarcoma|Squamous_cell_carcinoma_of_the_head_and_neck|Glioblastoma|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675216C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:d817c4c8-1df0-4998-acec-3488a11fc4b0;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=866775781 17 7675219 246429 G T . . AF_EXAC=0.00001;ALLELEID=245078;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675219G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:3147e5cd-492f-4b46-9227-de2572c8bc19|UniProtKB_(protein):P04637#VAR_005872;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=769270327 17 7675232 656751 G T . . ALLELEID=646767;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675232G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:69da5ddc-e144-48e0-aa76-30754f54757b;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=730881999 17 7675997 458537 G T . . ALLELEID=468405;CLNDISDB=MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7675997G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:a9d7558a-f941-4cec-95c8-682dafc6ca40;GENEINFO=TP53:7157;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555526478 17 7675999 182926 A T . . AF_EXAC=0.00001;ALLELEID=181018;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7675999A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044709|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:889f1ca0-a6ae-47bf-870f-3acbecfef5b7;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730881997 17 7676005 141101 C T . . ALLELEID=150815;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified;CLNHGVS=NC_000017.11:g.7676005C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:b798ce06-59db-49cb-9737-d4dd3180f978;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781495 17 7676016 419837 G A . . ALLELEID=410278;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676016G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064794141 17 7676025 182925 T C . . ALLELEID=181019;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676025T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:aac8ac5a-a8b7-4651-9186-9267f2bbb3d5;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730881996 17 7676040 127808 C T . . AF_TGP=0.00060;ALLELEID=133265;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.7676040C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:00b45dfa-19f3-45de-975a-7b43bbc2be44|UniProtKB_(protein):P04637#VAR_044677|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2826111;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=11540654 17 7676047 142431 C T . . AF_EXAC=0.00002;ALLELEID=152145;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676047C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044672|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:d400b1c5-5b0e-4db7-af65-5d8c17b4a26b;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587782461 17 7676050 140786 A G . . AF_ESP=0.00008;AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=150500;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676050A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:b172bcbe-5cff-4ba5-9ba2-482b4e1e357d|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2822957|UniProtKB_(protein):P04637#VAR_044670;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368771578 17 7676119 140833 C T . . AF_EXAC=0.00002;ALLELEID=150547;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676119C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847521|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:37964f4e-7d50-4830-ba30-a640ab3afdb2;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781307 17 7676124 182946 G A . . AF_EXAC=0.00002;ALLELEID=181024;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Malignant_tumor_of_breast|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676124G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:9c16efaa-0151-4cfa-a50b-acebbb823912|UniProtKB_(protein):P04637#VAR_044621;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=534447939 17 7676148 141547 G A . . AF_EXAC=0.00001;ALLELEID=151261;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676148G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:ad0ddb25-8464-4d3f-b3c7-c54eb5535e21;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781832 17 7676152 142386 C T . . AF_EXAC=0.00005;ALLELEID=152100;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676152C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044607|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850957|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:f34e83bc-68f7-4351-8dc9-2d94aa0ddeac;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587782423 17 7676154 185120 G T . . ALLELEID=185405;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7676154G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:5b6326a9-cfce-4111-96c4-46eaacd8c2df|UniProtKB_(protein):P04637#VAR_045786;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1042522 17 7676154 182953 GG CA . . ALLELEID=181026;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676154_7676155delinsCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:b7e523bb-93f5-4505-943a-3286739499c5;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730882014 17 7676155 142854 G C . . ALLELEID=152568;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676155G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:3a7347e6-77f5-4cc5-a6d2-555e45cc238b;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587782769 17 7676163 230112 G C . . ALLELEID=236508;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7676163G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044600|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:521a9719-6db1-4bce-9eb7-cd771b563238;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=756233241 17 7676181 182922 G A . . AF_EXAC=0.00002;ALLELEID=181027;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676181G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044590|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:ef9d90c6-8b7a-4989-9f0f-7bd7f52113b0;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372201428 17 7676181 229693 G C . . ALLELEID=236509;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676181G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372201428 17 7676220 216464 A G . . AF_ESP=0.00008;ALLELEID=213405;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7676220A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:dfaea420-dc78-42fc-8466-b64b8fbcf7ed;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370502517 17 7676224 135948 C G . . ALLELEID=139660;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified;CLNHGVS=NC_000017.11:g.7676224C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:3ae5f394-d710-4984-8d13-7c585ade67dc|Illumina_Laboratory_Services,Illumina:608537|UniProtKB_(protein):P04637#VAR_044571;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587780728 17 7676224 186363 C T . . ALLELEID=185412;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676224C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044572|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:919a92fa-b50b-4d78-ad70-26b081a7dc4d|Illumina_Laboratory_Services,Illumina:917967;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587780728 17 7676225 141056 G T . . ALLELEID=150770;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7676225G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:a73c7ac4-5d9a-4c83-8aab-e4fea34cea32;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587781460 17 7676230 43588 G A . . AF_ESP=0.00515;AF_EXAC=0.00172;AF_TGP=0.00559;ALLELEID=52757;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676230G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:13518|UniProtKB_(protein):P04637#VAR_014632|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:d9f1afe3-5f5c-4af4-8f96-d83399ee9404|Illumina_Laboratory_Services,Illumina:1366765;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1800371 17 7676262 141597 G T . . ALLELEID=151311;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676262G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:6b107a24-eff7-4b60-b98a-3d8682be8658;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587781866 17 7676264 142562 C G . . ALLELEID=152276;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676264C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:9f61138a-40be-4434-b6e0-cba991e23049|UniProtKB_(protein):P04637#VAR_005852|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1971595;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=121912661 17 7676273 638853 C T . . ALLELEID=652855;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676273C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:b8bc495e-5c4e-42b1-89c3-4e8dbb41b60b;GENEINFO=TP53:7157;MC=SO:0001574|splice_acceptor_variant;ORIGIN=3;RS=1597375294 17 7676275 187457 G A . . ALLELEID=185418;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676275G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:5281b614-fb59-400c-b34d-b56faa078da3;GENEINFO=TP53:7157;MC=SO:0001627|intron_variant;ORIGIN=1;RS=786203749 17 7676387 142158 CGTT C . . ALLELEID=151872;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676388GTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:7d2cb855-34af-45fd-82a4-737b107f9814|Invitae:560782;GENEINFO=TP53:7157;MC=SO:0001822|inframe_deletion,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587782270 17 7676549 1172924 G T . . ALLELEID=1162107;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623;CLNDN=Li-Fraumeni_syndrome_1;CLNHGVS=NC_000017.11:g.7676549G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:293a5c7a-2593-4a7d-afc2-9e06636238fe;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1 17 7676558 406604 G A . . ALLELEID=403166;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_provided;CLNHGVS=NC_000017.11:g.7676558G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1060501208 17 7676567 231387 C G . . ALLELEID=236519;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome;CLNHGVS=NC_000017.11:g.7676567C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=535274413 17 7676567 127806 C T . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=133263;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Squamous_cell_carcinoma_of_the_head_and_neck|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676567C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P04637#VAR_044546|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:162403|ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:48c832f0-7992-455f-bf7e-15572c0d545d;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=535274413 17 7676574 140782 A T . . ALLELEID=150496;CLNDISDB=MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676574A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_TP53_Variant_Curation_Expert_Panel,ClinGen:8af93002-92ef-4bc7-a260-86d8e8baf34f;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587781277 17 7676584 237941 G A . . ALLELEID=242994;CLNDISDB=Gene:553989,MONDO:MONDO:0007903,MedGen:C1835398,OMIM:151623|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:ORPHA524,SNOMED_CT:428850001|MedGen:CN169374|MedGen:CN517202;CLNDN=Li-Fraumeni_syndrome_1|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.7676584G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2839683;GENEINFO=TP53:7157;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=878854064 17 43039471 209219 G A . . AF_TGP=0.00679;ALLELEID=206177;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43039471G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=78603756 17 43039818 209220 G A . . AF_TGP=0.00379;ALLELEID=206178;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43039818G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=150356989 17 43039999 209221 C CAT . . ALLELEID=206179;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43040001TA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;ORIGIN=1;RS=35578914 17 43040165 209222 C T . . AF_TGP=0.01558;ALLELEID=206180;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43040165C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=112222971 17 43041129 209223 C G . . AF_TGP=0.00200;ALLELEID=206181;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43041129C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=138528005 17 43041407 209224 A T . . AF_TGP=0.01817;ALLELEID=206182;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43041407A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=13342026 17 43041622 209225 G T . . AF_TGP=0.00958;ALLELEID=206183;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43041622G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=78612526 17 43041893 209226 A T . . AF_TGP=0.53774;ALLELEID=206184;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43041893A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=8071278 17 43042868 209227 T C . . AF_TGP=0.49141;ALLELEID=206185;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43042868T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=7223952 17 43043008 209228 T A . . AF_TGP=0.34225;ALLELEID=206186;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43043008T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=11659028 17 43043076 209229 G A . . AF_TGP=0.00958;ALLELEID=206187;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43043076G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=116585239 17 43043694 209230 G C . . AF_TGP=0.34245;ALLELEID=206188;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43043694G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=8176323 17 43043756 209231 A G . . AF_TGP=0.34225;ALLELEID=206189;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43043756A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;ORIGIN=1;RS=8176322 17 43044346 209232 C T . . AF_EXAC=0.00500;AF_TGP=0.00419;ALLELEID=206190;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43044346C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:69036;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=8176320 17 43044351 264789 C T . . AF_EXAC=0.01533;AF_TGP=0.00839;ALLELEID=259533;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43044351C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:253228;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=184237074 17 43044391 132777 G A . . AF_EXAC=0.44485;AF_TGP=0.34225;ALLELEID=136525;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43044391G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:251231;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=12516 17 43044565 209233 C T . . AF_EXAC=0.00073;AF_TGP=0.00499;ALLELEID=206191;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43044565C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:618538;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=111791349 17 43044804 264856 CT C . . ALLELEID=259534;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43044823del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Laboratory_Services,Illumina:833813|Illumina_Laboratory_Services,Illumina:834065;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=59541324 17 43044897 132778 G A . . AF_EXAC=0.00111;AF_TGP=0.00719;ALLELEID=136526;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43044897G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:575826;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=8176319 17 43045257 209234 C A . . AF_EXAC=0.44647;AF_TGP=0.32448;ALLELEID=206192;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43045257C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:19704;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=8176318 17 43045450 209235 T C . . AF_EXAC=0.00026;AF_TGP=0.00140;ALLELEID=206193;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045450T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=56108540 17 43045642 125873 G C . . AF_ESP=0.01561;AF_TGP=0.01558;ALLELEID=131411;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43045642G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:575774|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:26683|Breast_Cancer_Information_Core__(BRCA1):5747&base_change%3DC_to_G|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-13;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3092995 17 43045684 185343 G A . . AF_EXAC=0.00002;ALLELEID=184861;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43045684G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:906128;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=774127304 17 43045694 55634 G C . . AF_EXAC=0.00002;ALLELEID=70301;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43045694G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2270376|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287836|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2559680|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00098|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778355;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357322 17 43045696 232711 G A . . ALLELEID=235923;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045696G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=876659941 17 43045698 183951 T G . . AF_EXAC=0.00006;ALLELEID=184864;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43045698T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00097|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844650;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=765656957 17 43045702 232797 G T . . ALLELEID=235924;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045702G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=876659994 17 43045705 427301 T G . . AF_EXAC=0.00007;ALLELEID=416420;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045705T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=758449088 17 43045705 55602 TATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG T . . ALLELEID=70269;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045706_43045767del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5622&base_change%3Ddel_62;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80359883 17 43045708 184730 C T . . ALLELEID=184866;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045708C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=786201648 17 43045709 266565 AG A . . ALLELEID=261563;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045711del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886040306 17 43045709 266564 AGGTAG A . . ALLELEID=261562;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045711_43045715del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:8768837;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886040305 17 43045711 55630 G C . . ALLELEID=70297;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43045711G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357336 17 43045711 55628 G GT . . ALLELEID=70295;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045712dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1123179|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287830|Breast_Cancer_Information_Core__(BRCA1):5677&base_change%3Dins_A|OMIM_Allelic_Variant:113705.0019;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357629 17 43045711 55629 G T . . ALLELEID=70296;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045711G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357336 17 43045713 266561 AGGTGTCCAGCTCCTGGCACT A . . ALLELEID=261564;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045717_43045736del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886040302 17 43045714 55626 G C . . ALLELEID=70293;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045714G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356841 17 43045716 55625 T TG . . ALLELEID=70292;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045717dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397509297 17 43045718 266563 TC T . . ALLELEID=261565;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045720del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886040304 17 43045720 184500 C G . . ALLELEID=184867;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43045720C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=786201502 17 43045721 55623 AG A . . ALLELEID=70290;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045722del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397509296 17 43045728 266562 G A . . ALLELEID=261566;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045728G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886040303 17 43045729 55622 G T . . ALLELEID=70289;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045729G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459329;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397509295 17 43045732 55621 C T . . ALLELEID=70288;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43045732C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2198331|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287824|Breast_Cancer_Information_Core__(BRCA1):5657&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356849 17 43045733 266560 TG T . . ALLELEID=261567;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045735del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886040301 17 43045734 55620 G A . . ALLELEID=70287;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045734G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356873 17 43045735 266559 G C . . ALLELEID=261568;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045735G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356977 17 43045735 55619 G T . . ALLELEID=70286;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045735G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356977 17 43045735 417827 GT G . . ALLELEID=404709;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045736del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1060505048 17 43045736 55618 T TA . . ALLELEID=70285;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43045737dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2527550;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397509294 17 43045736 548197 T TC . . ALLELEID=538758;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045736_43045737insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1555574384 17 43045736 418073 TAG T . . ALLELEID=409939;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43045737AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1064793059 17 43045738 55616 G A . . ALLELEID=70283;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045738G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5651&base_change%3DC_to_T;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356829 17 43045738 252389 GAGTGCTAC G . . ALLELEID=246808;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045740_43045747del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=879255287 17 43045739 55615 A C . . ALLELEID=70282;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43045739A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2674382;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357323 17 43045744 219716 TA T . . ALLELEID=222645;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045745del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1222075;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=864622220 17 43045747 240824 A G . . ALLELEID=242755;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045747A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=878854960 17 43045748 55612 CT C . . ALLELEID=70279;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045749del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5640&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357721 17 43045751 548201 TC T . . ALLELEID=538759;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045753del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1555574414 17 43045754 91656 A G . . ALLELEID=97133;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43045754A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=398122702 17 43045756 184051 C A . . ALLELEID=184868;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43045756C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841568;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=786201248 17 43045757 55611 A T . . ALLELEID=70278;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045757A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00039;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357107 17 43045757 55610 AC A . . ALLELEID=70277;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045760del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941425|Breast_Cancer_Information_Core__(BRCA1):5629&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357839 17 43045758 125867 CCCACTCTCGGGTCA C . . ALLELEID=131405;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045763_43045776del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5617&base_change%3Ddel_14;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80359873 17 43045759 55609 C T . . ALLELEID=70276;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43045759C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287806|Breast_Cancer_Information_Core__(BRCA1):5630&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356914 17 43045759 431281 CCA C . . ALLELEID=424782;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045761_43045762del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1135401888 17 43045759 266554 CCACTCTCGGGTCACCACAGGTGCCT C . . ALLELEID=261569;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045763_43045787del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001578|stop_lost,SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040297 17 43045760 55608 C T . . ALLELEID=70275;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045760C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287800|Breast_Cancer_Information_Core__(BRCA1):5629&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357307 17 43045761 37679 A G . . ALLELEID=46235;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045761A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_070518;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356959 17 43045763 266557 TCTCG T . . ALLELEID=261570;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045764_43045767del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886040300 17 43045763 55599 TCTCGGGTCAC T . . ALLELEID=70266;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43045765_43045774del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941432;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=273902775 17 43045764 55606 C A . . ALLELEID=70273;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045764C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80356942 17 43045764 55597 CTCGGGTCACC T . . ALLELEID=70264;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045764_43045774delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841585|Breast_Cancer_Information_Core__(BRCA1):5615&base_change%3Ddel_GGTGACCCGAG_ins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=273902775 17 43045766 266558 C CG . . ALLELEID=261572;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045769dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:3915832;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397509291 17 43045766 266556 C CGG . . ALLELEID=261571;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045768_43045769dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397509291 17 43045766 55603 CG C . . ALLELEID=70270;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045769del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397509291 17 43045767 55601 G A . . ALLELEID=70268;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008903,MedGen:C0242379,OMIM:211980,SNOMED_CT:363358000|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Breast_neoplasm|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Lung_cancer|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43045767G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287782|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1840167|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2389243;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=3;RS=41293465 17 43045770 236274 TCACC T . . ALLELEID=237827;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045771_43045774del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=878853296 17 43045774 548175 C CAA . . ALLELEID=538760;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045775_43045776insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1555574436 17 43045774 427255 C T . . ALLELEID=416421;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045774C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1131692070 17 43045776 266555 C CAA . . ALLELEID=261573;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045777_43045778insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287776;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886040298 17 43045777 55596 AG A . . ALLELEID=70263;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43045779del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5611&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357582 17 43045779 125861 GT G . . ALLELEID=131399;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045780del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5609&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=80357976 17 43045784 254471 T TC . . AF_EXAC=0.00001;ALLELEID=249073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045785dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001578|stop_lost,SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=768401297 17 43045784 254470 TCA T . . ALLELEID=249072;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045785CA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001578|stop_lost,SO:0001587|nonsense,SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038046 17 43045786 55593 AC A . . ALLELEID=70260;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43045787del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509288 17 43045788 182075 ACATCTGCC A . . ALLELEID=180816;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045791_43045798del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=730881441 17 43045790 96952 A ATC . . ALLELEID=102855;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045792_43045793dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5598&base_change%3Dins_GA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357757 17 43045792 55591 CTGCCCAAT C . . ALLELEID=70258;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43045796_43045803del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1366146|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837197|Breast_Cancer_Information_Core__(BRCA1):5589&base_change%3Ddel_ATTGGGCA;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357973 17 43045803 125856 C T . . ALLELEID=131394;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43045803C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5587-1&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358048 17 43045812 55589 G T . . AF_ESP=0.00507;AF_EXAC=0.00141;AF_TGP=0.00559;ALLELEID=70256;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided;CLNHGVS=NC_000017.11:g.43045812G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:45052|Breast_Cancer_Information_Core__(BRCA1):5587-10&base_change%3DC_to_A;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176316 17 43046070 209236 T G . . AF_TGP=0.00439;ALLELEID=206194;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43046070T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=181430678 17 43046253 209237 G A . . AF_TGP=0.01138;ALLELEID=206195;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43046253G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147297981 17 43046604 209238 A G . . AF_TGP=0.34245;ALLELEID=206196;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43046604A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176314 17 43046757 264834 C CA . . ALLELEID=259535;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43046773dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=370148636 17 43046931 209239 G C . . AF_TGP=0.00300;ALLELEID=206197;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43046931G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139237482 17 43046985 209240 C T . . AF_TGP=0.00559;ALLELEID=206198;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43046985C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176313 17 43047106 209241 T C . . AF_TGP=0.11701;ALLELEID=206199;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047106T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176312 17 43047161 209242 G A . . AF_TGP=0.02995;ALLELEID=206200;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047161G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8068463 17 43047643 548237 C CA . . ALLELEID=538761;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047644dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555574698 17 43047644 323421 A G . . ALLELEID=328620;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43047644A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:69046;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=886052975 17 43047645 125850 T TA . . ALLELEID=131388;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047645_43047646insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273902769 17 43047646 373823 G GA . . ALLELEID=360716;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43047646_43047647insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1057518636 17 43047658 55584 CCT C . . ALLELEID=70251;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43047659CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509286 17 43047661 55583 C A . . ALLELEID=70250;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047661C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356868 17 43047662 55582 T C . . ALLELEID=70249;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047662T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=397509285 17 43047665 55581 C T . . AF_EXAC=0.00001;ALLELEID=70248;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43047665C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287746;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509284 17 43047666 55580 C T . . ALLELEID=70247;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Breast_neoplasm|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43047666C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287740|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851347;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356962 17 43047669 55579 GC G . . ALLELEID=70246;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5559&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80357946 17 43047671 230363 A G . . AF_EXAC=0.00001;ALLELEID=235926;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43047671A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855740;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=760396669 17 43047679 55577 G A . . ALLELEID=70244;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43047679G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509283 17 43047679 548179 G GTC . . ALLELEID=538762;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047679_43047680insTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555574722 17 43047680 184631 C T . . ALLELEID=184870;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43047680C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201582 17 43047682 433737 C CA . . ALLELEID=427519;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047684dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555574739 17 43047690 266553 A AT . . ALLELEID=261574;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047692dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357934 17 43047690 55571 AT A . . ALLELEID=70238;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43047692del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5537&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357934 17 43047692 37669 TG T . . ALLELEID=46225;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43047695del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5536&base_change%3Ddel_C|Invitae:4941453;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357558 17 43047695 267222 GTGGACACC G . . ALLELEID=262099;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43047696_43047703del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1829858;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040865 17 43047698 182098 G A . . AF_EXAC=0.00001;ALLELEID=180819;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43047698G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2504030;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=730881456 17 43047699 55568 A T . . AF_ESP=0.00015;AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=70235;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Ovarian_cancer|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43047699A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2825321|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00096|UniProtKB_(protein):P38398#VAR_070516;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356920 17 43047896 209243 T C . . AF_TGP=0.53395;ALLELEID=206201;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43047896T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176310 17 43048092 209244 T C . . AF_TGP=0.34265;ALLELEID=206202;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43048092T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4793190 17 43048506 209245 TTC T . . ALLELEID=206203;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43048508CT[5];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200225694 17 43048519 209246 T TC . . ALLELEID=206204;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43048519_43048520insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200489356 17 43048520 209247 T C . . ALLELEID=206205;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43048520T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4792972 17 43048825 264799 C T . . AF_TGP=0.00359;ALLELEID=259536;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43048825C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=73311445 17 43049053 125842 A G . . AF_TGP=0.01058;ALLELEID=131380;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43049053A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5525+68&base_change%3DT_to_C;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176307 17 43049088 55561 T A . . AF_EXAC=0.00077;AF_TGP=0.00220;ALLELEID=70228;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43049088T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5525+33&base_change%3DA_to_T;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358092 17 43049113 125843 A G . . AF_ESP=0.00492;AF_EXAC=0.00155;AF_TGP=0.00499;ALLELEID=131381;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43049113A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5525+8&base_change%3DT_to_C|Illumina_Laboratory_Services,Illumina:618540|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:40170|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459314;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55946644 17 43049121 252887 T G . . ALLELEID=247288;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049121T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841552;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255493 17 43049128 420726 AG A . . ALLELEID=409944;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43049131del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6861697;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064794662 17 43049129 125833 GGGTGAATGATGAAAGCTCCTTCACCACA G . . ALLELEID=131371;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049131_43049158del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5489&base_change%3Ddel_28;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80359878 17 43049130 427287 G A . . ALLELEID=416422;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049130G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692096 17 43049133 427362 G A . . AF_EXAC=0.00001;ALLELEID=416423;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049133G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=777371808 17 43049135 254469 AT A . . AF_EXAC=0.00001;ALLELEID=249074;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049136del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=774988515 17 43049137 266552 G C . . ALLELEID=261575;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049137G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255492 17 43049137 266551 G GA . . ALLELEID=261576;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049138dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040295 17 43049139 184087 T C . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=184874;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43049139T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=373810778 17 43049140 55558 G GA . . ALLELEID=70225;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049143dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5502&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357838 17 43049140 37663 G T . . ALLELEID=46219;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049140G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357055 17 43049140 37662 GA G . . ALLELEID=46218;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049143del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357838 17 43049141 55554 AAAGCTCCTTCACCACAG A . . ALLELEID=70221;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43049146_43049162del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509272 17 43049147 433733 C A . . ALLELEID=427523;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049147C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=776323117 17 43049150 55556 T A . . ALLELEID=70223;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43049150T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509274 17 43049158 246134 GA G . . ALLELEID=245018;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049160del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2695773;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879254116 17 43049160 254468 AG A . . AF_EXAC=0.00001;ALLELEID=249075;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049161del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=760188581 17 43049164 37660 C A . . ALLELEID=46216;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43049164C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2204415|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00047|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2539579|UniProtKB_(protein):P38398#VAR_063910;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357069 17 43049164 55551 C T . . ALLELEID=70218;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43049164C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287692;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357069;CLNDISDBINCL=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDNINCL=Breast-ovarian_cancer,_familial_1;CLNSIGINCL=624568:Pathogenic 17 43049164 266550 CCA C . . ALLELEID=261577;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43049165CA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040294 17 43049164 187349 CCACA TCACT . . ALLELEID=184875;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049164_43049168delinsTCACT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203663 17 43049166 55549 AC CT . . ALLELEID=70216;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049166_43049167delinsCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509270 17 43049168 55548 A T . . ALLELEID=70215;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049168A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Pathogenic(2),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00001;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357065;CLNDISDBINCL=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDNINCL=Breast-ovarian_cancer,_familial_1;CLNSIGINCL=624568:Pathogenic 17 43049172 266549 C CTG . . ALLELEID=261578;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43049174_43049175dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040293 17 43049174 55546 G A . . ALLELEID=70213;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049174G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356969 17 43049174 125832 G GT . . ALLELEID=131370;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049175dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5471&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357744 17 43049175 427333 T C . . AF_EXAC=0.00006;ALLELEID=416424;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43049175T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=767459025 17 43049178 266548 CA C . . ALLELEID=261579;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049179del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040292 17 43049181 37658 C T . . ALLELEID=46214;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049181C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847583|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287680;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357284 17 43049182 55544 C T . . ALLELEID=70211;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049182C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287674;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357219 17 43049184 266547 TTC CA . . ALLELEID=261580;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049184_43049186delinsCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040291 17 43049185 55543 TC T . . ALLELEID=70210;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049187del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5460&base_change%3Ddel_G|Invitae:4941476;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357694 17 43049186 55542 C A . . ALLELEID=70209;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43049186C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509268 17 43049187 427323 C T . . AF_EXAC=0.00001;ALLELEID=416425;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049187C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=766700840 17 43049188 254467 AG A . . ALLELEID=249076;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43049189del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038045 17 43049190 232356 T C . . ALLELEID=235931;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43049190T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659718 17 43049191 37657 TG T . . AF_EXAC=0.00001;ALLELEID=46213;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049192del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5454&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357590 17 43049192 55540 G A . . ALLELEID=70207;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049192G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509267 17 43049347 209248 T C . . AF_TGP=0.03215;ALLELEID=206206;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049347T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176305 17 43049415 209249 G T . . AF_TGP=0.00559;ALLELEID=206207;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43049415G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176304 17 43049448 209250 T C . . AF_TGP=0.00938;ALLELEID=206208;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43049448T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176303 17 43049498 209251 C T . . AF_TGP=0.00260;ALLELEID=206209;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43049498C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55633264 17 43049685 209252 C T . . AF_TGP=0.32508;ALLELEID=206210;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43049685C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3092988 17 43050562 209253 G A . . AF_TGP=0.06410;ALLELEID=206211;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43050562G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12949768 17 43050573 209254 A T . . AF_TGP=0.03714;ALLELEID=206212;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43050573A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11079053 17 43050608 209255 CA C . . ALLELEID=206213;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43050617del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35805899 17 43050671 209256 G A . . AF_TGP=0.53774;ALLELEID=206214;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43050671G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8070179 17 43050878 209257 T G . . AF_TGP=0.00339;ALLELEID=206215;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43050878T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176298 17 43050880 209258 G GT . . ALLELEID=206216;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43050889dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:263954;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201644509 17 43051062 55527 C T . . AF_EXAC=0.00001;ALLELEID=70194;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43051062C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5451+1&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358041 17 43051062 236263 CCT ATGTTG . . ALLELEID=237828;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051062_43051064delinsATGTTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=878853286 17 43051066 55526 T TG . . ALLELEID=70193;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051069dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5447&base_change%3Dins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357751 17 43051066 232820 TG T . . ALLELEID=235932;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43051069del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941493;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357751 17 43051067 185660 G A . . AF_EXAC=0.00002;ALLELEID=184877;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43051067G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834495;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=759867616 17 43051070 55525 CAT C . . ALLELEID=70192;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43051071_43051072del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509262 17 43051071 17694 A C . . ALLELEID=32733;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43051071A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:113705.0035|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1824245|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2587294|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00105|Genologica_Medica:GNL0026|UniProtKB_(protein):P38398#VAR_007799|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287644;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=41293463 17 43051071 17695 A T . . ALLELEID=32734;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43051071A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:113705.0036|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00110|UniProtKB_(protein):P38398#VAR_063212|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287638;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=41293463 17 43051073 55524 GTT G . . ALLELEID=70191;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43051074_43051075del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5439&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357818 17 43051075 55523 T TG . . ALLELEID=70190;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43051077dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1113178|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287626|OMIM_Allelic_Variant:113705.0021|Breast_Cancer_Information_Core__(BRCA1):5438&base_change%3Dins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357823 17 43051079 55520 GA G . . ALLELEID=70187;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051081del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509261 17 43051082 427261 G A . . ALLELEID=416426;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051082G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692076 17 43051083 141536 GGC G . . ALLELEID=151250;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43051084_43051085del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587781825 17 43051084 55517 G GC . . ALLELEID=70184;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43051087dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357581 17 43051084 55516 GC G . . ALLELEID=70183;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43051087del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5427&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357581 17 43051085 219830 C G . . ALLELEID=222648;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43051085C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=273901761 17 43051085 55515 C T . . ALLELEID=70182;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43051085C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459270;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=273901761 17 43051086 417832 C A . . ALLELEID=404710;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43051086C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=863224765 17 43051088 55514 A T . . ALLELEID=70181;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43051088A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843422;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509258 17 43051090 125820 AG A . . ALLELEID=131358;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051091del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5423&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357959 17 43051091 182097 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;AF_TGP=0.00060;ALLELEID=180822;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43051091G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2358729|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846720;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=138493864 17 43051092 266545 CA C . . ALLELEID=261581;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43051094del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040289 17 43051093 266543 AAC A . . ALLELEID=261583;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051095_43051096del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040287 17 43051094 266544 A T . . ALLELEID=261582;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051094A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040288 17 43051095 266542 CA C . . ALLELEID=261584;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051096del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040286 17 43051098 37656 A C . . ALLELEID=46212;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43051098A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_063909|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00044|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287608;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357463 17 43051102 55511 C A . . ALLELEID=70178;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43051102C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509256 17 43051104 55510 A G . . ALLELEID=70177;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43051104A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00049|UniProtKB_(protein):P38398#VAR_063908;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357281 17 43051105 37655 G GC . . ALLELEID=46211;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051110dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4941508|Breast_Cancer_Information_Core__(BRCA1):5404&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357886 17 43051105 55508 GC G . . ALLELEID=70175;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43051110del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941509;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357886 17 43051110 55506 CT C . . ALLELEID=70173;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051111del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5403&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357684 17 43051112 266541 GA G . . ALLELEID=261585;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051114del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040285 17 43051115 186911 G T . . ALLELEID=184878;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43051115G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=750040616 17 43051118 236262 CT C . . ALLELEID=237829;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051119del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=878853285 17 43051131 91645 G C . . AF_ESP=0.00023;AF_EXAC=0.00003;ALLELEID=97122;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43051131G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5397-14&base_change%3DC_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358105 17 43051308 209259 T A . . AF_TGP=0.34285;ALLELEID=206217;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43051308T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176297 17 43051574 209260 T C . . AF_TGP=0.34285;ALLELEID=206218;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051574T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176296 17 43051581 264794 C T . . AF_TGP=0.00619;ALLELEID=259537;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051581C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=545723152 17 43051659 264820 C T . . AF_TGP=0.00300;ALLELEID=259538;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051659C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139210193 17 43051663 264832 GTCTC G . . ALLELEID=259539;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051665CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=538015792 17 43051690 209261 G A . . AF_TGP=0.00220;ALLELEID=206219;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051690G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143338062 17 43051983 209262 C G . . AF_TGP=0.00499;ALLELEID=206220;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43051983C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148509734 17 43052001 209263 T C . . AF_TGP=0.00499;ALLELEID=206221;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052001T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113892722 17 43052188 209264 C T . . AF_TGP=0.00300;ALLELEID=206222;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052188C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150614759 17 43052344 209265 G A . . AF_TGP=0.00499;ALLELEID=206223;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052344G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111563453 17 43052360 209266 A G . . AF_TGP=0.34285;ALLELEID=206224;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052360A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4793191 17 43052373 209267 T C . . AF_TGP=0.34265;ALLELEID=206225;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052373T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4793192 17 43052636 209268 T C . . AF_TGP=0.01058;ALLELEID=206226;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052636T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114112971 17 43052761 209269 T C . . AF_TGP=0.01178;ALLELEID=206227;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052761T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34685631 17 43052839 209270 G A . . AF_TGP=0.07867;ALLELEID=206228;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052839G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=17671533 17 43052883 209271 T G . . AF_TGP=0.04892;ALLELEID=206229;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052883T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117151230 17 43052991 209272 C T . . AF_TGP=0.01398;ALLELEID=206230;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43052991C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176295 17 43053035 209273 C T . . AF_TGP=0.00220;ALLELEID=206231;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43053035C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149958317 17 43053353 209274 GT G . . ALLELEID=206232;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43053355del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176293 17 43053615 209275 C T . . AF_TGP=0.00040;ALLELEID=206233;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43053615C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182249140 17 43053704 209276 G A . . AF_TGP=0.14736;ALLELEID=206234;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43053704G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=6503725 17 43053755 209277 G A . . AF_TGP=0.34265;ALLELEID=206235;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43053755G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176290 17 43053924 209278 A G . . AF_TGP=0.49022;ALLELEID=206236;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43053924A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7212284 17 43054039 209279 T C . . AF_TGP=0.34285;ALLELEID=206237;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43054039T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176289 17 43054080 209280 C T . . AF_TGP=0.01617;ALLELEID=206238;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43054080C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=78695654 17 43054114 264859 A G . . AF_TGP=0.00359;ALLELEID=259540;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43054114A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176288 17 43054613 209281 A T . . AF_TGP=0.01118;ALLELEID=206239;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43054613A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143042094 17 43054744 264843 AT A . . ALLELEID=259541;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43054760del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11347376 17 43054835 209282 T C . . AF_TGP=0.16673;ALLELEID=206240;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43054835T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176287 17 43055023 264851 C G . . AF_TGP=0.00240;ALLELEID=259542;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43055023C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=371465813 17 43055445 209283 C A . . AF_TGP=0.02157;ALLELEID=206241;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43055445C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=62076408 17 43055643 209284 C T . . AF_TGP=0.00998;ALLELEID=206242;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43055643C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=36113921 17 43056191 264840 C T . . AF_TGP=0.28474;ALLELEID=259543;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43056191C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=372544924 17 43056199 209285 A C . . AF_TGP=0.00839;ALLELEID=206243;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43056199A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116703787 17 43056288 209286 C T . . AF_TGP=0.00499;ALLELEID=206244;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43056288C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=112757145 17 43056450 209287 A G . . AF_TGP=0.01558;ALLELEID=206245;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43056450A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176286 17 43056686 209288 AG A . . ALLELEID=206246;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43056687del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201212001 17 43056737 264833 A G . . AF_TGP=0.00260;ALLELEID=259544;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43056737A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183831660 17 43056866 264830 A G . . AF_TGP=0.00319;ALLELEID=259545;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43056866A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176284 17 43056974 125817 C T . . AF_TGP=0.00020;ALLELEID=131355;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43056974C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5396+78&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358107 17 43056992 433729 G GGGAGTGGAATAC . . ALLELEID=427527;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43056993_43057004dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:14974;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=572766355 17 43057045 125810 GCTTTAC G . . ALLELEID=131348;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43057050_43057055del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5396+1&base_change%3Ddel_6|Invitae:1016926;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1060502356 17 43057051 37654 C T . . ALLELEID=46210;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43057051C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2462638|Breast_Cancer_Information_Core__(BRCA1):5396+1&base_change%3DG_to_A|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00146|MutSpliceDB:_a_database_of_splice_sites_variants_effects_on_splicing,NIH:CA003419|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287578;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358150 17 43057052 254466 CT C . . ALLELEID=249077;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43057055del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5393&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357732 17 43057052 55492 CTTTCTGT C . . ALLELEID=70159;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43057053_43057059del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509248 17 43057054 254465 TTCTGTCC T . . ALLELEID=249078;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057056_43057062del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038043 17 43057055 232795 T C . . AF_EXAC=0.00001;ALLELEID=235935;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43057055T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=758739620 17 43057055 185261 TCTGTC T . . ALLELEID=184880;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43057059_43057063del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786202040 17 43057059 548205 T TG . . ALLELEID=538763;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057059_43057060insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555576840 17 43057060 96946 C CG . . ALLELEID=102849;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057060_43057061insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=431825414 17 43057061 266540 C CG . . ALLELEID=261586;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057061_43057062insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040284 17 43057061 427324 C T . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416427;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057061C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=571834423 17 43057062 17677 T TG . . ALLELEID=32716;CLNDISDB=.|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008292,MedGen:C1867982,OMIM:175860,Orphanet:ORPHA79502|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Pancreatic_cancer,_susceptibility_to|Breast_neoplasm|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Punctate_palmoplantar_keratoderma_type_2|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43057065dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5382&base_change%3Dins_C|OMIM_Allelic_Variant:113705.0018|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287572|Invitae:247518;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357906 17 43057063 55490 G A . . ALLELEID=70157;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43057063G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509247 17 43057069 55489 C A . . ALLELEID=70156;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43057069C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850277;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357432 17 43057069 37651 CT C . . ALLELEID=46207;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43057070del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5378&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357925 17 43057070 187571 T C . . AF_EXAC=0.00001;ALLELEID=184881;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43057070T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=771577266 17 43057071 55486 C CT . . ALLELEID=70153;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057073dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509245 17 43057073 55485 T G . . ALLELEID=70152;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057073T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356844 17 43057077 55481 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=70148;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43057077C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:836208|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287560|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775945|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00095|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2448886;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357442 17 43057078 55480 G A . . ALLELEID=70147;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43057078G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287554|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2448993;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357123 17 43057079 548260 C CT . . ALLELEID=538765;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057082dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879253993 17 43057079 245901 CT C . . ALLELEID=245020;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43057082del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879253993 17 43057080 548214 T TGA . . ALLELEID=538764;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057080_43057081insGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555576871 17 43057081 548278 T TGA . . ALLELEID=538766;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057081_43057082insGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555576878 17 43057081 55459 TTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCT GA . . ALLELEID=70126;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057081_43057120delinsGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5328&base_change%3Ddel_40_ins_TC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273901753 17 43057082 266532 TGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTG GA . . ALLELEID=261587;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057082_43057121delinsGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040277 17 43057085 55477 AC A . . ALLELEID=70144;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057087del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5362&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357676 17 43057087 125807 CT C . . ALLELEID=131345;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_carcinoma|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057089del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5360&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357791 17 43057089 266539 T TG . . ALLELEID=261589;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057091dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040282 17 43057089 266538 TG T . . ALLELEID=261588;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43057091del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040282 17 43057090 55473 G A . . ALLELEID=70140;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43057090G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357367 17 43057091 548308 GT G . . ALLELEID=538767;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057092del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555576907 17 43057091 266537 GTGGTTTCT G . . ALLELEID=261590;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057093_43057100del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040281 17 43057092 231997 TG T . . ALLELEID=235938;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43057094del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876659483 17 43057094 254464 G GT . . ALLELEID=249079;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43057097dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038042 17 43057097 55471 TC T . . ALLELEID=70138;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43057098del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509241 17 43057098 55470 CT C . . ALLELEID=70137;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43057100del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509240 17 43057098 55469 CTT C . . ALLELEID=70136;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057099_43057100del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5348&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357852 17 43057104 266536 TTGAC T . . ALLELEID=261591;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057105_43057108del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040280 17 43057112 420420 ATC A . . ALLELEID=409947;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43057113TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1064794467 17 43057115 266535 TC T . . ALLELEID=261592;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057117del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040279 17 43057117 266534 C A . . ALLELEID=261593;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057117C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356937 17 43057117 55461 C T . . ALLELEID=70128;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43057117C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287536|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00043|UniProtKB_(protein):P38398#VAR_063907|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851263;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356937 17 43057118 548204 T TG . . ALLELEID=538768;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057118_43057119insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555576964 17 43057119 266533 C CT . . ALLELEID=261594;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057120dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040278 17 43057120 55458 T A . . ALLELEID=70125;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057120T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357496 17 43057121 55457 GA G . . ALLELEID=70124;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43057122del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509239 17 43057122 37648 A G . . ALLELEID=46204;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia,_complementation_group_S|not_provided;CLNHGVS=NC_000017.11:g.43057122A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:113705.0038|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287524|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:119164|UniProtKB_(protein):P38398#VAR_070506|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2565854;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=45553935 17 43057123 140168 CT C . . ALLELEID=150134;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43057125del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=VariO:0043;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587781258 17 43057126 232606 CA C . . ALLELEID=235940;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43057130del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3152168;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876659867 17 43057127 548284 A AG . . ALLELEID=538769;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057127_43057128insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555576982 17 43057131 55453 T C . . ALLELEID=70120;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43057131T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2687417;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357270 17 43057147 55451 C T . . ALLELEID=70118;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S;CLNHGVS=NC_000017.11:g.43057147C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00123|Breast_Cancer_Information_Core__(BRCA1):5313-12&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358079 17 43057356 209289 A G . . AF_TGP=0.00499;ALLELEID=206247;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43057356A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111611613 17 43057538 264854 A T . . AF_TGP=0.00359;ALLELEID=259546;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057538A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=559234080 17 43057558 209290 G A . . AF_TGP=0.00519;ALLELEID=206248;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057558G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149635371 17 43057561 209291 T C . . AF_TGP=0.34265;ALLELEID=206249;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057561T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176282 17 43057601 209292 C T . . AF_TGP=0.01318;ALLELEID=206250;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057601C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176281 17 43057610 209293 C A . . AF_TGP=0.00958;ALLELEID=206251;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43057610C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176280 17 43058314 209294 C A . . AF_TGP=0.04233;ALLELEID=206252;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43058314C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8066171 17 43058377 209295 A C . . AF_TGP=0.00839;ALLELEID=206253;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43058377A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146318688 17 43058379 209296 A C . . AF_TGP=0.45927;ALLELEID=206254;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43058379A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176279 17 43058399 209297 T C . . AF_TGP=0.14996;ALLELEID=206255;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43058399T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176278 17 43058585 209298 T C . . AF_TGP=0.00619;ALLELEID=206256;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43058585T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176276 17 43059207 209299 C T . . AF_TGP=0.00060;ALLELEID=206257;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43059207C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=181752925 17 43059351 209300 C A . . AF_TGP=0.00040;ALLELEID=206258;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43059351C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142638930 17 43059469 264857 C CACA . . ALLELEID=259547;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43059471CAA[16];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=746155740 17 43059516 264816 A C . . AF_TGP=0.00799;ALLELEID=259548;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43059516A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186594388 17 43059636 209301 A G . . AF_TGP=0.32488;ALLELEID=206259;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43059636A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176273 17 43059936 209302 T C . . AF_TGP=0.01298;ALLELEID=206260;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43059936T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=185244474 17 43060047 264810 A G . . AF_TGP=0.00260;ALLELEID=259549;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060047A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=189676688 17 43060152 209303 C T . . AF_TGP=0.32488;ALLELEID=206261;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060152C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11652377 17 43060163 209304 C T . . AF_TGP=0.00160;ALLELEID=206262;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060163C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146959162 17 43060321 209305 A C . . AF_TGP=0.34265;ALLELEID=206263;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060321A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4793193 17 43060530 209306 C T . . AF_TGP=0.34245;ALLELEID=206264;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060530C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35330014 17 43060745 209307 G A . . AF_TGP=0.11522;ALLELEID=206265;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060745G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111581719 17 43060751 264803 C T . . AF_TGP=0.00919;ALLELEID=259550;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060751C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186421008 17 43060788 209308 C T . . AF_TGP=0.48962;ALLELEID=206266;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060788C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8077486 17 43060996 209309 C T . . AF_TGP=0.01098;ALLELEID=206267;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43060996C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=115522763 17 43061077 209310 G C . . AF_TGP=0.00160;ALLELEID=206268;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061077G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=141915184 17 43061103 209311 G C . . AF_TGP=0.00399;ALLELEID=206269;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061103G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146299550 17 43061301 209312 C T . . AF_TGP=0.00140;ALLELEID=206270;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061301C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139650794 17 43061609 209313 G T . . AF_TGP=0.32428;ALLELEID=206271;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061609G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176269 17 43061643 209314 T C . . AF_TGP=0.34205;ALLELEID=206272;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061643T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176268 17 43061731 209315 T C . . AF_TGP=0.08067;ALLELEID=206273;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061731T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176267 17 43061743 209316 C T . . AF_TGP=0.03215;ALLELEID=206274;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061743C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176266 17 43061876 209317 C T . . AF_TGP=0.32428;ALLELEID=206275;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061876C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2187603 17 43061979 209318 C T . . AF_TGP=0.32428;ALLELEID=206276;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43061979C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176265 17 43062062 209319 T C . . AF_TGP=0.01398;ALLELEID=206277;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43062062T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176264 17 43062098 264817 CTTT C . . ALLELEID=259551;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43062108_43062110del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=536209322 17 43062192 209320 CAA C . . AF_TGP=0.32648;ALLELEID=206278;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43062193_43062194del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176263 17 43062603 209321 T A . . AF_TGP=0.01058;ALLELEID=206279;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43062603T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186955850 17 43063333 233877 C T . . ALLELEID=235942;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063333C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876660702 17 43063333 55445 CTCATTCAGCATTTT C . . ALLELEID=70112;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43063336_43063349del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509234 17 43063339 91640 CA C . . ALLELEID=97117;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063340del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=398122692 17 43063343 55446 AT A . . ALLELEID=70113;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43063348del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941560;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=34570933 17 43063343 236273 ATT A . . ALLELEID=237830;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063347_43063348del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=34570933 17 43063345 37644 TTTTC T . . ALLELEID=46200;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063349CTTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5296&base_change%3Ddel_GAAA|Invitae:281859|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_168|Breast_Cancer_Information_Core__(BRCA1):5292&base_change%3Ddel_GAAA|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148364;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357867 17 43063347 37645 T A . . ALLELEID=46201;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063347T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287494;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357347 17 43063347 55444 TTC T . . ALLELEID=70111;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43063349_43063350del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5296&base_change%3Ddel_GA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357730 17 43063349 230276 CT C . . ALLELEID=235943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063352del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846831;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876658478 17 43063351 136552 T C . . AF_EXAC=0.00003;ALLELEID=140255;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43063351T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2699377;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=191373374 17 43063353 55442 C A . . ALLELEID=70109;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063353C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80357291 17 43063359 183180 T AAA . . ALLELEID=181313;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063359delinsAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=730882167 17 43063360 548279 A AG . . ALLELEID=538770;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063361dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555578376 17 43063360 266528 AGACTG A . . ALLELEID=261595;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063362_43063366del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040274 17 43063362 266530 A AG . . ALLELEID=261596;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063362_43063363insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040275 17 43063363 55440 CT C . . ALLELEID=70107;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063364del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509233 17 43063365 266529 G A . . ALLELEID=261597;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063365G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=878854957 17 43063366 427321 G C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=416428;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063366G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=376736915 17 43063368 55438 T C . . AF_ESP=0.00015;AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=70105;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43063368T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00093|UniProtKB_(protein):P38398#VAR_070504;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=56195342 17 43063368 55437 TCA T . . ALLELEID=70104;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43063370_43063371del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5275&base_change%3Ddel_TG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357895 17 43063369 184120 C A . . AF_EXAC=0.00001;ALLELEID=184884;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43063369C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2210145|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832482;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=28897697 17 43063369 548309 C CTATT . . ALLELEID=538771;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063369_43063370insTATT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555578407 17 43063370 266527 A AC . . ALLELEID=261598;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063374dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357743 17 43063370 55436 AC A . . ALLELEID=70103;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063374del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:7887702|Breast_Cancer_Information_Core__(BRCA1):5274&base_change%3Ddel_G;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357743 17 43063372 55434 C T . . ALLELEID=70101;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063372C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Genologica_Medica:GNL0023;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357239 17 43063373 55432 C T . . ALLELEID=70099;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063373C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=41293461 17 43063374 37643 C G . . ALLELEID=46199;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063374C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00144|Breast_Cancer_Information_Core__(BRCA1):5272-1&base_change%3DG_to_C;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358137 17 43063374 55429 C T . . ALLELEID=70096;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063374C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840404|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287470|Breast_Cancer_Information_Core__(BRCA1):5272-1&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358137 17 43063379 96941 G T . . AF_EXAC=0.00003;ALLELEID=102844;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43063379G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5272-6&base_change%3DC_to_A|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00145|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841665;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358129 17 43063386 125783 T C . . AF_EXAC=0.00003;ALLELEID=131321;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063386T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:202182|Breast_Cancer_Information_Core__(BRCA1):5272-13&base_change%3DA_to_G|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00143;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=45471406 17 43063685 264842 A AT . . ALLELEID=259552;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063689dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=542231412 17 43063788 125782 CA C . . ALLELEID=131320;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43063793del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5271+85&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176259 17 43063808 55428 C T . . AF_TGP=0.34245;ALLELEID=70095;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43063808C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17796|Breast_Cancer_Information_Core__(BRCA1):5271+66&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=3;RS=3092994 17 43063873 55423 C A . . ALLELEID=70090;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063873C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5271+1&base_change%3DG_to_T|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00142;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358094 17 43063875 55422 GA G . . ALLELEID=70089;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43063878del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1857434|Breast_Cancer_Information_Core__(BRCA1):5269&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357720 17 43063877 548266 A AG . . ALLELEID=538772;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063877_43063878insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555578542 17 43063878 55419 A C . . ALLELEID=70086;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063878A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509230 17 43063878 266526 A T . . ALLELEID=261599;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063878A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509230 17 43063880 125765 AG A . . ALLELEID=131303;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063881del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5264&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357870 17 43063882 55416 C T . . ALLELEID=70083;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063882C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=45444999 17 43063883 55414 T G . . ALLELEID=70081;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063883T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00051|UniProtKB_(protein):P38398#VAR_063906;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357222 17 43063884 240817 A C . . AF_EXAC=0.00001;ALLELEID=242761;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063884A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=749319480 17 43063888 55411 AC A . . ALLELEID=70078;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063891del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:815922|Breast_Cancer_Information_Core__(BRCA1):5256&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357997 17 43063890 55410 C T . . ALLELEID=70077;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43063890C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287440;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357418 17 43063891 230624 C T . . ALLELEID=235944;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063891C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876658672 17 43063892 254463 A AT . . ALLELEID=249080;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063896dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=730880288 17 43063892 180698 AT A . . ALLELEID=178861;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063896del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=730880288 17 43063895 266525 T A . . ALLELEID=261600;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063895T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040272 17 43063896 431187 TC T . . ALLELEID=424711;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063898del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401829 17 43063898 55409 C A . . ALLELEID=70076;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063898C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509229 17 43063899 55408 TC T . . ALLELEID=70075;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43063902del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5245&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357874 17 43063902 378958 C T . . ALLELEID=375974;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43063902C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850281;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1057520432 17 43063902 254462 CG C . . ALLELEID=249081;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063903del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038040 17 43063903 55407 G T . . ALLELEID=70074;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43063903G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2437519|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00045|Genologica_Medica:GNL0022|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1829675|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287428|UniProtKB_(protein):P38398#VAR_007796|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2362238;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=28897696 17 43063904 266524 CAATTCCTA C . . ALLELEID=261601;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063905_43063912del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040271 17 43063909 55406 C G . . AF_ESP=0.00008;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=70073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43063909C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00109|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.5117G>C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2587292|UniProtKB_(protein):P38398#VAR_070502;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356860 17 43063909 37638 C T . . ALLELEID=46194;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43063909C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00048|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841484|UniProtKB_(protein):P38398#VAR_063905;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356860 17 43063911 427358 T G . . AF_EXAC=0.00001;ALLELEID=416429;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063911T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=772885662 17 43063913 55405 G A . . ALLELEID=70072;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063913G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5232&base_change%3DC_to_T;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356858 17 43063913 55404 GA G . . ALLELEID=70071;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063917del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2071378;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509228 17 43063917 55403 A C . . ALLELEID=70070;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063917A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287422|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2701188;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356974 17 43063917 240815 A G . . ALLELEID=242763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063917A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356974 17 43063919 55402 AT A . . ALLELEID=70069;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43063922del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:767645|Breast_Cancer_Information_Core__(BRCA1):5225&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357553 17 43063922 55401 TCA T . . AF_EXAC=0.00001;ALLELEID=70068;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43063923_43063924del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5221&base_change%3Ddel_TG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357608 17 43063923 548191 CA C . . ALLELEID=538773;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063924del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555578613 17 43063926 184204 T C . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=184887;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43063926T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2378529;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=45519437 17 43063927 125763 GT G . . ALLELEID=131301;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43063928del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5217&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=483353099 17 43063930 37636 C T . . AF_EXAC=0.00002;ALLELEID=46192;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43063930C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.5096G>A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2263773|OMIM_Allelic_Variant:113705.0037|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287404|UniProtKB_(protein):P38398#VAR_070501;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=41293459 17 43063931 55396 G A . . AF_ESP=0.00008;ALLELEID=70063;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221560|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Ovarian_cancer|Fanconi_anemia,_complementation_group_A|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and_colorectal_cancer|not_provided;CLNHGVS=NC_000017.11:g.43063931G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_163|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00046|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287398|UniProtKB_(protein):P38398#VAR_075666|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830448|OMIM_Allelic_Variant:113705.0040|Genologica_Medica:GNL0021;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=13;RS=55770810 17 43063931 55395 G T . . ALLELEID=70062;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43063931G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2837501;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=55770810 17 43063932 184426 T C . . AF_EXAC=0.00004;ALLELEID=184888;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43063932T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=764891781 17 43063933 55394 TCA T . . ALLELEID=70061;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063934CA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5210&base_change%3Ddel_TG|Invitae:4941604;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357710 17 43063934 431272 CA C . . ALLELEID=424791;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063935del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401882 17 43063937 55392 A G . . ALLELEID=70059;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063937A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_020702;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356993 17 43063938 240814 C T . . ALLELEID=242764;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43063938C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=878854956 17 43063940 55388 CAA C . . ALLELEID=70055;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43063942_43063943del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5203&base_change%3Ddel_TT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357760 17 43063941 548238 A AC . . ALLELEID=538774;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063941_43063942insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555578648 17 43063942 266523 A AC . . ALLELEID=261602;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063942_43063943insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040270 17 43063946 55387 C A . . ALLELEID=70054;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43063946C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287380;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356896 17 43063947 55384 AGCAT A . . ALLELEID=70051;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43063948_43063951del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509223 17 43063949 266522 CA C . . ALLELEID=261603;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43063950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040269 17 43064004 125760 G A . . AF_ESP=0.01708;AF_TGP=0.01098;ALLELEID=131298;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43064004G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5194-53&base_change%3DC_to_T;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176258 17 43064188 209322 G T . . AF_TGP=0.29094;ALLELEID=206280;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43064188G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176257 17 43064189 209323 T C . . AF_TGP=0.03355;ALLELEID=206281;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43064189T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176256 17 43064324 209324 G A . . AF_TGP=0.11522;ALLELEID=206282;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43064324G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176255 17 43064327 209325 G A . . AF_TGP=0.01038;ALLELEID=206283;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43064327G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176254 17 43064696 209326 T A . . AF_TGP=0.00819;ALLELEID=206284;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43064696T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176252 17 43064916 209327 T C . . AF_TGP=0.33966;ALLELEID=206285;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43064916T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3785546 17 43065024 209328 G T . . AF_TGP=0.01018;ALLELEID=206286;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065024G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176250 17 43065086 209329 C T . . AF_TGP=0.01238;ALLELEID=206287;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065086C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176248 17 43065089 209330 CA C . . ALLELEID=206288;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065092del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176247 17 43065094 209331 C T . . AF_TGP=0.01238;ALLELEID=206289;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065094C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176246 17 43065363 209332 A G . . AF_TGP=0.01697;ALLELEID=206290;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065363A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176245 17 43065497 209333 T C . . AF_TGP=0.01558;ALLELEID=206291;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065497T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176244 17 43065535 209334 A C . . AF_TGP=0.03235;ALLELEID=206292;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065535A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176243 17 43065857 209335 C T . . AF_TGP=0.33586;ALLELEID=206293;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065857C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176242 17 43065990 264815 T C . . AF_TGP=0.00479;ALLELEID=259553;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43065990T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139038134 17 43066220 264858 T C . . AF_TGP=0.00499;ALLELEID=259554;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066220T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145654477 17 43066316 209336 G A . . AF_TGP=0.35363;ALLELEID=206294;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066316G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4793194 17 43066355 209337 A G . . AF_TGP=0.01797;ALLELEID=206295;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066355A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176240 17 43066409 209338 G C . . AF_TGP=0.00339;ALLELEID=206296;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066409G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176239 17 43066450 209339 C T . . AF_TGP=0.00499;ALLELEID=206297;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066450C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=112966361 17 43066555 209340 T C . . AF_TGP=0.33586;ALLELEID=206298;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066555T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4793195 17 43066598 209341 A C . . AF_TGP=0.00240;ALLELEID=206299;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066598A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142829210 17 43066690 264837 C G . . AF_TGP=0.00559;ALLELEID=259555;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066690C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176238 17 43066690 209342 C T . . AF_TGP=0.01398;ALLELEID=206300;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066690C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176238 17 43066699 209343 G A . . AF_TGP=0.00399;ALLELEID=206301;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066699G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139793550 17 43066730 209344 C T . . AF_TGP=0.06430;ALLELEID=206302;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066730C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176237 17 43066788 209345 A G . . AF_TGP=0.11542;ALLELEID=206303;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066788A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176236 17 43066848 264788 C T . . AF_TGP=0.00779;ALLELEID=259556;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43066848C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=533045755 17 43067324 127127 G T . . AF_TGP=0.25280;ALLELEID=132630;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43067324G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=3;RS=11654396 17 43067343 209346 C T . . AF_TGP=0.01118;ALLELEID=206304;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43067343C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147144902 17 43067380 209347 G A . . AF_TGP=0.01018;ALLELEID=206305;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43067380G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=71379207 17 43067387 209348 T C . . AF_TGP=0.00220;ALLELEID=206306;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067387T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142117419 17 43067403 209349 C T . . AF_TGP=0.00499;ALLELEID=206307;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43067403C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113814958 17 43067543 127126 C T . . AF_TGP=0.30691;ALLELEID=132629;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43067543C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=3;RS=8176235 17 43067602 91636 G C . . AF_ESP=0.00008;AF_EXAC=0.00006;ALLELEID=97113;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43067602G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5193+6&base_change%3DC_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358032 17 43067606 37631 A G . . ALLELEID=46187;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43067606A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5193+2&base_change%3DT_to_C|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287344;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358089 17 43067607 37630 C A . . ALLELEID=46186;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067607C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5193+1&base_change%3DG_to_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287338;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358053 17 43067607 37629 C T . . ALLELEID=46185;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067607C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00122|Breast_Cancer_Information_Core__(BRCA1):5193+1&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358053 17 43067607 266506 CCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCAT C . . ALLELEID=261604;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067611_43067698del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;ORIGIN=1 17 43067608 37633 C G . . AF_EXAC=0.00001;ALLELEID=46189;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067608C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2455810;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80187739 17 43067609 55374 T C . . ALLELEID=70041;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067609T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356853 17 43067610 55372 G GT . . ALLELEID=70039;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067614dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5190&base_change%3Dins_A|Invitae:4941629;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357672 17 43067614 37626 T A . . ALLELEID=46182;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43067614T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397507239 17 43067616 266521 A AT . . ALLELEID=261605;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067617dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040268 17 43067617 55368 TAAC T . . ALLELEID=70035;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43067619ACA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1300537;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001822|inframe_deletion;ORIGIN=1;RS=80358344 17 43067622 548270 A AGTTG . . ALLELEID=538775;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067622_43067623insGTTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555579630 17 43067623 266520 C CGTTG . . ALLELEID=261606;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067623_43067624insGTTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040267 17 43067624 246021 A ATGAG . . ALLELEID=245023;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43067626_43067629dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879254050 17 43067625 125756 T TG . . ALLELEID=131294;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067626dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5175&base_change%3Dins_C|Invitae:8115008;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357974 17 43067628 55365 G A . . ALLELEID=70032;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067628G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_063903|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00050;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357043 17 43067629 55364 T C . . ALLELEID=70031;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067629T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_063902|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00042;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356890 17 43067630 380856 A G . . AF_EXAC=0.00001;ALLELEID=375977;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43067630A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=760922019 17 43067630 431271 AG A . . ALLELEID=424792;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067631del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401881 17 43067630 252385 AGT A . . ALLELEID=246811;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43067631_43067632del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255283 17 43067634 266519 TCTTC A . . ALLELEID=261607;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067634_43067638delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040266 17 43067635 55363 C A . . ALLELEID=70030;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067635C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287308;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356879 17 43067638 548318 C CATTA . . ALLELEID=538776;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067639_43067640insTTAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555579675 17 43067638 55361 C T . . ALLELEID=70028;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43067638C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00092;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356958 17 43067639 266518 AG A . . ALLELEID=261609;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43067640del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040265 17 43067640 266516 G GTAAT . . ALLELEID=261610;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067643_43067646dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555579686 17 43067640 266517 G GTTAA . . ALLELEID=261608;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067641_43067642insTAAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040264 17 43067641 55360 TA T . . ALLELEID=70027;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067643del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5159&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357673 17 43067641 431358 TAA T . . ALLELEID=424883;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067642_43067643del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723017;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401935 17 43067642 37624 AATTAG A . . ALLELEID=46180;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067643ATTAG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5154&base_change%3Ddel_CTAAT|Invitae:1349813;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357623 17 43067645 427353 T C . . AF_EXAC=0.00002;ALLELEID=416430;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067645T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=754256578 17 43067645 55356 TAGATTAGTTAA T . . ALLELEID=70023;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067648_43067658del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5145&base_change%3Ddel_TTAACTAATCT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357894 17 43067646 55358 AG A . . ALLELEID=70025;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43067647del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5154&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357896 17 43067648 266515 A ATTAG . . ALLELEID=261611;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067652_43067655dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001821|inframe_insertion;ORIGIN=1;RS=80357580 17 43067648 37623 ATTAG A . . ALLELEID=46179;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43067652_43067655del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5146&base_change%3Ddel_TAAC|Invitae:577893|Breast_Cancer_Information_Core__(BRCA1):5149&base_change%3Ddel_CTAA|Breast_Cancer_Information_Core__(BRCA1):5147&base_change%3Ddel_AACT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357580 17 43067650 254461 TAGTTA T . . ALLELEID=249082;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067652_43067656del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=431825410 17 43067651 427338 A T . . AF_EXAC=0.00002;ALLELEID=416431;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067651A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=765241963 17 43067654 427274 T C . . ALLELEID=416432;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067654T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1064793596 17 43067654 55357 T TA . . ALLELEID=70024;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067657dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509217 17 43067654 266512 TA T . . ALLELEID=261614;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067657del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509217 17 43067654 266511 TAA T . . ALLELEID=261613;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067656_43067657del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509217 17 43067655 187466 A C . . ALLELEID=184889;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43067655A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786203754 17 43067655 266513 A T . . ALLELEID=261612;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067655A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786203754 17 43067657 229833 A G . . ALLELEID=235948;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067657A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855315|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:196597;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876658226 17 43067658 240811 G A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=242767;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067658G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2778050;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=150729791 17 43067660 187617 G A . . ALLELEID=184890;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43067660G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778971;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786203868 17 43067662 266510 TG T . . ALLELEID=261615;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43067663del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040260 17 43067668 266509 G GT . . ALLELEID=261616;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067672dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040259 17 43067672 427336 T C . . AF_EXAC=0.00001;ALLELEID=416433;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067672T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=777828258 17 43067673 548322 C CG . . ALLELEID=538777;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067673_43067674insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555579738 17 43067674 266507 T TGGCAAACTTGTAC . . ALLELEID=261617;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067675_43067687dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555579747 17 43067675 427317 G A . . AF_EXAC=0.00001;ALLELEID=416434;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43067675G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=751856943 17 43067676 55354 GC G . . ALLELEID=70021;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067677del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5124&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357938 17 43067683 55353 T A . . ALLELEID=70020;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067683T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357204 17 43067684 187169 G A . . ALLELEID=184891;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43067684G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=730882165 17 43067684 231083 G GT . . ALLELEID=235949;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067685dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:3382796;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876658947 17 43067684 409305 G GTA . . ALLELEID=402044;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067685_43067686dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555579782 17 43067684 183178 G T . . ALLELEID=181315;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43067684G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=730882165 17 43067690 136551 G A . . AF_ESP=0.00062;AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=140254;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43067690G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=142459158 17 43067691 37621 A G . . AF_EXAC=0.00001;ALLELEID=46177;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43067691A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2529696|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00131;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357314 17 43067694 267569 AT A . . ALLELEID=262944;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43067695del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040912 17 43067696 182165 C T . . ALLELEID=180825;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43067696C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=730881495 17 43067697 55345 T C . . ALLELEID=70012;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43067697T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=397509212 17 43067715 91635 T C . . AF_ESP=0.00223;AF_EXAC=0.00070;AF_TGP=0.00240;ALLELEID=97112;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided;CLNHGVS=NC_000017.11:g.43067715T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00140|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:180262|Breast_Cancer_Information_Core__(BRCA1):5106-20&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358035 17 43067763 125746 T C . . AF_TGP=0.35463;ALLELEID=131284;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43067763T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5106-68&base_change%3DG_to_A|Breast_Cancer_Information_Core__(BRCA1):5106-68&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176234 17 43067787 125749 T C . . AF_TGP=0.35463;ALLELEID=131287;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43067787T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5106-92&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176233 17 43068206 209350 A G . . AF_TGP=0.35503;ALLELEID=206308;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43068206A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176231 17 43068271 209351 C T . . AF_TGP=0.00879;ALLELEID=206309;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43068271C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176229 17 43068303 209352 C A . . AF_TGP=0.04213;ALLELEID=206310;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43068303C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176228 17 43068755 209353 C T . . AF_TGP=0.00539;ALLELEID=206311;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43068755C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145869415 17 43069161 209354 C T . . AF_TGP=0.01018;ALLELEID=206312;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43069161C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176226 17 43069579 209355 C A . . AF_TGP=0.01797;ALLELEID=206313;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43069579C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176225 17 43070082 209356 C T . . AF_TGP=0.03355;ALLELEID=206314;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070082C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176222 17 43070444 209357 T A . . AF_TGP=0.00998;ALLELEID=206315;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070444T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176221 17 43070445 209358 A G . . AF_TGP=0.35583;ALLELEID=206316;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070445A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176220 17 43070706 209359 T C . . AF_TGP=0.33746;ALLELEID=206317;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43070706T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3092987 17 43070922 55344 A C . . AF_EXAC=0.00001;ALLELEID=70011;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43070922A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287266|Breast_Cancer_Information_Core__(BRCA1):5105+6&base_change%3DT_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358086 17 43070929 55339 A G . . AF_EXAC=0.00001;ALLELEID=70006;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43070929A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00091;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=28897695 17 43070929 17679 AATTCTTCTGGGGTCAGGCC A . . ALLELEID=32718;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070931_43070949del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:113705.0020|Breast_Cancer_Information_Core__(BRCA1):5085&base_change%3Ddel_19;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80359884 17 43070931 37616 TTCTTCTGGGGTCAGGCCAG T . . AF_EXAC=0.00001;ALLELEID=46172;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43070932_43070950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459244|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287236|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2501038|Breast_Cancer_Information_Core__(BRCA1):5083&base_change%3Ddel_19|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1971545|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_16443_16856_1;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80359876 17 43070933 55338 C A . . ALLELEID=70005;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43070933C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357401 17 43070934 55334 TTCTGGGGTCAGGCCAG T . . ALLELEID=70001;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070935_43070950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509209 17 43070937 427277 T G . . ALLELEID=416435;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070937T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692087 17 43070937 252399 TG T . . ALLELEID=246812;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43070941del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255295 17 43070941 417822 GT G . . ALLELEID=404711;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070942del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1060505044 17 43070943 219576 C G . . ALLELEID=222652;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43070943C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202058 17 43070943 185288 C T . . ALLELEID=184892;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43070943C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202058 17 43070944 254460 AG A . . ALLELEID=249083;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070946del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038038 17 43070952 427359 C T . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=416436;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43070952C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=549640262 17 43070955 240809 C T . . ALLELEID=242769;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43070955C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=878854955 17 43070958 41830 C T . . AF_ESP=0.01076;AF_EXAC=0.01762;AF_TGP=0.01118;ALLELEID=50269;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43070958C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23350|Illumina_Laboratory_Services,Illumina:52182|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459225|UniProtKB_(protein):P38398#VAR_007795|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_164|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00107;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1799967 17 43070959 37615 A G . . AF_EXAC=0.00002;ALLELEID=46171;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43070959A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00117;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356968 17 43070967 55327 TCT AAAA . . ALLELEID=69994;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43070967_43070969delinsAAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509207 17 43070968 55328 CT C . . ALLELEID=69995;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43070972del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5061&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80357655 17 43070968 125737 CTT C . . ALLELEID=131275;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070971_43070972del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5063&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357655 17 43070972 55326 TG T . . ALLELEID=69993;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43070973del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5060&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357905 17 43070972 266498 TGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA T . . ALLELEID=261618;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070975_43071056del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555580648 17 43070977 55322 AC A . . ALLELEID=69989;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43070980del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5053&base_change%3Ddel_G|Invitae:810826|Breast_Cancer_Information_Core__(BRCA1):5055&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357653 17 43070978 548310 C CTT . . ALLELEID=538778;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070978_43070979insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555580653 17 43070980 254459 C CTT . . ALLELEID=249084;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070982_43070983dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5052&base_change%3Dins_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357833 17 43070984 55317 C A . . ALLELEID=69984;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43070984C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509205 17 43070985 185238 T G . . ALLELEID=184893;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43070985T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202022 17 43070991 229900 A C . . ALLELEID=235951;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43070991A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876658258 17 43070992 266505 GC G . . ALLELEID=261619;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070993del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040257 17 43070994 431357 TGTCAATTCTGGCTTCTCCC T . . ALLELEID=424884;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43070995_43071013del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555580678 17 43071000 184003 T C . . ALLELEID=184894;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43071000T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201216 17 43071003 55315 TG T . . ALLELEID=69982;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43071005del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509204 17 43071004 55314 G A . . AF_EXAC=0.00002;ALLELEID=69981;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43071004G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00090|UniProtKB_(protein):P38398#VAR_007794;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357048 17 43071007 55312 TTC T . . ALLELEID=69979;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071008TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509203 17 43071010 433718 TC T . . ALLELEID=427539;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071013del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555580697 17 43071011 55311 C A . . ALLELEID=69978;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071011C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287212|Breast_Cancer_Information_Core__(BRCA1):5022&base_change%3DG_to_T;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=200432771 17 43071012 215875 C T . . ALLELEID=213307;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071012C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=746199881 17 43071017 254458 TCA T . . ALLELEID=249085;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071019AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038037 17 43071020 266503 CACTTTCT C . . ALLELEID=261620;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071021_43071027del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040255 17 43071021 55310 A G . . ALLELEID=69977;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071021A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356850 17 43071022 125733 C CT . . ALLELEID=131271;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071025dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):5010&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357656 17 43071022 266504 CT C . . ALLELEID=261621;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357656 17 43071024 252882 TTC T . . ALLELEID=247283;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071026_43071027del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255490 17 43071028 266502 T TC . . ALLELEID=261622;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43071030dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040254 17 43071028 55305 TCCATTGCATTATA T . . ALLELEID=69972;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071031_43071043del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509201 17 43071031 41828 A G . . AF_ESP=0.00031;AF_EXAC=0.00152;AF_TGP=0.00260;ALLELEID=50267;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43071031A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_007793|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778325|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00013|Illumina_Laboratory_Services,Illumina:140664|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2414386;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=4986854 17 43071035 266501 C CA . . ALLELEID=261623;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071036dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040253 17 43071036 266500 AT A . . ALLELEID=261624;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071038del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040252 17 43071039 266499 A T . . ALLELEID=261625;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071039A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040251 17 43071054 240808 A G . . AF_EXAC=0.00001;ALLELEID=242770;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43071054A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459196;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=750938749 17 43071063 186010 A G . . ALLELEID=184899;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071063A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202627 17 43071069 184340 A G . . AF_ESP=0.00008;ALLELEID=184900;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43071069A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=144588397 17 43071070 125732 G GC . . ALLELEID=131270;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071071dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4962&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357615 17 43071072 548257 T TG . . ALLELEID=538779;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071074dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555580813 17 43071074 55301 G A . . AF_ESP=0.00054;AF_EXAC=0.00021;AF_TGP=0.00040;ALLELEID=69968;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided;CLNHGVS=NC_000017.11:g.43071074G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2406677|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00089;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=70953660 17 43071075 55300 A AG . . ALLELEID=69967;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071075_43071076insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509200 17 43071076 55299 CT C . . ALLELEID=69966;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071077del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509199 17 43071076 180697 CT GGC . . ALLELEID=178862;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43071076_43071077delinsGGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2839927;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=730880287 17 43071077 41827 T C . . AF_ESP=0.29817;AF_TGP=0.35583;ALLELEID=50266;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43071077T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459177|HGMD:CM1210129|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00012|UniProtKB_(protein):P38398#VAR_007791|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17810|Illumina_Laboratory_Services,Illumina:19725;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=1799966 17 43071077 55298 T TC . . ALLELEID=69965;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43071078dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509198 17 43071078 441347 CTG C . . ALLELEID=435108;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071079_43071080del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555580840 17 43071079 266496 TG T . . ALLELEID=261626;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071082del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040249 17 43071080 185295 G A . . ALLELEID=184902;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071080G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287194;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786202064 17 43071081 55297 G A . . ALLELEID=69964;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071081G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4952&base_change%3DC_to_T;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356842 17 43071090 548218 T TC . . ALLELEID=538780;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071090_43071091insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555580865 17 43071098 37612 T C . . AF_EXAC=0.00002;ALLELEID=46168;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43071098T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_007790|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778887;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356943 17 43071101 55294 A G . . AF_ESP=0.00023;AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=69961;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43071101A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4932&base_change%3DT_to_C|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2656061;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356833 17 43071102 55293 T C . . AF_ESP=0.00138;AF_EXAC=0.00128;AF_TGP=0.00140;ALLELEID=69960;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43071102T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776545|Illumina_Laboratory_Services,Illumina:796656|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28554;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=28897693 17 43071104 55291 G A . . ALLELEID=69958;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071104G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357352 17 43071107 254457 GA G . . ALLELEID=249086;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071109del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941681;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038036 17 43071111 224436 T C . . ALLELEID=226193;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071111T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=886037794 17 43071113 55290 T A . . ALLELEID=69957;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071113T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287182;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357303 17 43071114 142334 C CA . . ALLELEID=152048;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071116dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587782392 17 43071116 427357 A G . . AF_EXAC=0.00003;ALLELEID=416437;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43071116A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853811;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=775837744 17 43071127 420037 G T . . ALLELEID=409959;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071127G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357429 17 43071129 266495 AG A . . ALLELEID=261627;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071130del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040248 17 43071132 231948 T C . . ALLELEID=235954;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071132T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876659455 17 43071135 37610 TATGT G . . ALLELEID=46166;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071135_43071139delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397507237 17 43071147 136550 A C . . ALLELEID=140253;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43071147A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=587780864 17 43071148 125730 CGA C . . ALLELEID=131268;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071150_43071151del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4883&base_change%3Ddel_TC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357795 17 43071149 55282 GA G . . ALLELEID=69949;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43071150del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509196 17 43071150 184874 A G . . AF_EXAC=0.00001;ALLELEID=184906;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071150A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=753651115 17 43071150 231038 A T . . ALLELEID=235955;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071150A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=753651115 17 43071154 55281 G C . . ALLELEID=69948;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43071154G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509195 17 43071154 548258 G GT . . ALLELEID=538781;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071154_43071155insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555580980 17 43071155 266494 A AT . . ALLELEID=261628;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071155_43071156insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040247 17 43071158 55280 CTG C . . ALLELEID=69947;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071159_43071160del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4873&base_change%3Ddel_CA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357837 17 43071162 184362 G A . . ALLELEID=184907;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071162G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201422 17 43071163 37609 GCT G . . ALLELEID=46165;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071164CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4868&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357641 17 43071168 55278 GT G . . ALLELEID=69945;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071169del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4864&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357907 17 43071170 266493 CT C . . ALLELEID=261629;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071172del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040246 17 43071171 186507 T C . . AF_EXAC=0.00001;ALLELEID=184908;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071171T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=397509194 17 43071173 55276 C A . . ALLELEID=69943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071173C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287170;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509193 17 43071174 427310 A G . . AF_EXAC=0.00001;ALLELEID=416438;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071174A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=777297026 17 43071177 240807 A G . . ALLELEID=242771;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43071177A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=878854954 17 43071189 240806 A C . . ALLELEID=242772;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43071189A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=878854953 17 43071189 55271 AG A . . ALLELEID=69938;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43071192del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4117486;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509191 17 43071197 55269 CAGAGA C . . ALLELEID=69936;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071202_43071206del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:203256|Breast_Cancer_Information_Core__(BRCA1):4831&base_change%3Ddel_TCTCT|Invitae:4941693;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357718 17 43071201 224424 GA G . . ALLELEID=226195;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071203del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037790 17 43071204 184980 G A . . ALLELEID=184909;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071204G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846557;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201839 17 43071204 219511 G GA . . ALLELEID=222653;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071205dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=864622132 17 43071204 266492 GAGGCTGATTC T . . ALLELEID=261630;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071204_43071214delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040245 17 43071205 266491 AGGCTGATTCC A . . ALLELEID=261631;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071206_43071215del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040244 17 43071209 252434 T TGATTCCA . . ALLELEID=246846;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43071211ATTCCAG[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255318 17 43071216 548276 A AT . . ALLELEID=538782;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071216_43071217insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555581078 17 43071217 125728 G GT . . ALLELEID=131266;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071217_43071218insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4815&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=483353095 17 43071218 55263 A AT . . ALLELEID=69930;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071220dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509189 17 43071223 55262 A G . . AF_ESP=0.00046;AF_EXAC=0.00012;AF_TGP=0.00120;ALLELEID=69929;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43071223A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00023;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=56119278 17 43071225 37607 G C . . ALLELEID=46163;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43071225G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2426034|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_174|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287140|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1777085|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:93567;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357433 17 43071225 266490 G GT . . ALLELEID=261632;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071226dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4941697;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040243 17 43071228 55260 AGG A . . ALLELEID=69927;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071231_43071232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509188 17 43071231 230952 G A . . ALLELEID=235958;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43071231G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=878853265 17 43071232 55258 GT G . . ALLELEID=69925;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071234del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509187 17 43071234 430604 TCC T . . ALLELEID=423252;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071236_43071237del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555581104 17 43071236 55257 C A . . ALLELEID=69924;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43071236C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287134;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357349 17 43071239 125725 C T . . ALLELEID=131263;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43071239C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4795-1&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358008 17 43071293 264790 G A . . AF_TGP=0.00280;ALLELEID=259557;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43071293G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=545107728 17 43071521 264795 G GAATGTTCACTGTAACAATGCTTGT . . ALLELEID=259558;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43071524_43071525insGTTCACTGTAACAATGCTTGTAAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176218 17 43072014 209360 AT A . . AF_TGP=0.01757;ALLELEID=206318;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43072015del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200424092 17 43072249 209361 C T . . AF_TGP=0.00260;ALLELEID=206319;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43072249C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183687995 17 43072263 209362 C T . . AF_TGP=0.01138;ALLELEID=206320;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43072263C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=138082324 17 43072816 209363 G C . . AF_TGP=0.33646;ALLELEID=206321;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43072816G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111499627 17 43072875 264848 G GT . . ALLELEID=259559;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43072890dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=533819030 17 43072939 264784 A T . . AF_TGP=0.01458;ALLELEID=259560;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43072939A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=191530878 17 43073428 209364 G A . . AF_TGP=0.03115;ALLELEID=206322;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43073428G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=74877299 17 43073637 209365 TA T . . ALLELEID=206323;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43073645del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=5820482 17 43073750 209366 A G . . AF_TGP=0.03275;ALLELEID=206324;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43073750A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176217 17 43073762 209367 A T . . AF_TGP=0.00479;ALLELEID=206325;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43073762A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182629224 17 43073764 209368 A T . . AF_TGP=0.32987;ALLELEID=206326;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43073764A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176216 17 43073766 209369 A T . . AF_TGP=0.38259;ALLELEID=206327;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43073766A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176215 17 43073768 209370 T A . . AF_TGP=0.00300;ALLELEID=206328;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43073768T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=190123841 17 43073822 209371 T C . . AF_TGP=0.35483;ALLELEID=206329;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43073822T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176214 17 43074016 209372 T G . . AF_TGP=0.00160;ALLELEID=206330;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074016T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2236763 17 43074226 209373 C T . . AF_TGP=0.00359;ALLELEID=206331;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43074226C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176213 17 43074328 125722 T A . . ALLELEID=131260;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074328T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4794+3&base_change%3DA_to_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287116;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358082 17 43074330 55256 C T . . ALLELEID=69923;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43074330C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_351|Breast_Cancer_Information_Core__(BRCA1):4794+1&base_change%3DG_to_A|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00127|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287104;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358044 17 43074331 37604 C T . . ALLELEID=46160;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074331C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852413|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287128;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356988 17 43074331 267552 CT C . . ALLELEID=262954;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074332del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040911 17 43074332 231678 TAGATCTTGCCTTGGCAAGTA T . . ALLELEID=235959;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074337_43074356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876659293 17 43074337 266489 C CT . . ALLELEID=261633;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074339dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040242 17 43074340 433717 G A . . ALLELEID=427541;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43074340G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555581812 17 43074340 55250 GCCTTGGCAAGTAAGATGTTT G . . ALLELEID=69917;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074343_43074362del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509186 17 43074341 240805 C T . . ALLELEID=242773;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074341C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=878854952 17 43074347 55252 CAAGT C . . ALLELEID=69919;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074351_43074354del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3956218|Breast_Cancer_Information_Core__(BRCA1):4774&base_change%3Ddel_ACTT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357561 17 43074349 427315 A G . . ALLELEID=416439;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43074349A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80357431 17 43074350 55253 G C . . ALLELEID=69920;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074350G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287092;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80357151 17 43074350 141960 G GT . . ALLELEID=151674;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074351dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587782143 17 43074353 136549 A G . . AF_EXAC=0.00002;ALLELEID=140252;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43074353A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2415613;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=587780863 17 43074356 230516 T C . . ALLELEID=235960;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074356T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876658608 17 43074362 184245 C T . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=184913;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43074362C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2574852;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=28897692 17 43074370 55246 C A . . ALLELEID=69913;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43074370C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00088;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=28897691 17 43074370 55245 C T . . AF_ESP=0.00015;AF_TGP=0.00020;ALLELEID=69912;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided;CLNHGVS=NC_000017.11:g.43074370C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:149232|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00022|Illumina_Laboratory_Services,Illumina:609426|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_356;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=28897691 17 43074371 377572 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=378236;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43074371G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2756619|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:85969;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=373686790 17 43074379 55243 CAG C . . ALLELEID=69910;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074381_43074382del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2799984|Breast_Cancer_Information_Core__(BRCA1):4744&base_change%3Ddel_CT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357542 17 43074380 185749 A G . . ALLELEID=184914;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074380A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202425 17 43074382 266488 ACT A . . ALLELEID=261634;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074383CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040241 17 43074385 55241 C A . . ALLELEID=69908;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074385C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357248 17 43074385 266487 CTTC TTT . . ALLELEID=261635;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074385_43074388delinsTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040240 17 43074388 55240 C A . . ALLELEID=69907;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074388C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357277 17 43074393 548250 T TC . . ALLELEID=538784;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074393_43074394insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555581879 17 43074394 55239 G A . . ALLELEID=69906;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074394G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854358;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356992 17 43074394 55238 G GC . . ALLELEID=69905;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074394_43074395insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287080|Breast_Cancer_Information_Core__(BRCA1):4730&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357915 17 43074395 548194 T TGG . . ALLELEID=538785;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074395_43074396insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555581882 17 43074396 254456 T TGG . . ALLELEID=249087;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074397_43074398insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038035 17 43074397 55237 G A . . ALLELEID=69904;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074397G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287074;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=5;RS=80357229 17 43074403 55236 C A . . ALLELEID=69903;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43074403C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287068;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357366 17 43074406 55235 C T . . AF_ESP=0.00185;AF_EXAC=0.00051;AF_TGP=0.00160;ALLELEID=69902;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43074406C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM045533|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00029|UniProtKB_(protein):P38398#VAR_070492|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:28833;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=55815649 17 43074407 427286 A G . . ALLELEID=416440;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43074407A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692095 17 43074409 548312 C CAG . . ALLELEID=538786;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074410_43074411insGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555581894 17 43074410 55234 A AAG . . ALLELEID=69901;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074411_43074412insGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4713&base_change%3Dins_TC|Breast_Cancer_Information_Core__(BRCA1):4714&base_change%3Dins_CT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357699 17 43074412 266486 C CA . . ALLELEID=261636;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074414dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040239 17 43074414 266485 AC A . . ALLELEID=261637;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074416del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040238 17 43074415 96935 CCTTA C . . ALLELEID=102838;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074416_43074419del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=431825409 17 43074420 55230 ATGAGCTCCTCT A . . ALLELEID=69897;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074425_43074435del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509184 17 43074422 427268 G A . . ALLELEID=416441;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074422G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692080 17 43074430 236272 C A . . ALLELEID=237831;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074430C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=878853294 17 43074430 55229 CTT C . . ALLELEID=69896;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43074431_43074432del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2465245|Breast_Cancer_Information_Core__(BRCA1):4693&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357813 17 43074433 266484 G A . . ALLELEID=261638;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074433G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040237 17 43074433 266483 GAGAT G . . ALLELEID=261639;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074434_43074437del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040236 17 43074434 548185 A AGG . . ALLELEID=538787;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074435_43074436insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555581948 17 43074435 236271 GA G . . ALLELEID=237832;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074436del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=878853293 17 43074436 266482 A AGG . . ALLELEID=261640;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074436_43074437insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040235 17 43074440 266481 G C . . ALLELEID=261641;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074440G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040234 17 43074440 266480 G T . . ALLELEID=261642;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074440G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040234 17 43074446 427304 T C . . AF_EXAC=0.00001;ALLELEID=416442;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074446T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=761293595 17 43074449 231584 A G . . ALLELEID=235964;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074449A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876659243 17 43074452 186022 C T . . ALLELEID=184917;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43074452C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202635 17 43074454 55226 G A . . ALLELEID=69893;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074454G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356881 17 43074461 184771 C A . . ALLELEID=184918;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074461C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=755731300 17 43074461 427351 C T . . AF_EXAC=0.00001;ALLELEID=416443;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074461C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=755731300 17 43074470 55225 ACT A . . ALLELEID=69892;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43074471_43074472del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509183 17 43074471 41826 C A . . AF_ESP=0.00277;AF_EXAC=0.00215;AF_TGP=0.00060;ALLELEID=50265;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43074471C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775320|UniProtKB_(protein):P38398#VAR_007788|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:66112|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459158|Illumina_Laboratory_Services,Illumina:117832|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287038|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00016;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1800744 17 43074471 55223 CTG C . . ALLELEID=69890;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43074472TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4652&base_change%3Ddel_CA|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1189|Invitae:4941718;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357534 17 43074473 440477 G GT . . ALLELEID=432897;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43074474dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555582009 17 43074477 55222 AT A . . ALLELEID=69889;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074478del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509182 17 43074479 266479 G T . . ALLELEID=261643;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43074479G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040233 17 43074480 419633 TACC CTCATCTAATGATGGGCA . . ALLELEID=409964;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43074480_43074483delinsCTCATCTAATGATGGGCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1064794004 17 43074482 55221 C T . . ALLELEID=69888;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43074482C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2567731|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287032|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2222358;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356885 17 43074483 186016 C T . . ALLELEID=184919;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074483C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786202631 17 43074486 41825 C G . . AF_EXAC=0.00002;ALLELEID=50264;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43074486C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357470 17 43074488 427363 A G . . AF_TGP=0.00020;ALLELEID=416444;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074488A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=73983787 17 43074489 55220 TC T . . ALLELEID=69887;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074490del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4635&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273900736 17 43074494 431264 TAATGA T . . ALLELEID=424799;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074495_43074499del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401877 17 43074498 440476 G C . . ALLELEID=432898;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43074498G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357437 17 43074498 55219 G T . . AF_EXAC=0.00001;ALLELEID=69886;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074498G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287026|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2718794;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357437 17 43074500 427295 T C . . AF_EXAC=0.00001;ALLELEID=416445;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074500T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=778400777 17 43074503 240804 G A . . AF_EXAC=0.00001;ALLELEID=242774;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43074503G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=747539984 17 43074503 266478 G T . . ALLELEID=261644;CLNDISDB=Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Ovarian_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074503G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=747539984 17 43074512 91631 AG A . . ALLELEID=97108;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43074516del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775641;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=398122687 17 43074519 55216 G C . . ALLELEID=69883;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43074519G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287014;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356953 17 43074519 55215 G T . . ALLELEID=69882;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43074519G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80356953 17 43074522 246501 C A . . ALLELEID=245028;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43074522C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358189 17 43074584 209374 G C . . AF_TGP=0.35344;ALLELEID=206332;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43074584G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4604-63&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=273900734 17 43074658 209375 A T . . AF_TGP=0.50240;ALLELEID=206333;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43074658A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2236762 17 43074719 209376 GGGGTT G . . ALLELEID=206334;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43074722GTTGG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34250703 17 43074861 209377 C T . . AF_TGP=0.00659;ALLELEID=206335;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074861C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176209 17 43074920 264821 AGAAAGAAAGGAAAG A . . ALLELEID=259561;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43074921GAAAGAAAGGAAAG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=566416929 17 43075066 209378 C CGGAA . . ALLELEID=206336;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43075067GGAA[6];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176207 17 43075589 209379 G A . . AF_TGP=0.00260;ALLELEID=206337;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43075589G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=181392764 17 43076025 209380 G A . . AF_TGP=0.00140;ALLELEID=206338;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076025G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56295923 17 43076103 209381 T C . . AF_TGP=0.01038;ALLELEID=206339;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076103T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176206 17 43076474 55210 T C . . AF_EXAC=0.00079;AF_TGP=0.00220;ALLELEID=69877;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43076474T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:697996|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:63504|Breast_Cancer_Information_Core__(BRCA1):4603+14&base_change%3DA_to_G|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:462070;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358022 17 43076486 55211 AC A . . ALLELEID=69878;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076488del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4258299;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397509181 17 43076487 188413 CCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTG C . . ALLELEID=186541;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076492_43076618del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778678;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 17 43076488 245697 C G . . ALLELEID=245029;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43076488C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357389 17 43076488 254455 CT C . . ALLELEID=249088;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43076491del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357854 17 43076488 37595 CTT C . . ALLELEID=46151;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43076490_43076491del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4601&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357854 17 43076492 55209 C A . . ALLELEID=69876;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076492C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357148 17 43076497 266477 CCTGGTTCTTTATTTTTACTGGT C . . ALLELEID=261645;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076498_43076519del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286984;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040232 17 43076498 216105 C A . . ALLELEID=213312;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076498C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=863224511 17 43076504 162502 C A . . AF_ESP=0.00008;ALLELEID=172180;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43076504C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851259;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=138608489 17 43076508 125712 A AT . . ALLELEID=131250;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076513dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4582&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357620 17 43076514 55205 AC A . . ALLELEID=69872;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076515del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509180 17 43076515 55204 CT C . . ALLELEID=69871;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076516del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509179 17 43076516 55202 TGGTA T . . ALLELEID=69869;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43076518_43076521del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509178 17 43076524 55200 CT C . . ALLELEID=69867;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43076525del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509177 17 43076536 55199 AC A . . ALLELEID=69866;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076538del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509176 17 43076540 232619 C A . . ALLELEID=235966;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43076540C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876659878 17 43076544 37592 C CT . . ALLELEID=46148;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076546dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397507231 17 43076550 185731 A G . . AF_EXAC=0.00002;ALLELEID=184922;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43076550A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=756281673 17 43076553 182096 A T . . ALLELEID=180830;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43076553A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841903;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=730881455 17 43076554 266476 GA G . . ALLELEID=261646;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076557del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040231 17 43076555 55197 AA C . . ALLELEID=69864;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076555_43076556delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509174 17 43076556 427342 A G . . AF_EXAC=0.00001;ALLELEID=416446;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076556A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=780239567 17 43076559 427349 G A . . AF_EXAC=0.00001;ALLELEID=416447;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076559G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=749522068 17 43076559 419556 GC G . . ALLELEID=409966;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43076561del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6587439;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1064793951 17 43076564 266475 C A . . ALLELEID=261647;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43076564C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040230 17 43076569 55188 TTCTGGCTTATAG AA . . ALLELEID=69855;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076569_43076581delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4510&base_change%3Ddel_13_ins_TT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273900731 17 43076570 55193 T G . . ALLELEID=69860;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43076570T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841433|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00087;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357022 17 43076570 141260 TC T . . ALLELEID=150974;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43076571del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587781611 17 43076573 55191 G A . . ALLELEID=69858;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43076573G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286954;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509171 17 43076573 548299 G GT . . ALLELEID=538788;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076573_43076574insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555582663 17 43076574 266474 G GT . . ALLELEID=261648;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076574_43076575insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040229 17 43076577 548269 T TA . . ALLELEID=538789;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076578dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555582670 17 43076578 37590 AT A . . ALLELEID=46146;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076579del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397507230 17 43076579 252380 T TAGGG . . ALLELEID=246817;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076580_43076583dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255282 17 43076579 418999 TA T . . ALLELEID=409968;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43076580del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4750181;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1064793577 17 43076579 37588 TAG AA . . ALLELEID=46144;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43076579_43076581delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4510&base_change%3Ddel_CTA_ins_TT|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775677;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273900730 17 43076580 55189 A AG . . ALLELEID=69856;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43076583dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357916 17 43076580 194243 A T . . ALLELEID=191406;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43076580A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=794727102 17 43076580 37589 AG A . . ALLELEID=46145;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43076583del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4510&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357916 17 43076582 55184 GGTATTCACTACTTTTCT G . . ALLELEID=69851;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076585_43076601del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4491&base_change%3Ddel_17;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80359885 17 43076583 142836 G C . . ALLELEID=152550;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43076583G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356997 17 43076583 55187 G T . . ALLELEID=69854;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43076583G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356997 17 43076584 37586 TA T . . ALLELEID=46142;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43076585del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397507229 17 43076585 188414 A AT . . ALLELEID=186542;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43076587dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776784;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786204267 17 43076592 186631 A G . . ALLELEID=184923;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43076592A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786203100 17 43076592 186693 AC A . . ALLELEID=184924;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43076593del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786203149 17 43076597 266473 T A . . ALLELEID=261649;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076597T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040228 17 43076598 252433 CTG C . . ALLELEID=246847;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43076599TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255317 17 43076600 55183 G A . . ALLELEID=69850;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43076600G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4491&base_change%3DC_to_T;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80356932 17 43076602 55182 G C . . ALLELEID=69849;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076602G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357130 17 43076602 240803 G T . . ALLELEID=242775;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43076602G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357130 17 43076608 266472 A C . . ALLELEID=261650;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43076608A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040227 17 43077335 264802 C CT . . ALLELEID=259562;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077348dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=68171917 17 43077369 209382 T C . . AF_TGP=0.35383;ALLELEID=206340;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077369T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12940378 17 43077743 209383 AT A . . ALLELEID=206341;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077751del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176205 17 43077746 264793 T A . . AF_TGP=0.35423;ALLELEID=259563;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077746T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176204 17 43077756 264844 T C . . AF_TGP=0.35363;ALLELEID=259564;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077756T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176203 17 43077760 209384 G GT . . ALLELEID=206342;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077763dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11368665 17 43077795 209385 A G . . AF_TGP=0.50260;ALLELEID=206343;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077795A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4239147 17 43077808 264814 A G . . AF_TGP=0.01298;ALLELEID=259565;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077808A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182653629 17 43077840 209386 G A . . AF_TGP=0.54892;ALLELEID=206344;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077840G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4239148 17 43077891 209387 T A . . AF_TGP=0.54812;ALLELEID=206345;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43077891T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4318274 17 43078027 209388 G A . . AF_TGP=0.01038;ALLELEID=206346;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078027G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117089582 17 43078088 264827 CT C . . ALLELEID=259566;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078102del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35184764 17 43078211 209389 G A . . AF_TGP=0.33486;ALLELEID=206347;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078211G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176202 17 43078319 209390 A G . . AF_TGP=0.33486;ALLELEID=206348;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078319A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176201 17 43078359 209391 A G . . AF_TGP=0.33486;ALLELEID=206349;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078359A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176200 17 43078507 209392 T G . . AF_TGP=0.25300;ALLELEID=206350;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078507T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176199 17 43078520 209393 A T . . AF_TGP=0.50240;ALLELEID=206351;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078520A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176198 17 43078938 209394 G A . . AF_TGP=0.00339;ALLELEID=206352;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078938G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111819895 17 43078965 209395 C T . . AF_TGP=0.01637;ALLELEID=206353;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078965C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176197 17 43078973 209396 A G . . AF_TGP=0.50300;ALLELEID=206354;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43078973A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176196 17 43079069 209397 G A . . AF_TGP=0.00499;ALLELEID=206355;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43079069G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147065412 17 43079204 209398 A C . . AF_TGP=0.33546;ALLELEID=206356;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43079204A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176194 17 43079318 136548 G A . . AF_EXAC=0.00003;AF_TGP=0.00160;ALLELEID=140251;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43079318G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=562625234 17 43079499 209399 C T . . AF_TGP=0.35344;ALLELEID=206357;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43079499C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176193 17 43079681 209400 G C . . AF_TGP=0.14876;ALLELEID=206358;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43079681G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176192 17 43079885 209401 G A . . AF_TGP=0.33486;ALLELEID=206359;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43079885G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4793197 17 43080091 264782 A C . . AF_TGP=0.00220;ALLELEID=259567;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43080091A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149328571 17 43080276 209402 A G . . AF_TGP=0.00180;ALLELEID=206360;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43080276A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77008361 17 43080327 209929 G C . . AF_TGP=0.98023;ALLELEID=206361;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43080327G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=6416927 17 43080359 209403 C A . . AF_TGP=0.00240;ALLELEID=206362;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43080359C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143578208 17 43080681 209404 C T . . AF_TGP=0.14397;ALLELEID=206363;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43080681C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176190 17 43080841 209405 A C . . AF_TGP=0.01558;ALLELEID=206364;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43080841A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176188 17 43080890 209406 T TA . . ALLELEID=206365;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43080900dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200147389 17 43081018 209407 A G . . AF_TGP=0.00839;ALLELEID=206366;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43081018A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77473713 17 43081192 209408 A G . . AF_TGP=0.00599;ALLELEID=206367;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43081192A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176187 17 43081527 209409 G C . . AF_TGP=0.00379;ALLELEID=206368;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43081527G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150670602 17 43081610 209410 C T . . AF_TGP=0.01198;ALLELEID=206369;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43081610C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176186 17 43081753 264818 T C . . AF_TGP=0.00519;ALLELEID=259568;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43081753T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=530463308 17 43082024 209411 T C . . AF_TGP=0.00559;ALLELEID=206370;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082024T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176185 17 43082145 264849 T C . . AF_TGP=0.00240;ALLELEID=259569;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082145T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=543852008 17 43082287 125708 C T . . AF_TGP=0.06430;ALLELEID=131246;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43082287C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4476+117&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3737559 17 43082403 55178 C A . . ALLELEID=69845;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43082403C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4476+1&base_change%3DG_to_T;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358027 17 43082403 37584 C T . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=46140;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43082403C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4476+1&base_change%3DG_to_A|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00138|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286936;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358027 17 43082407 91628 T A . . ALLELEID=97105;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43082407T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=398122685 17 43082408 185700 T C . . ALLELEID=184926;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082408T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202387 17 43082412 266471 G C . . ALLELEID=261651;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082412G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040226 17 43082412 96930 G GA . . ALLELEID=102833;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082413dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4467&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357548 17 43082412 431355 GA G . . ALLELEID=424885;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082413del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:726405;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401932 17 43082414 55176 T C . . AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=69843;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43082414T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:108144|Breast_Cancer_Information_Core__(BRCA1):4466&base_change%3DA_to_G|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830621;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356840 17 43082418 266470 C CT . . ALLELEID=261652;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082421dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040225 17 43082422 55173 G A . . ALLELEID=69840;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43082422G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357067 17 43082422 55172 G GTTCT . . ALLELEID=69839;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082423_43082426dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:868296;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509164 17 43082422 55171 GTTCTGGAT G . . ALLELEID=69838;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082426_43082433del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4450&base_change%3Ddel_ATCCAGAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357825 17 43082428 55170 GAT G . . ALLELEID=69837;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082429_43082430del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509163 17 43082429 427343 A G . . AF_EXAC=0.00002;ALLELEID=416448;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43082429A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2290818|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846814;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=752824502 17 43082434 17675 G A . . ALLELEID=32714;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43082434G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775457|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286930|OMIM_Allelic_Variant:113705.0016|Genologica_Medica:GNL0018|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722777|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2470392|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_17000_605|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:63140;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=41293455 17 43082434 17676 G C . . ALLELEID=32715;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43082434G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:184292|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2476588|OMIM_Allelic_Variant:113705.0017|UniProtKB_(protein):P38398#VAR_007787;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=41293455 17 43082439 55168 T TC . . ALLELEID=69835;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082441dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4440&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357748 17 43082447 55166 G C . . ALLELEID=69833;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43082447G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356856 17 43082450 427282 A G . . ALLELEID=416449;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082450A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692092 17 43082450 431261 AG A . . ALLELEID=424802;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082451del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401874 17 43082451 266468 GA G . . ALLELEID=261653;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082453del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040223 17 43082452 55165 AAG A . . ALLELEID=69832;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43082453AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509161 17 43082453 125703 A G . . AF_ESP=0.27956;AF_EXAC=0.34310;AF_TGP=0.33626;ALLELEID=131241;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43082453A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:19755|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459128|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17815|Breast_Cancer_Information_Core__(BRCA1):4427&base_change%3DT_to_C;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=3;RS=1060915 17 43082456 185251 G A . . ALLELEID=184928;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43082456G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=730881445 17 43082460 55164 C CT . . ALLELEID=69831;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43082462dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4941755|Breast_Cancer_Information_Core__(BRCA1):4419&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357790 17 43082464 266467 TGATGGAA T . . ALLELEID=261654;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082466_43082472del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040222 17 43082471 125701 A AG . . ALLELEID=131239;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082474dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4408&base_change%3Dins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357556 17 43082474 548254 G GC . . ALLELEID=538790;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082474_43082475insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555584110 17 43082474 55161 G T . . ALLELEID=69828;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082474G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509160 17 43082475 266466 T TA . . ALLELEID=261656;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082476dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555584118 17 43082475 125700 T TC . . ALLELEID=131238;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082475_43082476insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4404&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357716 17 43082476 548285 A AC . . ALLELEID=538791;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082476_43082477insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555584122 17 43082476 266465 AG C . . ALLELEID=261655;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43082476_43082477delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040221 17 43082477 55160 GCT G . . ALLELEID=69827;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43082478_43082479del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509159 17 43082489 427328 C T . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416450;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082489C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=398122684 17 43082491 266464 G A . . ALLELEID=261657;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43082491G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040220 17 43082492 185565 G A . . ALLELEID=184930;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43082492G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202278 17 43082494 55159 T TC . . ALLELEID=69826;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082497dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509158 17 43082494 548196 TC T . . ALLELEID=538792;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082497del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509158 17 43082498 427259 A G . . ALLELEID=416451;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082498A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692074 17 43082503 55155 G A . . ALLELEID=69822;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082503G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286888;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357305 17 43082506 266463 C A . . ALLELEID=261658;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082506C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357309 17 43082506 55154 C G . . ALLELEID=69821;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43082506C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2645110|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00086;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357309 17 43082508 55153 A C . . ALLELEID=69820;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43082508A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509157 17 43082508 37579 AAC A . . ALLELEID=46135;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43082510CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4370&base_change%3Ddel_GT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357977 17 43082510 194081 C T . . AF_EXAC=0.00001;ALLELEID=191244;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082510C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=777057839 17 43082510 142996 CA C . . ALLELEID=152710;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43082511del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587782879 17 43082516 55151 T C . . AF_ESP=0.00023;AF_EXAC=0.00003;ALLELEID=69818;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43082516T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2454118|Illumina_Laboratory_Services,Illumina:898935;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=41293453 17 43082517 548281 T TA . . ALLELEID=538793;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082517_43082518insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555584178 17 43082517 37578 TC T . . AF_EXAC=0.00001;ALLELEID=46134;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43082518del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:190214|Breast_Cancer_Information_Core__(BRCA1):4362&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357981 17 43082518 375546 C A . . ALLELEID=362357;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082518C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Veritas_Genetics,Veritas_Genetics:750250;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1057519558 17 43082519 384529 T C . . ALLELEID=375071;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43082519T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1057521982 17 43082520 55149 A AG . . ALLELEID=69816;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082521dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509154 17 43082521 266462 GT G . . ALLELEID=261659;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082523del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040219 17 43082524 55148 C A . . ALLELEID=69815;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43082524C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509153 17 43082533 55146 C A . . ALLELEID=69813;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082533C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509152 17 43082534 184685 C T . . ALLELEID=184931;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43082534C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201618 17 43082536 266461 G A . . ALLELEID=261660;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082536G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841888|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_782;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040218 17 43082539 55145 G A . . AF_EXAC=0.00001;ALLELEID=69812;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082539G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286876|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2740335;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356989 17 43082542 266460 GC G . . ALLELEID=261661;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082543del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040217 17 43082543 427252 C T . . ALLELEID=416452;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082543C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1800707 17 43082545 266459 T A . . ALLELEID=261662;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082545T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040216 17 43082546 125698 TA T . . ALLELEID=131236;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43082547del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4333&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273900728 17 43082550 55142 AG A . . ALLELEID=69809;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082552del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4329&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357765 17 43082552 184015 G A . . ALLELEID=184932;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43082552G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2410147;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201224 17 43082553 266458 TTA T . . ALLELEID=261663;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082555_43082556del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040215 17 43082555 266457 AT A . . ALLELEID=261664;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082556del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040214 17 43082557 55140 G A . . ALLELEID=69807;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43082557G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00085;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357365 17 43082560 55139 G A . . ALLELEID=69806;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082560G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509151 17 43082563 266456 TG T . . ALLELEID=261665;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082565del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040213 17 43082564 232096 G C . . ALLELEID=235976;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43082564G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876659552 17 43082564 55136 GGT G . . ALLELEID=69803;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43082565_43082566del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4314&base_change%3Ddel_AC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357649 17 43082566 548305 T TCC . . ALLELEID=538794;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082566_43082567insCC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555584262 17 43082567 254454 A ACC . . ALLELEID=249089;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43082567_43082568insCC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038033 17 43082575 55135 G A . . ALLELEID=69802;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43082575G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841341|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286870;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357011 17 43083089 209412 A G . . AF_TGP=0.00479;ALLELEID=206371;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43083089A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=75754723 17 43083162 264774 T TTTTC . . ALLELEID=259570;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43083166CTTT[5];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=527906133 17 43083782 209413 G A . . AF_TGP=0.58546;ALLELEID=206372;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43083782G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8067269 17 43083822 209414 T A . . AF_TGP=0.00938;ALLELEID=206373;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43083822T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176182 17 43084026 209415 G A . . AF_TGP=0.00759;ALLELEID=206374;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43084026G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176181 17 43084031 264801 AT A . . ALLELEID=259571;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43084048del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=571319167 17 43084625 209416 T C . . AF_TGP=0.00659;ALLELEID=206375;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43084625T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176178 17 43084762 264853 G A . . AF_TGP=0.00499;ALLELEID=259572;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43084762G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=562679568 17 43085058 209417 T C . . AF_TGP=0.00579;ALLELEID=206376;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43085058T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176177 17 43085427 209418 A G . . AF_TGP=0.00419;ALLELEID=206377;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43085427A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176176 17 43085676 209419 T TA . . ALLELEID=206378;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43085678dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176175 17 43085936 209420 G A . . AF_TGP=0.35264;ALLELEID=206379;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43085936G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3950989 17 43085995 209421 T A . . AF_TGP=0.01058;ALLELEID=206380;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43085995T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176174 17 43086109 264775 T TACACAC . . ALLELEID=259573;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43086111CA[22];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=376686434 17 43086485 209422 A G . . AF_TGP=0.00120;ALLELEID=206381;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43086485A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=151196052 17 43086602 209423 C T . . AF_TGP=0.01158;ALLELEID=206382;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43086602C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176173 17 43087455 209424 G A . . AF_TGP=0.33806;ALLELEID=206383;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43087455G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176171 17 43087474 209425 T C . . AF_TGP=0.35363;ALLELEID=206384;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43087474T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176170 17 43087610 264807 C T . . AF_TGP=0.00280;ALLELEID=259574;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43087610C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176169 17 43087611 209426 A G . . AF_TGP=0.35363;ALLELEID=206385;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43087611A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176168 17 43087898 264847 AT A . . ALLELEID=259575;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43087911del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144110800 17 43087911 264855 T C . . AF_TGP=0.01158;ALLELEID=259576;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43087911T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=79996471 17 43087963 264826 T C . . AF_TGP=0.00659;ALLELEID=259577;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43087963T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176167 17 43088260 209427 T C . . AF_TGP=0.17033;ALLELEID=206386;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43088260T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176166 17 43088583 209428 C T . . AF_TGP=0.00519;ALLELEID=206387;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43088583C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147509580 17 43088733 209429 G A . . AF_TGP=0.01577;ALLELEID=206388;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43088733G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176165 17 43088898 209430 A G . . AF_TGP=0.02177;ALLELEID=206389;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43088898A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176163 17 43089157 209431 A C . . AF_TGP=0.00399;ALLELEID=206390;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43089157A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176162 17 43089373 209432 C A . . AF_TGP=0.35344;ALLELEID=206391;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43089373C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176161 17 43089486 209433 T C . . AF_TGP=0.35344;ALLELEID=206392;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43089486T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176160 17 43089550 209434 T TTC . . ALLELEID=206393;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43089551_43089552insCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201979969 17 43089551 209435 T TC . . AF_TGP=0.31969;ALLELEID=206394;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43089551_43089552insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34293035 17 43090058 209436 AAAG A . . ALLELEID=206395;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090060AGA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200781379 17 43090063 209437 AG A . . ALLELEID=206396;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090064del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200098203 17 43090064 209438 GA G . . ALLELEID=206397;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090066del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77684117 17 43090268 209439 T G . . AF_TGP=0.35264;ALLELEID=206398;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090268T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2070834 17 43090381 209440 T C . . AF_TGP=0.00100;ALLELEID=206399;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090381T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176155 17 43090589 209441 G A . . AF_TGP=0.00300;ALLELEID=206400;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090589G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148953585 17 43090737 264806 T TGTGCGC . . ALLELEID=259578;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43090741_43090746dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=138544133 17 43090832 209443 G T . . AF_TGP=0.07608;ALLELEID=206402;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43090832G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2070833 17 43090922 37574 CACACACACACACGCTTTTTA T . . ALLELEID=46130;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43090922_43090942delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4304+2&base_change%3Ddel_21_ins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286864;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=273900724 17 43090934 125685 C G . . AF_ESP=0.00008;ALLELEID=131223;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43090934C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2330852|Breast_Cancer_Information_Core__(BRCA1):4304+10&base_change%3DG_to_C;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358104 17 43090944 55131 C T . . ALLELEID=69798;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43090944C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2582655;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356857 17 43090945 55124 T TGA . . ALLELEID=69791;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43090947_43090948dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4441714|Breast_Cancer_Information_Core__(BRCA1):4302&base_change%3Dins_TC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357742 17 43090946 55125 G A . . ALLELEID=69792;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43090946G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2609764|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286858;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357260 17 43090947 220472 A G . . ALLELEID=222657;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090947A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=864622540 17 43090950 230701 G A . . ALLELEID=235980;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43090950G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=753735698 17 43090950 427298 G C . . AF_EXAC=0.00002;ALLELEID=416453;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43090950G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=753735698 17 43090953 266454 TA T . . ALLELEID=261666;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090957del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040211 17 43090958 55121 TGTCA T . . ALLELEID=69788;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090959_43090962del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4286&base_change%3Ddel_TGAC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357538 17 43090959 548209 G GTC . . ALLELEID=538796;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090960_43090961dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555586100 17 43090959 548304 GTC G . . ALLELEID=538795;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090960_43090961del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555586103 17 43090960 55120 TCA T . . ALLELEID=69787;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090962_43090963del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509144 17 43090961 125683 C CCT . . ALLELEID=131221;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090961_43090962insCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4286&base_change%3Dins_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357847 17 43090961 55122 CA C . . ALLELEID=69789;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43090962del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509145 17 43090962 55118 A ACT . . AF_EXAC=0.00001;ALLELEID=69785;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090963CT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357572 17 43090962 55117 ACT A . . ALLELEID=69784;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43090963CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:27422|Breast_Cancer_Information_Core__(BRCA1):4284&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357572 17 43090962 55116 ACTCT A . . ALLELEID=69783;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090963_43090966del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4282&base_change%3Ddel_AGAG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357532 17 43090965 125682 C CT . . ALLELEID=131220;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090966dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4282&base_change%3Dins_A|Invitae:9688168;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357788 17 43090965 266453 CTG C . . ALLELEID=261667;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090966_43090967del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040210 17 43090966 55115 TGA T . . ALLELEID=69782;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43090968AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1297827|Breast_Cancer_Information_Core__(BRCA1):4280&base_change%3Ddel_TC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357565 17 43090966 55113 TGAGAG T . . ALLELEID=69780;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43090969_43090973del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4547029;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509142 17 43090967 233727 G A . . ALLELEID=235981;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43090967G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876660601 17 43090973 266452 A ATAGCCCTGAG . . ALLELEID=261668;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43090974_43090983dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5898303;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=483353079 17 43090981 37572 G C . . ALLELEID=46128;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43090981G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357071 17 43090983 371879 G T . . ALLELEID=358940;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43090983G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1057517574 17 43090988 254453 CTT C . . ALLELEID=249090;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090989_43090990del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886038032 17 43090990 266451 TCA T . . ALLELEID=261669;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43090991_43090992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040209 17 43090991 419246 CA C . . ALLELEID=409970;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43090992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1064793746 17 43090991 55112 CAG C . . ALLELEID=69779;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43090993GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4236848;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509141 17 43090997 55111 C T . . AF_ESP=0.00015;AF_EXAC=0.00009;ALLELEID=69778;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43090997C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_070487;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=28897690 17 43090998 184408 G A . . ALLELEID=184936;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43090998G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356871 17 43090999 266450 CT C . . ALLELEID=261671;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091001del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040208 17 43090999 125681 CTT C . . ALLELEID=131219;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091000_43091001del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4247&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357921 17 43090999 266448 CTTGT C . . ALLELEID=261670;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091002_43091005del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040206 17 43091001 266449 TG T . . ALLELEID=261672;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091002del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040207 17 43091005 55107 TCA T . . ALLELEID=69774;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091007_43091008del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4241&base_change%3Ddel_TG|Invitae:943994;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357691 17 43091006 55108 C A . . ALLELEID=69775;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091006C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357397 17 43091007 37570 ACT A . . ALLELEID=46126;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091009TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4239&base_change%3Ddel_AG|Invitae:4420922;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357787 17 43091011 548190 T TAA . . ALLELEID=538797;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091011_43091012insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555586212 17 43091011 37568 TCA T . . ALLELEID=46124;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091013AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357804 17 43091012 37569 C A . . ALLELEID=46125;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091012C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286828|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830218;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357259 17 43091012 266446 CA C . . ALLELEID=261673;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091013del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040204 17 43091013 55106 A T . . ALLELEID=69773;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091013A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509140 17 43091015 125680 AC A . . ALLELEID=131218;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091018del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1458339|Breast_Cancer_Information_Core__(BRCA1):4232&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357861 17 43091016 548282 C CAGAT . . ALLELEID=538798;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091016_43091017insAGAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555586240 17 43091016 136547 C T . . AF_ESP=0.00123;AF_EXAC=0.00050;AF_TGP=0.00160;ALLELEID=140250;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091016C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:485987|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23617;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=147448807 17 43091017 125679 C CAGAT . . ALLELEID=131217;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091017_43091018insAGAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4230&base_change%3Dins_ATCT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357935 17 43091017 125678 CCA C . . ALLELEID=131216;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091018_43091019del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4229&base_change%3Ddel_TG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357529 17 43091018 55104 C CAGAT . . ALLELEID=69771;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091019_43091022dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509139 17 43091019 427251 A G . . ALLELEID=416454;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091019A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692067 17 43091020 548184 G GAGAT . . ALLELEID=538799;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091021_43091022insGATA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555586260 17 43091021 266444 A AAGAT . . ALLELEID=261674;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091021_43091022insAGAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040202 17 43091030 186497 C A . . ALLELEID=184938;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091030C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786202998 17 43091033 37567 C T . . ALLELEID=46123;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091033C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00136|Breast_Cancer_Information_Core__(BRCA1):4216-1&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358070 17 43091034 55103 T C . . ALLELEID=69770;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091034T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4216-2&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358019 17 43091042 125672 C T . . AF_EXAC=0.00001;ALLELEID=131210;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091042C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4216-10&base_change%3DG_to_A|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2508426|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2651552;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358057 17 43091043 125673 A G . . ALLELEID=131211;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091043A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00137|Breast_Cancer_Information_Core__(BRCA1):4216-11&base_change%3DT_to_C;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358072 17 43091173 125674 T G . . AF_TGP=0.50240;ALLELEID=131212;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091173T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4216-141&base_change%3DA_to_C;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=3;RS=799916 17 43091432 37566 T C . . ALLELEID=46122;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091432T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4215+3&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358015 17 43091434 37565 C T . . AF_EXAC=0.00002;ALLELEID=46121;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091434C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4215+1&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80358178 17 43091436 55102 TA T . . ALLELEID=69769;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091438del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509138 17 43091437 91623 A C . . ALLELEID=97100;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091437A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122681 17 43091437 55101 AAG A . . ALLELEID=69768;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091438_43091439del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509137 17 43091439 184605 G A . . ALLELEID=184939;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091439G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201566 17 43091440 266440 TTTGAATCCATGCTTTGC T . . ALLELEID=261675;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091442_43091458del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040198 17 43091443 254452 G C . . ALLELEID=249091;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091443G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844343;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122680 17 43091443 441374 G T . . ALLELEID=435124;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091443G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122680 17 43091445 55100 AT A . . ALLELEID=69767;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091446del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4204&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357737 17 43091450 812551 T A . . ALLELEID=800791;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091450T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357218 17 43091450 55099 T G . . AF_EXAC=0.00001;ALLELEID=69766;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091450T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00084;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357218 17 43091451 266441 GC G . . ALLELEID=261676;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091452del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040199 17 43091456 55098 G A . . ALLELEID=69765;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091456G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357456 17 43091457 55097 C T . . ALLELEID=69764;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091457C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4193&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356846 17 43091459 96924 C A . . ALLELEID=102827;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091459C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286816;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509136 17 43091459 266439 CT C . . ALLELEID=261677;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091461del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040197 17 43091460 184458 T C . . ALLELEID=184941;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091460T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201475 17 43091460 548293 T TTCAA . . ALLELEID=538800;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091462_43091463insAATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555586517 17 43091461 55094 TCTTG T . . ALLELEID=69761;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091462_43091465del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509135 17 43091462 266437 C A . . ALLELEID=261678;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091462C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040195 17 43091462 17674 CTTGA C . . ALLELEID=32713;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091465_43091468del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776816|Invitae:306942|Breast_Cancer_Information_Core__(BRCA1):4184&base_change%3Ddel_TCAA|OMIM_Allelic_Variant:113705.0015;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357508 17 43091462 55092 CTTGATTA C . . ALLELEID=69759;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43091465_43091471del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509134 17 43091464 266436 TG T . . ALLELEID=261681;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091465del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040194 17 43091464 266434 TGATTA T . . ALLELEID=261680;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_carcinoma|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091465_43091469del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040192 17 43091465 266435 G A . . ALLELEID=261679;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091465G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040193 17 43091465 409338 GAT A . . ALLELEID=402053;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091465_43091467delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060502345 17 43091465 91621 GATTA G . . ALLELEID=97098;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091466_43091469del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122679 17 43091469 55091 ATTTTC A . . ALLELEID=69758;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091472_43091476del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941807;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509133 17 43091474 55090 C A . . ALLELEID=69757;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091474C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357178 17 43091477 91620 C A . . ALLELEID=97097;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_provided;CLNHGVS=NC_000017.11:g.43091477C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357202 17 43091478 55088 C CA . . ALLELEID=69755;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091480dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4171&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357779 17 43091479 548195 A AC . . ALLELEID=538801;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091479_43091480insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555586564 17 43091479 55087 A T . . ALLELEID=69754;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43091479A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509132 17 43091480 125661 A AC . . ALLELEID=131199;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091480_43091481insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4169&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=483353092 17 43091480 427347 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=416455;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091480A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=139858874 17 43091481 427308 G A . . AF_EXAC=0.00001;ALLELEID=416456;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091481G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=779507799 17 43091481 55086 G GC . . ALLELEID=69753;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091484dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509131 17 43091484 219948 C T . . AF_EXAC=0.00001;ALLELEID=222658;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091484C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=758515222 17 43091485 55085 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;AF_TGP=0.00040;ALLELEID=69752;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091485G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00083;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357345 17 43091487 55083 TC T . . ALLELEID=69750;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091489del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509130 17 43091488 55082 CCT C . . ALLELEID=69749;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091489CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:726342|Invitae:1296546|Breast_Cancer_Information_Core__(BRCA1):4160&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357727 17 43091489 266433 C A . . ALLELEID=261682;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091489C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040191 17 43091489 96923 CTCTT C . . ALLELEID=102826;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091490TCTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=431825404 17 43091491 266432 C CT . . ALLELEID=261683;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091494dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273900721 17 43091491 254451 CTT C . . ALLELEID=249092;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091493_43091494del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273900721 17 43091492 41821 T C . . AF_ESP=0.00484;AF_EXAC=0.00398;AF_TGP=0.00060;ALLELEID=50260;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091492T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459109|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722662|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:38145|Institute_for_Genomic_Medicine_(IGM)_Clinical_Laboratory,Nationwide_Children's_Hospital:NCH_ACC:2237|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775701|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-15|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00011|Illumina_Laboratory_Services,Illumina:103706|UniProtKB_(protein):P38398#VAR_007785|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_709|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286768|HGMD:CM960181;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897689 17 43091494 266431 TC T . . ALLELEID=261684;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091495del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040189 17 43091495 37560 CT C . . ALLELEID=46116;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091497del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4154&base_change%3Ddel_A|OMIM_Allelic_Variant:113705.0030|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721148|Invitae:464303;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357711 17 43091498 266430 C A . . ALLELEID=261685;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091498C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040188 17 43091505 55076 T C . . ALLELEID=69743;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091505T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4145&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356828 17 43091505 427262 T G . . AF_TGP=0.00020;ALLELEID=416457;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091505T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356828 17 43091511 548162 C CAA . . ALLELEID=538802;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091512_43091513dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555586639 17 43091513 184728 A G . . ALLELEID=184942;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091513A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201646 17 43091514 266429 T TAA . . ALLELEID=261686;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091514_43091515insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040187 17 43091515 254450 T TC . . ALLELEID=249093;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091517dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038030 17 43091516 37559 C A . . ALLELEID=46115;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091516C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357021 17 43091517 254449 CT C . . ALLELEID=249094;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091519del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038029 17 43091522 254448 CACTCAGACCA C . . ALLELEID=249095;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091527_43091536del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=754792932 17 43091525 55074 TCAGA T . . ALLELEID=69741;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091527_43091530del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509128 17 43091529 427272 A G . . ALLELEID=416458;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091529A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692083 17 43091529 55073 AC A . . ALLELEID=69740;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091531del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509127 17 43091529 266427 ACCAACTC A . . ALLELEID=261687;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091532_43091538del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040185 17 43091531 55070 CA C . . ALLELEID=69737;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091533del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941820;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509125 17 43091537 266426 CCTGG C . . ALLELEID=261688;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091540_43091543del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040184 17 43091538 185385 C T . . ALLELEID=184943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091538C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=70953658 17 43091540 37558 G A . . ALLELEID=46114;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091540G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507224 17 43091541 234038 G A . . ALLELEID=235985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091541G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660808 17 43091544 266425 TTC GAAA . . ALLELEID=261689;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091544_43091546delinsGAAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040183 17 43091548 55069 G GA . . ALLELEID=69736;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091549dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509124 17 43091549 55068 AC A . . ALLELEID=69735;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091550del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509123 17 43091552 232360 G A . . ALLELEID=235987;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091552G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659720 17 43091556 415574 C T . . AF_EXAC=0.00001;ALLELEID=402056;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091556C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841579;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=761424661 17 43091557 55066 CT C . . ALLELEID=69733;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091558del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4092&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357904 17 43091557 266424 CTC TT . . ALLELEID=261690;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091557_43091559delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040182 17 43091558 55065 TC T . . ALLELEID=69732;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091559del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4091&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357987 17 43091559 266423 CATTT C . . ALLELEID=261691;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091560_43091563del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040181 17 43091560 142938 ATT A . . ALLELEID=152652;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091562_43091563del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587782834 17 43091563 55063 TG T . . ALLELEID=69730;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091564del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841157;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509122 17 43091564 55062 G A . . AF_EXAC=0.00001;ALLELEID=69729;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091564G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286732|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852609;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357262 17 43091564 55061 GT G . . ALLELEID=69728;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091567del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4085&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357979 17 43091567 55059 T A . . ALLELEID=69726;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091567T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357343 17 43091569 266422 GA G . . ALLELEID=261692;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091571del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040180 17 43091571 266421 AG A . . ALLELEID=261693;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091572del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040179 17 43091573 431257 AAC A . . ALLELEID=424806;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091574_43091575del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401871 17 43091575 266420 CCAAT C . . ALLELEID=261694;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091579_43091582del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040178 17 43091576 431256 CA C . . ALLELEID=424807;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401870 17 43091580 266419 CAAGA C . . ALLELEID=261695;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091584_43091587del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040177 17 43091594 37556 G A . . ALLELEID=46112;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091594G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2325290|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286708;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357318 17 43091595 427364 G A . . AF_EXAC=0.00001;ALLELEID=416459;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091595G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=753210219 17 43091596 232602 G GTGTT . . ALLELEID=235991;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091600_43091603dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357864 17 43091596 55054 GTGTT G . . ALLELEID=69721;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091600_43091603del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4050&base_change%3Ddel_AACA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357864 17 43091598 55055 GT G . . ALLELEID=69722;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091601del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4051&base_change%3Ddel_A|Invitae:4941832;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357504 17 43091600 55052 TTGTA T . . ALLELEID=69719;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091602_43091605del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509120 17 43091602 266418 G GT . . ALLELEID=261696;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091603dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040176 17 43091604 55051 AT A . . ALLELEID=69718;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091607del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509119 17 43091613 427285 C T . . ALLELEID=416460;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091613C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202068 17 43091613 266417 CA C . . ALLELEID=261697;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091615del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040175 17 43091613 55049 CAA C . . ALLELEID=69716;CLNDISDB=Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Ovarian_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091614_43091615del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4035&base_change%3Ddel_TT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357678 17 43091616 55048 GT G . . ALLELEID=69715;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091617del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509118 17 43091620 55047 TC T . . ALLELEID=69714;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091622del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509117 17 43091621 254447 C A . . ALLELEID=249096;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091621C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038028 17 43091621 266416 C CCA . . ALLELEID=261698;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091622_43091623dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040174 17 43091622 125658 C CA . . ALLELEID=131196;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091624dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4941840|Breast_Cancer_Information_Core__(BRCA1):4027&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357634 17 43091623 266415 AA TCC . . ALLELEID=261699;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091623_43091624delinsTCC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357634 17 43091627 55045 C A . . ALLELEID=69712;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091627C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286684;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357461 17 43091628 55043 ACT A . . ALLELEID=69710;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091629_43091630del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):4020&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357646 17 43091631 182095 G A . . ALLELEID=180840;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091631G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881454 17 43091636 55040 G A . . ALLELEID=69707;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091636G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722590|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286672;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357038 17 43091638 240798 G C . . ALLELEID=242780;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091638G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357440 17 43091638 55039 G T . . ALLELEID=69706;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_provided;CLNHGVS=NC_000017.11:g.43091638G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357440 17 43091641 254446 GA G . . ALLELEID=249097;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091645del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038027 17 43091645 266414 AC A . . ALLELEID=261700;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091646del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040172 17 43091647 55037 AAGCT A . . ALLELEID=69704;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091651_43091654del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509116 17 43091654 55034 CA C . . ALLELEID=69701;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091655del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509115 17 43091656 136086 GA G . . ALLELEID=139798;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091658del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780802 17 43091658 548287 A AG . . ALLELEID=538803;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091658_43091659insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555586891 17 43091659 55033 C CG . . ALLELEID=69700;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091659_43091660insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509114 17 43091659 125657 CATTTT C . . ALLELEID=131195;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091660_43091664del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3986&base_change%3Ddel_AAAAT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357560 17 43091660 55032 ATT A . . ALLELEID=69699;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091663_43091664del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3988&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357918 17 43091663 37554 T A . . ALLELEID=46110;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43091663T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286654;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357254 17 43091668 55031 TC T . . ALLELEID=69698;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3981&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=273900718 17 43091669 266413 C A . . ALLELEID=261701;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091669C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659708 17 43091669 37553 CCTCA C . . ALLELEID=46109;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091672_43091675del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3975&base_change%3Ddel_AGTG|Breast_Cancer_Information_Core__(BRCA1):3977&base_change%3Ddel_4|Invitae:336419;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357842 17 43091673 193696 A G . . ALLELEID=190859;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091673A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=794726998 17 43091674 55030 CT C . . ALLELEID=69697;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091675del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3975&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357855 17 43091677 254445 AG A . . ALLELEID=249098;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091679del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507222 17 43091678 266412 G GGT . . ALLELEID=261702;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091680_43091681dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507221 17 43091679 427312 G A . . AF_EXAC=0.00001;ALLELEID=416461;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091679G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=776070899 17 43091680 266410 TGATGTTCCTGA T . . ALLELEID=261703;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091685_43091695del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040170 17 43091686 55026 TC T . . ALLELEID=69693;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091688del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509113 17 43091687 266409 CCTGAG C . . ALLELEID=261704;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091688_43091692del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040169 17 43091688 55023 CTG C . . ALLELEID=69690;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091689_43091690del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3960&base_change%3Ddel_CA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357584 17 43091688 55021 CTGAG GCCT . . ALLELEID=69688;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091688_43091692delinsGCCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3958&base_change%3Ddel_CTCAG_ins_AGGC;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=273900717 17 43091690 55022 G A . . ALLELEID=69689;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091690G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286642;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356866 17 43091690 266408 GAGAT G . . ALLELEID=261705;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091691_43091694del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040168 17 43091695 417826 GC G . . ALLELEID=404712;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091697del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060505047 17 43091697 234227 C T . . ALLELEID=235996;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091697C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660942 17 43091697 431254 CT C . . ALLELEID=424809;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091700del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851539;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401868 17 43091700 125655 T TG . . ALLELEID=131193;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091701dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3949&base_change%3Dins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357878 17 43091705 37550 A AT . . ALLELEID=46106;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091706dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507220 17 43091705 231468 A G . . ALLELEID=235997;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091705A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659178 17 43091706 548295 T TA . . ALLELEID=538804;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091707dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555586989 17 43091707 224418 ATTACC A . . ALLELEID=226200;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091709_43091713del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037785 17 43091708 37549 T C . . AF_ESP=0.00008;AF_EXAC=0.00012;AF_TGP=0.00040;ALLELEID=46105;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091708T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:40151;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357280 17 43091709 380248 T G . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=376102;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091709T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=372396487 17 43091709 266407 T TA . . ALLELEID=261706;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091710dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040167 17 43091710 55017 A AC . . ALLELEID=69684;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091712dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3939&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357616 17 43091710 55016 AC A . . ALLELEID=69683;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091712del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357616 17 43091714 55015 G A . . ALLELEID=69682;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091714G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286630;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357208 17 43091715 548165 G GA . . ALLELEID=538805;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091715_43091716insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587013 17 43091716 55014 T TA . . ALLELEID=69681;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091716_43091717insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509109 17 43091717 55013 T TA . . ALLELEID=69680;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091718dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509108 17 43091721 266406 G T . . ALLELEID=261707;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091721G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040166 17 43091727 136546 A G . . AF_ESP=0.00008;AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=140249;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091727A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2648872;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=140588714 17 43091731 531441 A C . . ALLELEID=531071;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091731A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587782190 17 43091733 427316 G A . . AF_TGP=0.00020;ALLELEID=416462;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091733G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=200648498 17 43091734 55009 C G . . ALLELEID=69676;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091734C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00082;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357160 17 43091736 55008 AT A . . ALLELEID=69675;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091738del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3913&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357767 17 43091746 55006 G T . . ALLELEID=69673;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091746G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357269 17 43091748 55005 T C . . AF_ESP=0.00008;ALLELEID=69672;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091748T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3902&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356831 17 43091748 55004 TA T . . ALLELEID=69671;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091750del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3901&base_change%3Ddel_T|Invitae:4031414;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357545 17 43091749 55003 A C . . ALLELEID=69670;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091749A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507219 17 43091750 548291 A AT . . ALLELEID=538806;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091751dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587063 17 43091751 427350 T C . . AF_EXAC=0.00001;ALLELEID=416463;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091751T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=753081589 17 43091751 55002 TA T . . ALLELEID=69669;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091754del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3896&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357798 17 43091752 125653 A AT . . ALLELEID=131191;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091752_43091753insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3897&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357849 17 43091752 254444 A C . . ALLELEID=249099;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091752A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038025 17 43091752 54999 AAATTCTCC A . . ALLELEID=69666;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091753_43091760del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509104 17 43091753 254443 AATTCTCCT A . . ALLELEID=249100;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091754_43091761del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038024 17 43091754 431253 ATTCTC A . . ALLELEID=424810;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091755_43091759del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401867 17 43091755 55001 TTC T . . ALLELEID=69668;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091756TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509106 17 43091757 225730 C T . . AF_EXAC=0.00001;ALLELEID=227562;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091757C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=431825399 17 43091758 125650 TCC T . . ALLELEID=131188;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091759_43091760del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3890&base_change%3Ddel_GG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357810 17 43091759 55000 C A . . ALLELEID=69667;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091759C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509105 17 43091759 37547 CC G . . ALLELEID=46103;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091759_43091760delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507218 17 43091759 37546 CCT C . . ALLELEID=46102;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Ovarian_cancer|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091760CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3888&base_change%3Ddel_GA|OMIM_Allelic_Variant:113705.0028|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2392874|Breast_Cancer_Information_Core__(BRCA1):3889&base_change%3Ddel_AG|Invitae:161289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357579 17 43091762 182074 CTG C . . ALLELEID=180842;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091764GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4941871;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881440 17 43091763 186246 T C . . ALLELEID=184953;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091763T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202803 17 43091764 125649 G GT . . ALLELEID=131187;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091765dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3885&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357704 17 43091765 266405 TG T . . ALLELEID=261708;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091766del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040165 17 43091766 37545 G GT . . ALLELEID=46101;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091768dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3883&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286600|Invitae:90594;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357848 17 43091766 54997 GTT G . . ALLELEID=69664;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091767_43091768del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509103 17 43091767 54996 TTC T . . ALLELEID=69663;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091769_43091770del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3880&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357645 17 43091768 548244 T TAA . . ALLELEID=538807;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091768_43091769insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587113 17 43091769 548207 C CA . . ALLELEID=538808;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091769_43091770insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357928 17 43091769 91614 C CAA . . ALLELEID=97091;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091769_43091770insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286594|Breast_Cancer_Information_Core__(BRCA1):3880&base_change%3Dins_TT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357928 17 43091770 54995 T TA . . ALLELEID=69662;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091770_43091771insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286588|Breast_Cancer_Information_Core__(BRCA1):3879&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357986 17 43091770 37544 TTA T . . ALLELEID=46100;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091771_43091772del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3878&base_change%3Ddel_TA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357520 17 43091770 266404 TTAGAC T . . ALLELEID=261709;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091771_43091775del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040164 17 43091771 54992 T TA . . ALLELEID=69659;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091772dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3878&base_change%3Dins_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286582|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722511|Invitae:960665;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357687 17 43091771 96915 TA T . . ALLELEID=102818;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091772del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=431825398 17 43091771 548311 TAG T . . ALLELEID=538809;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091773_43091774del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587135 17 43091771 17673 TAGAC T . . ALLELEID=32712;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091773GACA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3875&base_change%3Ddel_GTCT|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_263|Breast_Cancer_Information_Core__(BRCA1):3874&base_change%3Ddel_TGTC|OMIM_Allelic_Variant:113705.0014|Invitae:206798;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357868 17 43091772 54991 A C . . ALLELEID=69658;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091772A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3878&base_change%3DT_to_G;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356852 17 43091773 54989 GAC G . . ALLELEID=69656;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091775_43091776del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509099 17 43091775 427313 C G . . AF_EXAC=0.00002;ALLELEID=416464;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091775C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=752122039 17 43091775 431252 CAG C . . ALLELEID=424811;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091777_43091778del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401866 17 43091778 54988 A T . . ALLELEID=69655;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091778A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509098 17 43091780 266403 AC A . . ALLELEID=261710;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091781del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040163 17 43091781 232493 C T . . ALLELEID=236000;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091781C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=145903082 17 43091782 548228 T TG . . ALLELEID=538810;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091782_43091783insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587165 17 43091783 17672 C A . . ALLELEID=32711;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091783C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286564|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2403113|OMIM_Allelic_Variant:113705.0013|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722481;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897686 17 43091783 440468 C CGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTG . . ALLELEID=432905;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091784_43091826dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5331685;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=797044631 17 43091783 54987 C T . . ALLELEID=69654;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided;CLNHGVS=NC_000017.11:g.43091783C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00021|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778914|UniProtKB_(protein):P38398#VAR_052079|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2363746|Illumina_Laboratory_Services,Illumina:614988;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897686 17 43091783 125646 CGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA C . . ALLELEID=131184;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091788_43091821del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3829&base_change%3Dins_T_del_35;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038023 17 43091784 136085 G A . . AF_EXAC=0.00004;ALLELEID=139797;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091784G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843629;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780801 17 43091787 266402 AGCAACGGTGCTAT A . . ALLELEID=261711;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091790_43091802del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040162 17 43091790 54981 AACGGTGCTATGCCTAGTAG A . . ALLELEID=69648;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091793_43091811del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3841&base_change%3Ddel_19;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80359882 17 43091792 54985 C T . . AF_ESP=0.00008;AF_EXAC=0.00009;AF_TGP=0.00060;ALLELEID=69652;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091792C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00081;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357191 17 43091792 266401 CGGTGCTAT C . . ALLELEID=261712;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091794_43091801del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040161 17 43091793 383578 G A . . AF_EXAC=0.00001;ALLELEID=378261;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091793G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=778655093 17 43091794 54984 GT G . . ALLELEID=69651;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091795del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3855&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357578 17 43091800 548248 T TCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC . . ALLELEID=538811;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091800_43091801insCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587210 17 43091807 54982 T C . . AF_EXAC=0.00001;ALLELEID=69649;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091807T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357037 17 43091808 427290 A G . . AF_EXAC=0.00001;ALLELEID=416465;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091808A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=772759939 17 43091811 230032 C T . . ALLELEID=236001;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091811C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658341 17 43091813 54978 G A . . ALLELEID=69645;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091813G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286552|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840639;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356903 17 43091814 54977 A AG . . ALLELEID=69644;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091815dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509097 17 43091814 182094 A T . . AF_EXAC=0.00006;ALLELEID=180843;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091814A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881453 17 43091814 54975 AGA G . . ALLELEID=69642;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091814_43091816delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3834&base_change%3Ddel_TCT_ins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273900714 17 43091815 54976 GA G . . ALLELEID=69643;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091817del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509096 17 43091815 431250 GAAGGT G . . ALLELEID=424813;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091817_43091821del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401865 17 43091817 388418 A G . . AF_ESP=0.00008;ALLELEID=375080;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified;CLNHGVS=NC_000017.11:g.43091817A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=140777892 17 43091817 54969 AGGTATATT A . . ALLELEID=69636;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091819_43091826del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941887|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842473|Breast_Cancer_Information_Core__(BRCA1):3825&base_change%3Ddel_AATATACC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357552 17 43091818 37543 G A . . AF_EXAC=0.00016;ALLELEID=46099;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091818G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:665230|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00080;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897688 17 43091819 254441 G GTA . . ALLELEID=249102;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091821AT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=777371832 17 43091820 54972 TA T . . ALLELEID=69639;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091821del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3829&base_change%3Ddel_T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2357342;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357564 17 43091823 54970 A C . . AF_ESP=0.00023;AF_EXAC=0.00024;AF_TGP=0.00040;ALLELEID=69637;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091823A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:726429|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286534|Institute_for_Genomic_Medicine_(IGM)_Clinical_Laboratory,Nationwide_Children's_Hospital:NCH_ACC:2230|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775371|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.3708T>G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:19340|UniProtKB_(protein):P38398#VAR_052078;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897687 17 43091823 54968 ATT A . . ALLELEID=69635;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091824_43091825del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3825&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357666 17 43091823 54966 ATTGT A . . ALLELEID=69633;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091826_43091829del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509094 17 43091826 54967 GT G . . ALLELEID=69634;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091829del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509095 17 43091826 37542 GTTTAC G . . ALLELEID=46098;CLNDISDB=Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818|Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Abnormality_of_the_ovary|Ovarian_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091827TTTAC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_596|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:137555|Invitae:751795|Breast_Cancer_Information_Core__(BRCA1):3819&base_change%3Ddel_GTAAA|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1327;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357609 17 43091829 136545 T C . . ALLELEID=140248;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091829T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780862 17 43091832 183855 T C . . AF_ESP=0.00008;AF_EXAC=0.00007;ALLELEID=184955;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091832T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148447|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2811156;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=368690455 17 43091832 54963 TTTAC T . . ALLELEID=69630;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091833_43091836del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509093 17 43091834 254440 T A . . ALLELEID=249103;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091834T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=774679104 17 43091835 254439 AC A . . ALLELEID=249104;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091837del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038022 17 43091837 54962 C CA . . ALLELEID=69629;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091840dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509092 17 43091842 37540 A C . . ALLELEID=46096;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091842A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855725;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357162 17 43091843 184630 A G . . ALLELEID=184956;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091843A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201581 17 43091846 240795 A G . . AF_EXAC=0.00001;ALLELEID=242782;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091846A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=767958299 17 43091847 184693 G A . . ALLELEID=184957;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091847G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201623 17 43091847 37539 GT G . . ALLELEID=46095;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091848del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507217 17 43091851 54961 TGGAA T . . ALLELEID=69628;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091853_43091856del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3795&base_change%3Ddel_TTCC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357671 17 43091852 266399 G A . . ALLELEID=261713;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091852G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040159 17 43091856 245968 G T . . ALLELEID=245036;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091856G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879254023 17 43091858 91612 AG A . . ALLELEID=97089;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091861del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122677 17 43091859 54960 G GGGAA . . ALLELEID=69627;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091861_43091864dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1093046|Breast_Cancer_Information_Core__(BRCA1):3790&base_change%3Dins_TTCC|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286504;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357797 17 43091861 266398 GA G . . ALLELEID=261714;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091863del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040158 17 43091864 548246 GCT G . . ALLELEID=538813;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091865CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587316 17 43091867 54959 C A . . ALLELEID=69626;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091867C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286486|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2687953;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357356 17 43091870 54957 C A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=69624;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091870C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286480;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357310 17 43091872 186452 TC T . . ALLELEID=184958;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091874del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202963 17 43091874 37537 C G . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=46093;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091874C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_007784;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356876 17 43091878 531283 CTAGAT C . . ALLELEID=531333;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091879_43091883del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587333 17 43091879 266397 T TA . . ALLELEID=261715;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091880dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040157 17 43091880 548286 A AT . . ALLELEID=538814;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091880_43091881insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587337 17 43091881 54954 G GA . . ALLELEID=69621;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091882dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587345 17 43091881 125644 G GT . . ALLELEID=131182;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43091881_43091882insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3768&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286474;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357831 17 43091882 37535 A AT . . AF_EXAC=0.00001;ALLELEID=46091;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091883dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3767&base_change%3Dins_A|Invitae:537377;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357902 17 43091882 417831 ATAAGT A . . ALLELEID=404713;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091884_43091888del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060505051 17 43091884 54951 A C . . ALLELEID=69618;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091884A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509091 17 43091884 431249 A T . . ALLELEID=424814;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091884A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286462;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509091 17 43091886 427294 G A . . ALLELEID=416466;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091886G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=758329415 17 43091887 54950 TTC T . . ALLELEID=69617;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091889CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3761&base_change%3Ddel_GA|Invitae:4393126;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357805 17 43091889 427302 C T . . AF_EXAC=0.00002;ALLELEID=416467;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091889C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122675 17 43091891 54949 C A . . ALLELEID=69616;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091891C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843903;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356923 17 43091891 54948 C T . . AF_EXAC=0.00008;ALLELEID=69615;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091891C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00079|UniProtKB_(protein):P38398#VAR_070481|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1840280|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286456;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356923 17 43091893 441386 TC T . . ALLELEID=435129;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091894del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587365 17 43091894 431248 C A . . ALLELEID=424815;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091894C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286450;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401864 17 43091895 231101 T A . . ALLELEID=236005;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091895T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=148038877 17 43091895 136544 T C . . AF_ESP=0.00008;ALLELEID=140247;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091895T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=148038877 17 43091896 254438 G C . . ALLELEID=249105;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091896G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038021 17 43091896 266396 GAGGA G . . ALLELEID=261716;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091897_43091900del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040156 17 43091900 54947 ACT A . . ALLELEID=69614;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091901CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3748&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357589 17 43091901 225306 C CT . . ALLELEID=227390;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091902dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040154 17 43091902 54946 TC T . . ALLELEID=69613;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091903del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509090 17 43091903 37534 C CT . . AF_EXAC=0.00001;ALLELEID=46090;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0003874,MedGen:C1335178|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_Serous_Surface_Papillary_Adenocarcinoma|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43091904dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286438|Breast_Cancer_Information_Core__(BRCA1):3746&base_change%3Dins_A|Invitae:763150;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357729 17 43091904 427289 T C . . AF_EXAC=0.00001;ALLELEID=416468;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091904T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841892;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=770579978 17 43091904 54944 T TA . . ALLELEID=69611;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091906dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357571 17 43091904 54943 TA T . . ALLELEID=69610;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091906del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3745&base_change%3Ddel_T|OMIM_Allelic_Variant:113705.0032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357571 17 43091905 266394 A AT . . ALLELEID=261717;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091905_43091906insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040153 17 43091905 187637 A C . . ALLELEID=184960;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091905A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203884 17 43091905 54939 AATTTC TT . . ALLELEID=69606;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091905_43091910delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509087 17 43091906 54941 A AT . . ALLELEID=69608;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091909dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3741&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357512 17 43091906 254437 AT A . . ALLELEID=249106;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091909del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357512 17 43091910 125642 C CT . . ALLELEID=131180;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091912dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3739&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357926 17 43091912 54938 T A . . ALLELEID=69605;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091912T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357455 17 43091914 254436 GC G . . ALLELEID=249107;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091918del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038019 17 43091916 184109 C T . . AF_EXAC=0.00002;ALLELEID=184961;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091916C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=750113197 17 43091918 37533 CT C . . ALLELEID=46089;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091919del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3731&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357980 17 43091919 234011 T C . . AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=236006;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43091919T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=537737635 17 43091923 54935 C T . . AF_EXAC=0.00006;ALLELEID=69602;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091923C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:599295|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00078;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55930959 17 43091924 17671 G A . . ALLELEID=32710;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Ovarian_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_cancer|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43091924G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722389|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1835977|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2456420|OMIM_Allelic_Variant:113705.0012|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286432;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=62625308 17 43091925 266392 G GT . . ALLELEID=261718;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091926dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040151 17 43091926 266391 TA T . . ALLELEID=261719;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091928del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040150 17 43091928 54933 A C . . ALLELEID=69600;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091928A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356830 17 43091928 54928 ACCCTGAG A . . ALLELEID=69595;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091931_43091937del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509086 17 43091930 91609 CCT C . . ALLELEID=97086;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091931_43091932del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122674 17 43091931 54931 C A . . ALLELEID=69598;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091931C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2565537|UniProtKB_(protein):P38398#VAR_020691;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56214134 17 43091933 54929 G A . . ALLELEID=69596;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091933G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2423434|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286426|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:83994;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=62625307 17 43091937 254435 C CAA . . ALLELEID=249108;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091939_43091940dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3712&base_change%3Dins_TT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357562 17 43091938 54927 A T . . ALLELEID=69594;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091938A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509085 17 43091940 266388 ATGTGTATG A . . ALLELEID=261720;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091941_43091948del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040147 17 43091941 266387 TGTGTATGG T . . ALLELEID=261721;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091945_43091952del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040146 17 43091943 230491 T C . . ALLELEID=236007;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091943T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658595 17 43091943 266389 T TG . . ALLELEID=261722;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091944dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040148 17 43091944 54924 G GT . . ALLELEID=69591;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091945dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3705&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357531 17 43091947 54923 TG T . . ALLELEID=69590;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3700&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273900710 17 43091949 186138 G A . . ALLELEID=184962;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091949G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202722 17 43091950 548232 G GA . . ALLELEID=538815;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091950_43091951insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587464 17 43091950 54921 GT G . . ALLELEID=69588;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091951del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3699&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357663 17 43091952 54920 G GA . . ALLELEID=69587;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091955dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4941914;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509083 17 43091954 548182 A ATT . . ALLELEID=538816;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091954_43091955insTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587476 17 43091958 219423 G A . . ALLELEID=222661;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43091958G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=864622080 17 43091959 266386 CT C . . ALLELEID=261723;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091960del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040145 17 43091960 254434 TA T . . ALLELEID=249109;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091961del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038018 17 43091960 54918 TAG T . . ALLELEID=69585;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091961_43091962del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3688&base_change%3Ddel_CT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357845 17 43091966 266384 T TC . . ALLELEID=261724;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091968dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040143 17 43091978 54916 C A . . ALLELEID=69583;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091978C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509081 17 43091980 54914 CCT C . . ALLELEID=69581;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091981_43091982del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730882057 17 43091981 54915 CT A . . ALLELEID=69582;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091981_43091982delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3668&base_change%3Ddel_AG_ins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899709 17 43091981 125636 CTT C . . ALLELEID=131174;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091983_43091984del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3667&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357956 17 43091981 254433 CTTT ATC . . ALLELEID=249110;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091981_43091984delinsATC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038017 17 43091983 41818 T C . . AF_ESP=0.29525;AF_EXAC=0.34901;AF_TGP=0.35264;ALLELEID=50257;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091983T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_007783|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459048|HGMD:CM058359|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17817|Illumina_Laboratory_Services,Illumina:19767|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00010;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=16942 17 43091987 54913 G A . . ALLELEID=69580;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43091987G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286420;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357296 17 43091988 266382 GAC G . . ALLELEID=261725;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091989_43091990del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040141 17 43091989 254432 AC A . . ALLELEID=249111;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43091990del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038016 17 43091989 54910 ACG A . . ALLELEID=69577;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43091991_43091992del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509080 17 43091990 54911 C T . . AF_EXAC=0.00009;AF_TGP=0.00040;ALLELEID=69578;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43091990C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2389248;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56336919 17 43091991 381400 G A . . ALLELEID=375081;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43091991G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2428517;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=928545955 17 43091994 427280 T C . . ALLELEID=416469;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091994T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692090 17 43091996 266381 TG T . . ALLELEID=261726;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43091997del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040140 17 43091999 254431 T TA . . ALLELEID=249112;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092004dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357621 17 43091999 54909 TA T . . ALLELEID=69576;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092004del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3650&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357621 17 43092004 419648 AC A . . ALLELEID=409979;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092005del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064794016 17 43092006 427276 A C . . ALLELEID=416470;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092006A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692086 17 43092017 54906 C A . . ALLELEID=69573;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092017C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509079 17 43092018 186299 C T . . ALLELEID=184963;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092018C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202844 17 43092018 266380 CT C . . ALLELEID=261727;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092020del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040139 17 43092020 183177 T A . . ALLELEID=181316;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092020T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730882164 17 43092021 54904 AATGTC A . . ALLELEID=69571;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092024_43092028del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509078 17 43092024 548160 G GT . . ALLELEID=538817;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092025dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587573 17 43092026 266379 C CT . . ALLELEID=261728;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092026_43092027insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040138 17 43092027 54903 A AT . . ALLELEID=69570;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092031dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507216 17 43092027 37532 AT A . . ALLELEID=46088;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092031del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507216 17 43092031 266377 TCAGCAAAACTA T . . ALLELEID=261729;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092032_43092042del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040136 17 43092032 266378 CA C . . ALLELEID=261730;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092033del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040137 17 43092034 254430 GC G . . ALLELEID=249113;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092035del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038015 17 43092035 54901 CAA C . . ALLELEID=69568;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092038_43092039del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509076 17 43092037 431245 AAACTAGTATCTTC A . . ALLELEID=424816;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092038_43092050del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587588 17 43092038 266374 AACTAGTATCTT A . . ALLELEID=261731;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092039_43092049del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040133 17 43092039 266376 ACTAGTAT A . . ALLELEID=261732;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092042_43092048del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040135 17 43092039 17684 ACTAGTATCTTC A . . ALLELEID=32723;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092042_43092052del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:388397|Breast_Cancer_Information_Core__(BRCA1):3598&base_change%3Ddel_AGGAAGATACT|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286378|Breast_Cancer_Information_Core__(BRCA1):3600&base_change%3Ddel_GAAGATACTAG|OMIM_Allelic_Variant:113705.0025;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357877 17 43092042 266375 AGTAT A . . ALLELEID=261733;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092043_43092046del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040134 17 43092042 54897 AGTATCTTCCT A . . ALLELEID=69564;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092043_43092052del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509073 17 43092043 187386 GTATCTTCCTT G . . ALLELEID=184964;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092047_43092056del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203694 17 43092045 37531 AT A . . ALLELEID=46087;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092046del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3604&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357509 17 43092047 266373 CTTCCT C . . ALLELEID=261734;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092050_43092054del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040132 17 43092049 54898 TC T . . ALLELEID=69565;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092051del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509074 17 43092050 187055 C A . . ALLELEID=184965;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092050C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844116;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203438 17 43092050 54896 CCTTT C . . AF_EXAC=0.00001;ALLELEID=69563;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092051_43092054del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3596&base_change%3Ddel_AAAG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=5;RS=80357781 17 43092051 431244 CT C . . ALLELEID=424818;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092054del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899707 17 43092051 266372 CTT C . . ALLELEID=261735;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092053_43092054del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1370726;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899707 17 43092052 54895 TTT G . . ALLELEID=69562;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092052_43092054delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3596&base_change%3Ddel_AAA_ins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899707 17 43092059 54894 C A . . ALLELEID=69561;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:C1134719,SNOMED_CT:408643008;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Infiltrating_duct_carcinoma_of_breast;CLNHGVS=NC_000017.11:g.43092059C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509072 17 43092062 54892 CA C . . ALLELEID=69559;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092063del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509070 17 43092063 219540 A G . . ALLELEID=222662;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092063A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=864622146 17 43092068 125632 C CT . . ALLELEID=131170;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092069dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3581&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357857 17 43092068 54891 C G . . AF_EXAC=0.00001;ALLELEID=69558;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092068C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00028;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357484 17 43092068 254429 CTAACA C . . ALLELEID=249114;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092069_43092073del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038014 17 43092069 231245 T C . . ALLELEID=236013;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092069T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659048 17 43092070 266371 A C . . ALLELEID=261736;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092070A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040130 17 43092070 254428 AAC A . . ALLELEID=249115;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092072_43092073del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038013 17 43092080 54889 C CA . . ALLELEID=69556;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092081dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509069 17 43092080 54888 CA C . . ALLELEID=69555;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092081del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509068 17 43092083 54887 G A . . AF_EXAC=0.00009;AF_TGP=0.00080;ALLELEID=69554;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092083G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286360|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776029|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853835|UniProtKB_(protein):P38398#VAR_007782;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357272 17 43092088 37530 TC T . . ALLELEID=46086;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092089del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3561&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357808 17 43092089 254427 C A . . ALLELEID=249116;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092089C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038012 17 43092091 54885 GAACA G . . ALLELEID=69552;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092095_43092098del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1094849;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509067 17 43092099 187223 C T . . ALLELEID=184967;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092099C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356922 17 43092101 54883 G A . . ALLELEID=69550;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092101G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357369 17 43092103 54881 G TA . . ALLELEID=69548;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092103delinsTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509066 17 43092104 266369 ATGCATGACTAC G . . ALLELEID=261737;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092104_43092115delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040128 17 43092105 54879 T C . . ALLELEID=69546;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092105T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356843 17 43092106 438924 GC G . . ALLELEID=432906;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092107del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587718 17 43092108 215872 A G . . ALLELEID=213318;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092108A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=863224419 17 43092110 54877 G GA . . ALLELEID=69544;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092111dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509065 17 43092113 41817 T C . . AF_ESP=0.01053;AF_EXAC=0.00311;AF_TGP=0.00998;ALLELEID=50256;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092113T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:474248|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776438|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:85212|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.3418A>G|UniProtKB_(protein):P38398#VAR_019945|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00009;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=2227945 17 43092113 54875 TA T . . ALLELEID=69542;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092114del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3536&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899706 17 43092114 548192 A AC . . ALLELEID=538818;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092115dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587739 17 43092114 54874 AC A . . ALLELEID=69541;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092115del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509064 17 43092115 54873 C A . . ALLELEID=69540;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092115C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_020689|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459032;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357228 17 43092117 266368 T TC . . ALLELEID=261738;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092120dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509063 17 43092117 54872 TC T . . ALLELEID=69539;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092120del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509063 17 43092119 266367 C A . . ALLELEID=261739;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092119C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040126 17 43092128 54868 G A . . ALLELEID=69535;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092128G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286348;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357136 17 43092129 427346 T C . . AF_EXAC=0.00001;ALLELEID=416471;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092129T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=752875919 17 43092131 37529 C A . . ALLELEID=46085;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092131C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832164|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286342;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357018 17 43092132 54865 TAA T . . ALLELEID=69532;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092133_43092134del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3516&base_change%3Ddel_TT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357577 17 43092133 54867 A C . . ALLELEID=69534;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092133A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356971 17 43092133 54866 A T . . ALLELEID=69533;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092133A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356971 17 43092134 266366 AG A . . ALLELEID=261740;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092135del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040125 17 43092135 427334 G A . . AF_EXAC=0.00002;ALLELEID=416472;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092135G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=764013144 17 43092135 266365 GT G . . ALLELEID=261741;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092137del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040124 17 43092139 266363 TCTGAAATC T . . ALLELEID=261742;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092140_43092147del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040122 17 43092140 54864 CT C . . ALLELEID=69531;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092141del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3509&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357900 17 43092142 37528 G C . . ALLELEID=46084;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092142G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286336;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357405 17 43092142 266364 GA G . . ALLELEID=261743;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092145del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040123 17 43092150 266362 A C . . ALLELEID=261744;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092150A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=781319410 17 43092150 427306 A G . . AF_EXAC=0.00001;ALLELEID=416473;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092150A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=781319410 17 43092153 54863 TG T . . ALLELEID=69530;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092155del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509061 17 43092154 54861 GGA G . . ALLELEID=69528;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_cancer|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092155GA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3494&base_change%3Ddel_TC|Invitae:4125621;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357828 17 43092157 266361 G GA . . ALLELEID=261745;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092158dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040121 17 43092159 187047 G A . . ALLELEID=184972;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092159G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203431 17 43092162 266358 ATCTGTATTAAC A . . ALLELEID=261746;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092163_43092173del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040118 17 43092164 54859 CTG C . . ALLELEID=69526;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092166_43092167del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3484&base_change%3Ddel_CA|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2656924|Invitae:4941959;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357892 17 43092167 54857 TATTAA T . . ALLELEID=69524;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092168_43092172del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509060 17 43092168 54858 AT A . . ALLELEID=69525;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092170del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3481&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357865 17 43092170 266360 T TA . . ALLELEID=261747;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092172dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040120 17 43092170 54856 TAA T . . ALLELEID=69523;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092171_43092172del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3478&base_change%3Ddel_TT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357843 17 43092171 37526 AAC A . . ALLELEID=46082;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092173_43092174del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3477&base_change%3Ddel_GT|Invitae:1100730;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357945 17 43092173 125631 CA C . . ALLELEID=131169;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092174del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3476&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357827 17 43092175 54854 GTC G . . ALLELEID=69521;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092177_43092178del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941963;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509059 17 43092179 37524 G A . . ALLELEID=46080;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092179G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=397507215 17 43092179 125630 G GA . . ALLELEID=131168;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092181dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3470&base_change%3Dins_T|Invitae:4617414;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357785 17 43092183 427258 T C . . ALLELEID=416474;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092183T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692073 17 43092184 54852 ACTT A . . ALLELEID=69519;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092186TTC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1090104;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001822|inframe_deletion,SO:0001627|intron_variant;ORIGIN=1;RS=80358336 17 43092185 54850 CTTCT C . . ALLELEID=69517;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092187_43092190del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2784944|Breast_Cancer_Information_Core__(BRCA1):3461&base_change%3Ddel_AGAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=397509058 17 43092187 54851 TC T . . ALLELEID=69518;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092188del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3462&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899705 17 43092189 266357 TTCA T . . ALLELEID=261748;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092191_43092193del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941966;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040117 17 43092191 54849 C A . . ALLELEID=69516;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092191C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286294;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357278 17 43092192 54848 A C . . ALLELEID=69515;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092192A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357421 17 43092194 54846 ATTCT A . . ALLELEID=69513;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092196_43092199del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509057 17 43092195 266355 TTCTTG T . . ALLELEID=261749;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092196_43092200del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040115 17 43092196 433705 TC T . . ALLELEID=427553;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092197del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587944 17 43092196 37523 TCTTG T . . ALLELEID=46079;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092200_43092203del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:663411|Breast_Cancer_Information_Core__(BRCA1):3447&base_change%3Ddel_AAGC|Breast_Cancer_Information_Core__(BRCA1):3450&base_change%3Ddel_CAAG|Breast_Cancer_Information_Core__(BRCA1):3448&base_change%3Ddel_AGCA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357701 17 43092197 548236 C CT . . ALLELEID=538819;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092199dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357966 17 43092197 54847 CT C . . ALLELEID=69514;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092199del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2884230|Breast_Cancer_Information_Core__(BRCA1):3452&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357966 17 43092199 266356 TG T . . ALLELEID=261750;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092200del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040116 17 43092200 54845 G A . . ALLELEID=69512;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092200G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357089 17 43092200 125629 G GT . . ALLELEID=131167;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092200_43092201insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3449&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357996 17 43092200 254426 GC G . . ALLELEID=249117;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092201del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038011 17 43092200 54841 GCT G . . ALLELEID=69508;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092201_43092202del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3448&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357525 17 43092201 54843 C CT . . ALLELEID=69510;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092207dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4049203|Breast_Cancer_Information_Core__(BRCA1):3448&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357575 17 43092201 54842 CT C . . ALLELEID=69509;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092207del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:773140;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357575 17 43092201 54839 CTTTT C . . ALLELEID=69506;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092204_43092207del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1790683|Breast_Cancer_Information_Core__(BRCA1):3445&base_change%3Ddel_AAAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357575 17 43092201 54838 CTTTTT C . . ALLELEID=69505;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092203_43092207del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3444&base_change%3Ddel_AAAAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357575 17 43092204 125624 T C . . ALLELEID=131162;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092204T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41293449 17 43092204 37522 T G . . AF_ESP=0.00015;AF_EXAC=0.00009;ALLELEID=46078;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092204T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00037;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41293449 17 43092204 54837 TTTTA T . . ALLELEID=69504;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092208_43092211del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2056712|Breast_Cancer_Information_Core__(BRCA1):3439&base_change%3Ddel_AAAT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357763 17 43092206 186225 TTA T . . ALLELEID=184975;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092208_43092209del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202791 17 43092212 54836 C A . . ALLELEID=69503;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092212C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286264;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357106 17 43092213 548261 AG A . . ALLELEID=538820;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092215del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587972 17 43092216 54835 AT A . . ALLELEID=69502;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092217del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509054 17 43092219 231208 C T . . ALLELEID=236019;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092219C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659024 17 43092221 548200 T TG . . ALLELEID=538821;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092221_43092222insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555587980 17 43092222 266353 A AG . . ALLELEID=261751;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092222_43092223insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040113 17 43092222 54833 A T . . ALLELEID=69500;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092222A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286258;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357317 17 43092225 230607 A G . . ALLELEID=236020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092225A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658664 17 43092229 54830 C T . . AF_ESP=0.00015;AF_EXAC=0.00016;ALLELEID=69497;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092229C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775800|Illumina_Laboratory_Services,Illumina:475954|UniProtKB_(protein):P38398#VAR_070479|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00077;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41293447 17 43092234 54824 AG A . . ALLELEID=69491;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092236del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3904912|Breast_Cancer_Information_Core__(BRCA1):3415&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357815 17 43092235 41816 G A . . AF_ESP=0.00031;AF_EXAC=0.00026;AF_TGP=0.00060;ALLELEID=50255;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092235G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1829683|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00036|Illumina_Laboratory_Services,Illumina:726082;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357201 17 43092236 230548 GA G . . ALLELEID=236021;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092238del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4729164;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658626 17 43092237 54823 AAG A . . ALLELEID=69490;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092239_43092240del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3411&base_change%3Ddel_CT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357992 17 43092241 233101 C CT . . ALLELEID=236022;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092244dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:11766440;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357686 17 43092241 54822 CT C . . ALLELEID=69489;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092244del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357686 17 43092241 54821 CTT C . . ALLELEID=69488;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092243_43092244del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2056604|Breast_Cancer_Information_Core__(BRCA1):3407&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357686 17 43092242 266346 T TTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCA . . ALLELEID=261752;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092245_43092290dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588016 17 43092244 54819 TG T . . ALLELEID=69486;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092245del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3405&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357533 17 43092245 54818 G A . . ALLELEID=69485;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092245G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357485 17 43092245 54817 GT G . . ALLELEID=69484;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092248del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509051 17 43092249 266351 A C . . ALLELEID=261753;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092249A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040111 17 43092250 254425 TAG T . . ALLELEID=249118;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092252_43092253del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038010 17 43092251 54816 AG A . . ALLELEID=69483;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092252del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3398&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509050 17 43092253 266348 ACCTCAGGTTGCAAAAC A . . ALLELEID=261754;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092256_43092271del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040108 17 43092261 187419 T C . . ALLELEID=184976;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092261T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=369925993 17 43092263 54815 G A . . ALLELEID=69482;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092263G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357402 17 43092264 266349 CA C . . ALLELEID=261756;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092268del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040109 17 43092265 266350 A T . . ALLELEID=261755;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092265A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040110 17 43092268 54813 AC A . . ALLELEID=69480;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092272del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4639374;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509049 17 43092272 266347 CT C . . ALLELEID=261757;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092273del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040107 17 43092273 54811 T TA . . ALLELEID=69478;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092275dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3376&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357858 17 43092273 548173 T TTC . . ALLELEID=538822;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092273_43092274insTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588074 17 43092273 252873 TA T . . ALLELEID=247274;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092275del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:7288029;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357858 17 43092274 125620 A ATC . . ALLELEID=131158;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092274_43092275insTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3375&base_change%3Dins_GA|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286222;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357764 17 43092274 54810 A C . . ALLELEID=69477;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092274A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1232|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286228;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357006 17 43092274 54808 A T . . ALLELEID=69475;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092274A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357006 17 43092275 54807 A AT . . ALLELEID=69474;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092276dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3373&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588090 17 43092275 54806 A ATC . . ALLELEID=69473;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092277_43092278dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286216|Breast_Cancer_Information_Core__(BRCA1):3374&base_change%3Dins_GA|Invitae:4941986;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357624 17 43092277 54805 C CT . . ALLELEID=69472;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092278dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3372&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357517 17 43092279 431241 AAGCAT A . . ALLELEID=424821;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092280AGCAT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401859 17 43092288 232500 A G . . ALLELEID=236024;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092288A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659805 17 43092292 54804 A T . . ALLELEID=69471;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092292A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286186;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357145 17 43092293 184374 A G . . AF_EXAC=0.00005;ALLELEID=184979;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092293A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=754597283 17 43092297 233614 T C . . ALLELEID=236026;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092297T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660522 17 43092301 37516 CCT C . . ALLELEID=46072;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092302CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:486875|Breast_Cancer_Information_Core__(BRCA1):3347&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357635 17 43092304 54801 CT C . . ALLELEID=69468;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092305del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3345&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899703 17 43092305 254424 T A . . ALLELEID=249119;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092305T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038009 17 43092312 266345 ACC A . . ALLELEID=261758;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092313_43092314del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040106 17 43092316 54798 AG A . . ALLELEID=69465;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092317del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3333&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357923 17 43092318 382207 T C . . AF_TGP=0.00020;ALLELEID=378263;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified;CLNHGVS=NC_000017.11:g.43092318T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=528254652 17 43092318 266344 T TTC . . ALLELEID=261759;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092320_43092321dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040105 17 43092319 54797 T TC . . ALLELEID=69464;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092320dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509047 17 43092320 266343 C CT . . ALLELEID=261760;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092321dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040104 17 43092321 427253 T A . . ALLELEID=416475;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092321T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692068 17 43092322 266339 G GCTTGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTA . . ALLELEID=261761;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092325_43092383dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588199 17 43092324 266341 TTGAA T . . ALLELEID=261762;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092327_43092330del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040102 17 43092325 266342 TG T . . ALLELEID=261763;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092326del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040103 17 43092326 91607 GA G . . ALLELEID=97084;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092328del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122673 17 43092334 548283 T TC . . ALLELEID=538823;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092335dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588222 17 43092335 441438 C A . . ALLELEID=435139;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092335C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588220 17 43092337 54796 T TC . . ALLELEID=69463;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092338dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3312&base_change%3Dins_G|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286174|Invitae:808479;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357511 17 43092342 54794 GG C . . ALLELEID=69461;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092342_43092343delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3307&base_change%3Ddel_CC_ins_G;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899701 17 43092347 54793 CT C . . ALLELEID=69460;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092348del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509046 17 43092348 266340 TA T . . ALLELEID=261764;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092349del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040101 17 43092349 54792 AT A . . ALLELEID=69459;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092352del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4941997|Breast_Cancer_Information_Core__(BRCA1):3300&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357702 17 43092353 54789 C A . . ALLELEID=69456;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092353C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286168;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357424 17 43092356 37512 TA T . . ALLELEID=46068;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092358del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507210 17 43092358 54788 ATACT A . . ALLELEID=69455;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092359_43092362del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509045 17 43092360 232990 A G . . AF_EXAC=0.00001;ALLELEID=236030;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092360A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=746394738 17 43092362 54786 TG T . . ALLELEID=69453;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092364del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509044 17 43092366 54785 GC G . . ALLELEID=69452;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092369del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509043 17 43092372 125609 T TC . . ALLELEID=131147;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092372_43092373insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3277&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357769 17 43092373 54784 T TC . . ALLELEID=69451;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092374dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509042 17 43092373 54783 TC T . . ALLELEID=69450;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092374del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2622659;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509041 17 43092374 187251 C A . . ALLELEID=184982;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092374C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203587 17 43092375 54782 AT A . . ALLELEID=69449;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092377del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509040 17 43092378 381500 A G . . ALLELEID=375090;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092378A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844937;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1057521053 17 43092385 54779 GA G . . ALLELEID=69446;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092387del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509038 17 43092387 54778 A G . . ALLELEID=69445;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092387A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3263&base_change%3DT_to_C;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356837 17 43092387 266338 AC A . . ALLELEID=261765;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092389del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040100 17 43092388 54777 C A . . ALLELEID=69444;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092388C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356899 17 43092389 419901 CTACT C . . ALLELEID=409983;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092391_43092394del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064794177 17 43092392 182111 CTTCATTAATA C . . ALLELEID=180846;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092395_43092404del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881462 17 43092396 54774 ATTAATATTGC A . . ALLELEID=69441;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092399_43092408del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509036 17 43092398 252432 TA T . . ALLELEID=246848;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092400del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255316 17 43092401 37510 T C . . AF_EXAC=0.00002;ALLELEID=46066;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092401T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00076;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357271 17 43092409 54773 G C . . ALLELEID=69440;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092409G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1368638;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509035 17 43092410 266337 AGCTG A . . ALLELEID=261766;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092414_43092417del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040099 17 43092412 17670 C T . . AF_EXAC=0.01317;AF_TGP=0.00978;ALLELEID=32709;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092412C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459013|OMIM_Allelic_Variant:113705.0011|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1829825|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23346|Illumina_Laboratory_Services,Illumina:129380|UniProtKB_(protein):P38398#VAR_007780|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00015;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4986852 17 43092414 125607 GGCT TC . . ALLELEID=131145;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092414_43092417delinsTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3233&base_change%3Ddel_AGCC_ins_GA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899700 17 43092415 266336 GC G . . ALLELEID=261767;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092416del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040098 17 43092418 41815 T C . . AF_ESP=0.27903;AF_EXAC=0.34287;AF_TGP=0.33566;ALLELEID=50254;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092418T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:19784|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00008|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458995|UniProtKB_(protein):P38398#VAR_007779|HGMD:CM032861|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17818;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=16941 17 43092418 54770 TCTTTAA T . . ALLELEID=69437;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092419_43092424del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3226&base_change%3Ddel_TTAAAG;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357920 17 43092419 37509 C A . . ALLELEID=46065;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092419C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286156;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357161 17 43092420 548193 T TA . . ALLELEID=538824;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092420_43092421insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588381 17 43092421 266334 T TA . . ALLELEID=261768;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092421_43092422insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040096 17 43092422 54772 T TA . . ALLELEID=69439;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092427dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942016|Breast_Cancer_Information_Core__(BRCA1):3223&base_change%3Dins_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286150;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357841 17 43092422 54771 TA T . . ALLELEID=69438;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092427del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3227&base_change%3Ddel_T|Invitae:4942017;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357841 17 43092430 266333 T TTTTCTCTAATGTTA . . ALLELEID=261769;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092433_43092446dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3219&base_change%3Dins_TAACATTAGAGAAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357967 17 43092434 54769 C A . . ALLELEID=69436;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883;CLNDN=Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S;CLNHGVS=NC_000017.11:g.43092434C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899698 17 43092436 54768 CTAATGTTATTA C . . ALLELEID=69435;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092437_43092447del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286144|Breast_Cancer_Information_Core__(BRCA1):3203&base_change%3Ddel_TAATAACATTA|Invitae:174748;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357647 17 43092438 188410 A T . . ALLELEID=186545;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092438A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786204265 17 43092439 421801 A AT . . ALLELEID=409985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092440dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:11544322;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588399 17 43092448 37507 C T . . AF_EXAC=0.00017;AF_TGP=0.00080;ALLELEID=46063;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092448C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1648411|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:107963|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00075;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357459 17 43092449 37506 G A . . AF_EXAC=0.00002;ALLELEID=46062;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092449G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:714941;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357049 17 43092454 548316 A ATGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC . . ALLELEID=538825;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092455_43092456insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588427 17 43092455 266332 T TTGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC . . ALLELEID=261770;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092477_43092478insATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTGTGCTCACTGTACTTGGAATG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040095 17 43092456 184066 T G . . ALLELEID=184985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092456T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201258 17 43092462 427281 C T . . ALLELEID=416476;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092462C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692091 17 43092468 431239 AC A . . ALLELEID=424823;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092469del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401857 17 43092471 184695 T C . . AF_EXAC=0.00001;ALLELEID=184989;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092471T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=781435355 17 43092471 431238 TGGAA T . . ALLELEID=424824;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092472_43092475del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401856 17 43092476 548264 T TTCTCA . . ALLELEID=538826;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092476_43092477insTCTCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588469 17 43092477 125603 G GTCTCA . . ALLELEID=131141;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092478_43092479insCTCAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3172&base_change%3Dins_TGAGA|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286120;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357547 17 43092478 54763 T TTCTCA . . ALLELEID=69430;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092480_43092484dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:113705.0033|Breast_Cancer_Information_Core__(BRCA1):3171&base_change%3Dins_TGAGA|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286114|Breast_Cancer_Information_Core__(BRCA1):3166&base_change%3Dins_TGAGA|Invitae:661397;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357856 17 43092482 54764 C A . . ALLELEID=69431;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092482C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357004 17 43092486 427267 T G . . ALLELEID=416477;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092486T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692079 17 43092486 125601 T TC . . ALLELEID=131139;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092489dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3163&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357746 17 43092492 37502 TTC T . . ALLELEID=46058;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092494CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507208 17 43092500 54757 CAG C . . ALLELEID=69424;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092501_43092502del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3148&base_change%3Ddel_CT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357510 17 43092501 232882 A C . . ALLELEID=236038;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092501A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660048 17 43092505 54756 G T . . ALLELEID=69423;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092505G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=273899696 17 43092506 266330 A AC . . ALLELEID=261771;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092507dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040094 17 43092507 41814 C T . . AF_ESP=0.00046;AF_EXAC=0.00086;AF_TGP=0.00060;ALLELEID=50253;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092507C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:116431|UniProtKB_(protein):P38398#VAR_007777|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775511|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:161609|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458976|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-16|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00020;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800704 17 43092507 266329 CATTG C . . ALLELEID=261772;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092509_43092512del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040093 17 43092509 54755 T C . . AF_ESP=0.00077;AF_EXAC=0.00021;AF_TGP=0.00040;ALLELEID=69422;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092509T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00019|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:180261;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56321129 17 43092509 54749 TTGAA T . . ALLELEID=69416;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43092512_43092515del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942023|Breast_Cancer_Information_Core__(BRCA1):3137&base_change%3Ddel_TTCA|Breast_Cancer_Information_Core__(BRCA1):3135&base_change%3Ddel_CATT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357749 17 43092510 431237 TGAATG T . . ALLELEID=424825;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092511_43092515del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401855 17 43092511 54754 G C . . ALLELEID=69421;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092511G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357168 17 43092515 254423 GT G . . ALLELEID=249120;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092517del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038008 17 43092517 54748 TC T . . ALLELEID=69415;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092519del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1122711|Breast_Cancer_Information_Core__(BRCA1):3132&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357937 17 43092519 184912 C T . . ALLELEID=184990;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092519C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2442819;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201784 17 43092521 266328 C A . . ALLELEID=261773;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092521C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202534 17 43092521 54747 CAA C . . ALLELEID=69414;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092523_43092524del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3127&base_change%3Ddel_TT|Invitae:1267073;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357617 17 43092521 266327 CAAAG C . . ALLELEID=261774;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092522_43092525del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040092 17 43092522 184640 A G . . ALLELEID=184992;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092522A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201587 17 43092525 17669 GT G . . ALLELEID=32708;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092529del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:113705.0010|Breast_Cancer_Information_Core__(BRCA1):3121&base_change%3Ddel_A|Breast_Cancer_Information_Core__(BRCA1):3124&base_change%3Ddel_A|Invitae:675409;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357601 17 43092530 254422 C A . . ALLELEID=249121;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092530C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038007 17 43092531 54744 CT C . . ALLELEID=69411;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092532del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3118&base_change%3Ddel_A|Invitae:1123715;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357991 17 43092535 125597 AG TA . . ALLELEID=131135;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092535_43092536delinsTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899692 17 43092536 54740 G A . . ALLELEID=69407;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092536G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356848 17 43092540 54738 A ATT . . ALLELEID=69405;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092544_43092545dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4750300|Breast_Cancer_Information_Core__(BRCA1):3109&base_change%3Dins_AA|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286048;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357829 17 43092540 54739 AT A . . ALLELEID=69406;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092545del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357829 17 43092540 54736 ATTTTTCTTACATTTAGT A . . ALLELEID=69403;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092544_43092560del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509031 17 43092548 252431 T A . . ALLELEID=246849;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092548T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286042;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255315 17 43092548 37495 TAC T . . ALLELEID=46051;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092550_43092551del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507207 17 43092549 266326 AC A . . ALLELEID=261775;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092550del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040091 17 43092550 54737 CA C . . ALLELEID=69404;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092551del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3099&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357502 17 43092551 54735 ATTTAGTT A . . ALLELEID=69402;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092554_43092560del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509030 17 43092552 183786 T C . . AF_EXAC=0.00002;ALLELEID=184995;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092552T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2587291;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=772854836 17 43092560 266325 T A . . ALLELEID=261776;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092560T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040090 17 43092560 266324 TA T . . ALLELEID=261777;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092562del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040089 17 43092563 54733 CA C . . ALLELEID=69400;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092566del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509028 17 43092566 441377 ATGACT A . . ALLELEID=435143;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092570_43092574del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588625 17 43092568 54732 G T . . ALLELEID=69399;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092568G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507206 17 43092570 266323 C CT . . ALLELEID=261778;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092572dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886040088 17 43092572 266322 T A . . ALLELEID=261779;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092572T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878854941 17 43092575 54731 TG T . . ALLELEID=69398;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509027 17 43092578 54730 G GA . . ALLELEID=69397;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092583dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942039;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357627 17 43092578 54729 GA G . . ALLELEID=69396;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092583del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942040|Breast_Cancer_Information_Core__(BRCA1):3071&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357627 17 43092578 266321 GAA G . . ALLELEID=261780;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092582_43092583del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357627 17 43092583 231349 AG A . . ALLELEID=236045;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092584del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659108 17 43092585 182109 TG T . . ALLELEID=180848;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092587del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881461 17 43092588 136083 T A . . ALLELEID=139795;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092588T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780799 17 43092590 91603 GT G . . ALLELEID=97080;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092591del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:205005|Breast_Cancer_Information_Core__(BRCA1):3059&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357876 17 43092592 182073 AT A . . ALLELEID=180849;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092593del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881439 17 43092596 54726 GA G . . ALLELEID=69393;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092597del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3053&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357741 17 43092597 236270 A AT . . ALLELEID=237833;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092598dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878853292 17 43092597 37493 A C . . ALLELEID=46049;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092597A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_17312_605|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286024|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2381176|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778494;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357115 17 43092597 431234 A T . . ALLELEID=424828;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092597A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286018;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357115 17 43092600 54725 T C . . AF_EXAC=0.00002;ALLELEID=69392;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092600T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834492;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899691 17 43092600 54723 T TGG . . ALLELEID=69390;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092602_43092603dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509025 17 43092603 254421 GT G . . ALLELEID=249122;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092607del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038006 17 43092608 54722 G A . . ALLELEID=69389;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092608G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357497 17 43092609 54721 T TA . . ALLELEID=69388;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43092613dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357611 17 43092609 54718 TAA T . . ALLELEID=69385;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092612_43092613del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3039&base_change%3Ddel_TT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357611 17 43092610 54719 A T . . ALLELEID=69386;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092610A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Genologica_Medica:GNL0014;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356872 17 43092610 266320 AAAAG A . . ALLELEID=261781;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092611_43092614del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040086 17 43092611 186738 A G . . AF_EXAC=0.00001;ALLELEID=184996;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092611A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=763845063 17 43092615 54716 TC T . . ALLELEID=69383;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092617del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3034&base_change%3Ddel_G|Invitae:3243089;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357573 17 43092617 54715 C A . . ALLELEID=69382;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092617C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509023 17 43092617 240783 CAT C . . ALLELEID=242790;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092618_43092619del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878854940 17 43092618 187531 A G . . ALLELEID=184997;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092618A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203804 17 43092619 628452 T C . . ALLELEID=618626;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092619T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1567793641 17 43092620 54713 GT G . . ALLELEID=69380;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092623del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3029&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357893 17 43092623 266318 TAT AG . . ALLELEID=261782;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092623_43092625delinsAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040084 17 43092624 266319 AT A . . ALLELEID=261783;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092627del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040085 17 43092626 548247 T TGA . . ALLELEID=538827;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092626_43092627insGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588752 17 43092627 548203 T TG . . ALLELEID=538828;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092629dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588756 17 43092627 266317 T TGA . . ALLELEID=261784;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092628_43092629insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040083 17 43092628 91602 G GGA . . ALLELEID=97079;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092630_43092631dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1230083;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122670 17 43092632 254420 TA T . . ALLELEID=249123;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092634del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038005 17 43092633 185526 A G . . ALLELEID=184998;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092633A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202249 17 43092640 125595 CCA C . . ALLELEID=131133;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092641_43092642del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3008&base_change%3Ddel_TG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357890 17 43092641 266316 C A . . ALLELEID=261785;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092641C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879254027 17 43092642 231380 A G . . ALLELEID=236050;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092642A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659125 17 43092643 54710 GT G . . ALLELEID=69377;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092646del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):3006&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357559 17 43092647 54709 C T . . AF_EXAC=0.00001;ALLELEID=69376;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092647C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843464;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356955 17 43092648 184402 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=184999;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092648G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201190540 17 43092648 266315 GT G . . ALLELEID=261786;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092650del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040082 17 43092651 266314 GCC G . . ALLELEID=261787;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092652_43092653del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040081 17 43092654 54707 TCTGAA T . . ALLELEID=69374;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092659_43092663del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942060;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509021 17 43092655 266313 CT C . . ALLELEID=261788;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092656del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040080 17 43092658 548231 A AT . . ALLELEID=538829;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092658_43092659insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588803 17 43092659 125594 A AT . . ALLELEID=131132;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092659_43092660insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2990&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357693 17 43092660 54705 C CT . . ALLELEID=69372;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092661dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509020 17 43092660 54702 CTGAGA C . . ALLELEID=69369;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43092664_43092668del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2985&base_change%3Ddel_TCTCA|Breast_Cancer_Information_Core__(BRCA1):2982&base_change%3Ddel_TCATC|Invitae:745294;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357819 17 43092662 54703 G A . . ALLELEID=69370;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092662G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285982;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356973 17 43092662 125593 GA G . . ALLELEID=131131;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092663del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2987&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357929 17 43092664 548249 G GA . . ALLELEID=538830;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092665dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588822 17 43092666 246174 T A . . ALLELEID=245042;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092666T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=748285767 17 43092666 427320 T C . . AF_EXAC=0.00001;ALLELEID=416478;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092666T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=748285767 17 43092666 266310 TGATA T . . ALLELEID=261790;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092669_43092672del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040078 17 43092667 266312 G C . . ALLELEID=261789;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092667G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357295 17 43092667 54701 G T . . ALLELEID=69368;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092667G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285976|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2839605;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357295 17 43092669 184697 T C . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=185002;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092669T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2605649;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=559190752 17 43092669 185356 T G . . ALLELEID=185003;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092669T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=559190752 17 43092669 266311 T TA . . ALLELEID=261791;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092670dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942065;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040079 17 43092671 182093 G A . . ALLELEID=180853;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092671G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852106;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881452 17 43092673 54700 CAA C . . ALLELEID=69367;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092676_43092677del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942066;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509019 17 43092677 54698 ACCTAGAGCCT A . . ALLELEID=69365;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092681_43092690del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509017 17 43092679 548166 C CG . . ALLELEID=538831;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092679_43092680insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588844 17 43092680 266309 T TA . . ALLELEID=261793;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092681dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588846 17 43092680 266308 T TG . . ALLELEID=261792;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092680_43092681insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040077 17 43092682 54699 G GA . . ALLELEID=69366;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092683dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509018 17 43092687 266307 TC T . . ALLELEID=261794;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092689del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040076 17 43092689 54697 CTT C . . ALLELEID=69364;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092691_43092692del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2959&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357984 17 43092693 54696 GAT G . . ALLELEID=69363;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092695_43092696del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509016 17 43092695 54695 T TA . . ALLELEID=69362;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092696dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2954&base_change%3Dins_T|Invitae:4681155|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285970;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357519 17 43092695 54694 TAC G . . ALLELEID=69361;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092695_43092697delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776959|Breast_Cancer_Information_Core__(BRCA1):2953&base_change%3Ddel_GTA_ins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=386134270 17 43092695 54692 TAC T . . ALLELEID=69359;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092696_43092697del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509015 17 43092699 54691 A T . . ALLELEID=69358;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092699A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357458 17 43092700 54690 CA C . . ALLELEID=69357;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092701del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509014 17 43092702 427278 T C . . ALLELEID=416479;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092702T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692088 17 43092707 266306 CA C . . ALLELEID=261795;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092708del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040075 17 43092716 266305 CT C . . ALLELEID=261796;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092717del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040074 17 43092717 54688 T C . . AF_ESP=0.00208;AF_EXAC=0.00049;AF_TGP=0.00220;ALLELEID=69355;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified;CLNHGVS=NC_000017.11:g.43092717T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:70588|Breast_Cancer_Information_Core__(BRCA1):2933&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356851 17 43092717 54686 TGG T . . ALLELEID=69353;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092718_43092719del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730882056 17 43092718 54687 GG C . . ALLELEID=69354;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092718_43092719delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2931&base_change%3Ddel_CC_ins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899689 17 43092719 54685 GCTTA G . . ALLELEID=69352;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092720_43092723del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509013 17 43092720 231630 C T . . ALLELEID=236053;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092720C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852177;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659271 17 43092721 37491 TTATC T . . ALLELEID=46047;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092723_43092726del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2925&base_change%3Ddel_GATA|Invitae:1045945;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357832 17 43092722 438921 T A . . ALLELEID=432908;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092722T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588915 17 43092723 254419 ATC A . . ALLELEID=249124;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092725_43092726del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038004 17 43092725 236269 C CT . . ALLELEID=237834;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092728dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509012 17 43092725 54684 CT C . . ALLELEID=69351;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092728del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2924&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509012 17 43092731 54683 G A . . ALLELEID=69350;CLNDISDB=Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Ovarian_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092731G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357223 17 43092731 125590 GA G . . ALLELEID=131128;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092732del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2918&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357998 17 43092731 54682 GAC G . . ALLELEID=69349;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092732_43092733del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509011 17 43092731 54681 GACCA G . . ALLELEID=69348;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092732ACCA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2915&base_change%3Ddel_TGGT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357840 17 43092733 233288 C G . . ALLELEID=236054;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092733C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356941 17 43092734 441384 CA C . . ALLELEID=435144;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092736del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588942 17 43092738 233662 C T . . ALLELEID=236055;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092738C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660555 17 43092741 231428 A G . . ALLELEID=236056;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092741A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659151 17 43092742 548241 G GAAAGCCTGCAGTGATAA . . ALLELEID=538832;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092742_43092743insAAAGCCTGCAGTGATAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555588952 17 43092743 266304 G GAAAGCCTGCAGTGATAA . . ALLELEID=261797;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092759_43092760insAAAAGCCTGCAGTGATA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040073 17 43092747 422164 GC G . . ALLELEID=409990;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092749del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5898359;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064795600 17 43092752 266303 C CA . . ALLELEID=261798;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092753dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040072 17 43092752 548208 C CAT . . ALLELEID=538833;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092753_43092754insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040072 17 43092753 266301 AGT A . . ALLELEID=261799;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092755_43092756del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040070 17 43092754 266302 G GTA . . ALLELEID=261800;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092755_43092756insAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040071 17 43092756 183839 G A . . ALLELEID=185004;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092756G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201104 17 43092756 91601 GA G . . ALLELEID=97078;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092757del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122669 17 43092758 37489 T G . . AF_ESP=0.00031;AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=46045;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092758T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00074|UniProtKB_(protein):P38398#VAR_021913;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4986847 17 43092760 54678 TTAAC T . . ALLELEID=69345;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092762_43092765del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2886&base_change%3Ddel_GTTA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357661 17 43092763 54675 ACTGT A . . ALLELEID=69342;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092764CTGT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2883&base_change%3Ddel_ACAG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357822 17 43092764 54677 CT C . . ALLELEID=69344;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092765del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2885&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357812 17 43092768 54674 CT C . . ALLELEID=69341;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092769del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2881&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357703 17 43092770 54673 G A . . ALLELEID=69340;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092770G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285952;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357377 17 43092770 422417 GT G . . ALLELEID=409991;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092771del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064795769 17 43092773 37488 C T . . AF_EXAC=0.00001;ALLELEID=46044;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092773C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357361 17 43092774 233831 A G . . AF_EXAC=0.00001;ALLELEID=236057;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092774A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=755516286 17 43092775 548274 G GCACCC . . ALLELEID=538834;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092775_43092776insCACCC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589008 17 43092776 266300 GCT TG . . ALLELEID=261801;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092776_43092778delinsTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040069 17 43092779 266299 TG T . . ALLELEID=261802;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092780del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040068 17 43092780 266298 GA G . . ALLELEID=261803;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092781del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040067 17 43092781 54670 A AT . . ALLELEID=69337;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092782dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2867&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357942 17 43092782 91599 TA T . . ALLELEID=97076;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092783del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122667 17 43092785 54669 T TA . . ALLELEID=69336;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092786dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509008 17 43092785 54668 TAG T . . ALLELEID=69335;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092787_43092788del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2862&base_change%3Ddel_TC|OMIM_Allelic_Variant:113705.0009;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357540 17 43092786 230753 A C . . ALLELEID=236058;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092786A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658748 17 43092791 54667 C A . . ALLELEID=69334;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092791C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357419 17 43092792 230073 A G . . ALLELEID=236059;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092792A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899688 17 43092798 54664 T C . . AF_ESP=0.00046;AF_EXAC=0.00085;AF_TGP=0.00060;ALLELEID=69331;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092798T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458958|Illumina_Laboratory_Services,Illumina:116438|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775541|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:161610;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800740 17 43092800 54661 CTTGA C . . ALLELEID=69328;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092803_43092806del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2844&base_change%3Ddel_AATC|Breast_Cancer_Information_Core__(BRCA1):2846&base_change%3Ddel_TCAA|Invitae:1099357;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357605 17 43092800 54658 CTTGAT C . . ALLELEID=69325;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092803_43092807del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2843&base_change%3Ddel_AAATC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357712 17 43092802 54663 TG T . . ALLELEID=69330;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092803del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509005 17 43092803 54662 G A . . ALLELEID=69329;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092803G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509004 17 43092804 54660 A AT . . ALLELEID=69327;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092808dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:617530|Breast_Cancer_Information_Core__(BRCA1):2845&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357614 17 43092804 54659 AT A . . ALLELEID=69326;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092808del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2845&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357614 17 43092808 54656 TCTTC T . . ALLELEID=69323;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092812_43092815del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2838&base_change%3Ddel_GAAG|Invitae:1444783;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357731 17 43092809 54657 C A . . AF_ESP=0.00008;ALLELEID=69324;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092809C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2465339|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285928;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356978 17 43092811 252870 TC T . . ALLELEID=247271;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092813del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255481 17 43092812 230485 C A . . ALLELEID=236061;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092812C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658593 17 43092813 231289 CT C . . ALLELEID=236062;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092817del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5898362;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659072 17 43092818 54655 G A . . ALLELEID=69322;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092818G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509002 17 43092820 266297 TC T . . ALLELEID=261805;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092821del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040066 17 43092820 266296 TCA T . . ALLELEID=261804;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092821CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846394|Invitae:4942099;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040065 17 43092821 37484 C A . . ALLELEID=46040;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092821C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357035 17 43092821 54654 CA C . . ALLELEID=69321;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092822del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2828&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357594 17 43092823 37483 C CAT . . ALLELEID=46039;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092824_43092825dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:750568|Breast_Cancer_Information_Core__(BRCA1):2826&base_change%3Dins_AT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357717 17 43092823 421037 CA C . . ALLELEID=409994;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092824del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064794864 17 43092825 184424 T C . . ALLELEID=185007;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092825T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122665 17 43092826 266295 TC T . . ALLELEID=261806;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092827del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040064 17 43092827 54653 CAA C . . ALLELEID=69320;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092830_43092831del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942100|Breast_Cancer_Information_Core__(BRCA1):2819&base_change%3Ddel_TT;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357899 17 43092836 54650 C CT . . ALLELEID=69317;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092840dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2809&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357549 17 43092836 245696 C CTT . . ALLELEID=245043;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092839_43092840dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357549 17 43092836 266294 CT C . . ALLELEID=261807;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092840del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357549 17 43092837 266293 TTTTGGAC T . . ALLELEID=261808;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092842_43092848del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040062 17 43092837 266292 TTTTGGACTTTG T . . ALLELEID=261809;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092841_43092851del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040061 17 43092839 548268 T TTG . . ALLELEID=538835;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092840_43092841dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589128 17 43092841 254418 G GGT . . ALLELEID=249125;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092842_43092843insTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589138 17 43092842 548253 G GT . . ALLELEID=538836;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092842_43092843insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589140 17 43092844 91596 C CT . . ALLELEID=97073;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092847dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=5;RS=80357636 17 43092844 125581 CT C . . ALLELEID=131119;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092847del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2805&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357636 17 43092844 54646 CTT C . . ALLELEID=69313;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092846_43092847del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2804&base_change%3Ddel_AA|Invitae:2659650;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357636 17 43092844 54645 CTTTG C . . ALLELEID=69312;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092848_43092851del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942107;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508998 17 43092848 54644 G A . . ALLELEID=69311;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092848G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508997 17 43092848 54643 GT G . . ALLELEID=69310;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092851del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357971 17 43092848 17667 GTT G . . ALLELEID=32706;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092850_43092851del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:113705.0008|Breast_Cancer_Information_Core__(BRCA1):2800&base_change%3Ddel_AA|Invitae:163871;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357971 17 43092848 37481 GTTTC G . . ALLELEID=46037;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092852_43092855del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:893328|Breast_Cancer_Information_Core__(BRCA1):2798&base_change%3Ddel_GAAA|Breast_Cancer_Information_Core__(BRCA1):2795&base_change%3Ddel_AAAG|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2273981;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357596 17 43092849 427283 T C . . ALLELEID=416480;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092849T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692093 17 43092850 54641 TTC T . . ALLELEID=69308;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092852_43092853del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508995 17 43092851 231951 T A . . ALLELEID=236063;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092851T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659457 17 43092852 266291 C CT . . ALLELEID=261810;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092855dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040060 17 43092852 231698 C T . . ALLELEID=236064;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092852C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587781771 17 43092852 54639 CTTTA C . . ALLELEID=69306;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092853_43092856del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2794&base_change%3Ddel_TAAA;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357518 17 43092854 37480 T A . . ALLELEID=46036;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092854T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357170 17 43092856 266290 A C . . ALLELEID=261811;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092856A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508994 17 43092857 386793 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=376012;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092857A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=137998759 17 43092859 54637 GA G . . ALLELEID=69304;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092860del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508993 17 43092860 54636 AC A . . ALLELEID=69303;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092863del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2789&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357659 17 43092861 184769 C A . . ALLELEID=185008;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092861C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201677 17 43092862 37479 C A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=46035;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092862C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:147129|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00073|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2396362;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356874 17 43092864 233462 A AG . . ALLELEID=236065;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092865dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660425 17 43092865 54633 G GA . . ALLELEID=69300;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092866dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508992 17 43092870 548216 G GT . . ALLELEID=538837;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092870_43092871insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589195 17 43092871 54631 G GC . . ALLELEID=69298;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092872dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589203 17 43092871 54630 G GT . . ALLELEID=69297;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092871_43092872insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508991 17 43092872 125579 C CT . . ALLELEID=131117;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092872_43092873insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2777&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285868;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357541 17 43092872 54629 CAG C . . ALLELEID=69296;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092874GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4942119;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508990 17 43092876 187257 G GA . . ALLELEID=185010;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092878dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122663 17 43092876 91595 GA G . . ALLELEID=97072;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092878del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122663 17 43092878 266289 A AT . . ALLELEID=261812;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092879dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040059 17 43092880 548262 G GTGCC . . ALLELEID=538838;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092881_43092882insGCCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589228 17 43092880 266288 GTT G . . ALLELEID=261813;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092881_43092882del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040058 17 43092881 254417 T TTGCC . . ALLELEID=249126;CLNDISDB=.|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Familial_breast_and_ovarian_cancer|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092884_43092885insCTGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=5;RS=886038003 17 43092882 266287 T TTGCC . . ALLELEID=261814;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092882_43092883insTGCC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040057 17 43092882 54627 TGCA T . . ALLELEID=69294;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092883_43092885del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2765&base_change%3Ddel_TGC;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357513 17 43092883 548234 G GTGCC . . ALLELEID=538839;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092883_43092884insTGCC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589236 17 43092887 54626 AT A . . ALLELEID=69293;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43092889del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508989 17 43092890 54625 C A . . ALLELEID=69292;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092890C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285856;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508988 17 43092893 266286 CT C . . ALLELEID=261815;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092895del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040056 17 43092896 37478 C A . . ALLELEID=46034;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43092896C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285844;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357251 17 43092897 182092 T C . . AF_EXAC=0.00006;ALLELEID=180857;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092897T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2625264;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881451 17 43092900 254416 AT A . . ALLELEID=249127;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092903del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038002 17 43092906 229791 T A . . ALLELEID=236067;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092906T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=754222140 17 43092906 230865 T C . . AF_EXAC=0.00001;ALLELEID=236068;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092906T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=754222140 17 43092909 140993 AT A . . ALLELEID=150707;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092912del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587781423 17 43092913 54622 G GA . . ALLELEID=69289;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_cancer|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092917dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2735&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357912 17 43092913 266285 GA G . . ALLELEID=261816;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092917del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357912 17 43092918 54619 C CA . . ALLELEID=69286;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092918_43092919insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841104|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285832|Breast_Cancer_Information_Core__(BRCA1):2731&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357948 17 43092918 54621 C CG . . ALLELEID=69288;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092920dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589289 17 43092918 142642 C T . . AF_EXAC=0.00001;ALLELEID=152356;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092918C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:604117;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587782608 17 43092918 54617 CGG C . . ALLELEID=69284;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092919_43092920del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2730&base_change%3Ddel_CC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357962 17 43092919 41812 G A . . AF_ESP=0.49316;AF_EXAC=0.41005;AF_TGP=0.54393;ALLELEID=50251;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092919G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00007|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17492|HGMD:CM096315|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458940|UniProtKB_(protein):P38398#VAR_007774|Illumina_Laboratory_Services,Illumina:19690;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=799917 17 43092919 54620 G AA . . ALLELEID=69287;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092919delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508986 17 43092926 254415 A ATGAC . . ALLELEID=249128;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092929_43092932dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2723&base_change%3Dins_GTCA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357603 17 43092927 220359 T G . . ALLELEID=222666;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092927T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=864622491 17 43092928 37477 G C . . ALLELEID=46033;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092928G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285820;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356925 17 43092928 54616 G T . . ALLELEID=69283;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092928G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356925 17 43092930 231446 C T . . ALLELEID=236069;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092930C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659166 17 43092932 254414 G A . . ALLELEID=249129;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092932G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038001 17 43092934 54613 C T . . AF_EXAC=0.00003;ALLELEID=69280;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092934C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847524;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356911 17 43092935 41811 G A . . AF_EXAC=0.00010;ALLELEID=50250;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092935G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285814|Illumina_Laboratory_Services,Illumina:732960|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776353|UniProtKB_(protein):P38398#VAR_070478|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00072|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:52270;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41286300 17 43092936 54612 CT C . . ALLELEID=69279;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43092939del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2711&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357756 17 43092937 125575 TTTGAAACC T . . ALLELEID=131113;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092943_43092950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2705&base_change%3Ddel_GGTTTCAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357675 17 43092938 142666 T A . . ALLELEID=152380;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092938T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587782628 17 43092940 54610 G C . . ALLELEID=69277;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092940G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285802;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357003 17 43092943 266283 AC A . . ALLELEID=261817;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092945del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040053 17 43092947 37476 T C . . AF_EXAC=0.00010;ALLELEID=46032;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43092947T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2470921|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00071;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356927 17 43092951 233787 T C . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=236070;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43092951T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=556684572 17 43092952 548227 G GAA . . ALLELEID=538840;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092952_43092953insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589340 17 43092953 266282 T TAA . . ALLELEID=261818;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092954_43092955insAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040052 17 43092954 548256 AT A . . ALLELEID=538841;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092956del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589351 17 43092959 54607 G A . . ALLELEID=69274;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43092959G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508983 17 43092961 224421 A T . . ALLELEID=226202;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092961A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037787 17 43092962 184852 A G . . AF_EXAC=0.00001;ALLELEID=185012;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092962A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840427;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=779895958 17 43092963 54606 A C . . ALLELEID=69273;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092963A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356832 17 43092963 54605 A G . . ALLELEID=69272;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092963A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2687&base_change%3DT_to_C;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356832 17 43092964 548156 T TAATCA . . ALLELEID=538842;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092965_43092966insATCAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589385 17 43092965 54604 A G . . AF_ESP=0.00008;AF_EXAC=0.00152;AF_TGP=0.00300;ALLELEID=69271;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided;CLNHGVS=NC_000017.11:g.43092965A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_020685|Illumina_Laboratory_Services,Illumina:148732|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458922|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:37265|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00006;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80356892 17 43092965 54602 ACTGAG A . . ALLELEID=69269;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092967_43092971del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508981 17 43092967 548172 T TGC . . ALLELEID=538843;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092968_43092969insCG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589397 17 43092968 37475 G A . . ALLELEID=46031;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092968G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285790|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2624412;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357131 17 43092968 236268 G GGC . . ALLELEID=237835;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092968_43092969insGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285784;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878853290 17 43092969 54600 A AGC . . ALLELEID=69267;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092970_43092971dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2680&base_change%3Dins_GC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357968 17 43092972 54599 A AT . . ALLELEID=69266;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092973dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2676&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357835 17 43092973 548157 T TGAAAAGTGAA . . ALLELEID=538844;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092973_43092974insGAAAAGTGAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589410 17 43092974 54598 C CA . . ALLELEID=69265;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092976dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508978 17 43092974 54597 CA C . . ALLELEID=69264;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092976del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508978 17 43092977 266281 G GTT . . ALLELEID=261820;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092978_43092979dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040051 17 43092977 266280 GTT G . . ALLELEID=261819;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092978_43092979del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040050 17 43092979 54596 TC T . . ALLELEID=69263;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43092980del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508977 17 43092980 266279 C A . . ALLELEID=261821;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43092980C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842786;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122662 17 43092982 441315 CT C . . ALLELEID=435150;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092985del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589434 17 43092985 266278 TCTTC T . . ALLELEID=261822;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092987_43092990del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040049 17 43092986 54595 C A . . ALLELEID=69262;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092986C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356951 17 43092991 266277 ATT C . . ALLELEID=261823;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092991_43092993delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040048 17 43092994 266275 TCTATG T . . ALLELEID=261825;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092997_43093001del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040047 17 43092995 266276 C A . . ALLELEID=261824;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_carcinoma|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43092995C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203523 17 43092996 233186 T G . . ALLELEID=236071;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43092996T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660248 17 43093000 266274 CTT C . . ALLELEID=261826;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093001_43093002del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040046 17 43093003 427237 GT G . . ALLELEID=416228;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093006del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1085308034 17 43093006 91592 T C . . AF_EXAC=0.00002;ALLELEID=97069;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093006T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776983|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00070;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897684 17 43093006 266272 T TC . . ALLELEID=261828;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093009dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942146;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040045 17 43093007 266273 C A . . ALLELEID=261827;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093007C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285772;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658552 17 43093008 427248 C G . . ALLELEID=416481;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093008C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=773013395 17 43093008 185316 C T . . AF_EXAC=0.00001;ALLELEID=185015;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093008C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=773013395 17 43093010 17681 G A . . AF_EXAC=0.00172;AF_TGP=0.00220;ALLELEID=32720;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093010G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:113705.0022|UniProtKB_(protein):P38398#VAR_007773|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23345|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.2521C>T|Illumina_Laboratory_Services,Illumina:133382|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2400509|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458903|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00003|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775972;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800709 17 43093012 54590 CT C . . ALLELEID=69257;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093013del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508975 17 43093012 54589 CTG C . . ALLELEID=69256;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093013TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2265027;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508974 17 43093015 37474 TG T . . ALLELEID=46030;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093017del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2634&base_change%3Ddel_C|Invitae:4942148;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357607 17 43093017 54588 GT G . . ALLELEID=69255;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093019del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2632&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357863 17 43093022 54587 CTT C . . ALLELEID=69254;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093023_43093024del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2626&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273899686 17 43093024 136082 TC T . . ALLELEID=139794;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780798 17 43093026 280050 A ATGTCCCAATGGATACTT . . ALLELEID=264769;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093027_43093043dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942151;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=483353078 17 43093029 266271 TC T . . ALLELEID=261829;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093032del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040044 17 43093033 266270 A AATGGATAC . . ALLELEID=261830;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093034_43093041dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589539 17 43093033 54586 A AATGGATACTT . . ALLELEID=69253;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093035_43093044dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2607&base_change%3Ddup_AAGTATCCAT;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508973 17 43093035 220539 T A . . AF_EXAC=0.00002;ALLELEID=222668;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093035T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=767666029 17 43093037 548319 G GAC . . ALLELEID=538845;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093038_43093039insCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589547 17 43093038 266269 ATACT A . . ALLELEID=261831;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093041_43093044del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040043 17 43093039 266266 TACTTAAAGCCTTCTG CA . . ALLELEID=261832;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093039_43093054delinsCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040041 17 43093041 548298 C CATGGATACTT . . ALLELEID=538846;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093041_43093042insATGGATACTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589559 17 43093042 548206 T TAGGGG . . ALLELEID=538847;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093042_43093043insAGGGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589565 17 43093043 54585 T TA . . ALLELEID=69252;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093046dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357658 17 43093043 266268 T TAGGGG . . ALLELEID=261833;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093044_43093045insGGGGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508972 17 43093043 54584 TA T . . ALLELEID=69251;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093046del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2606&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357658 17 43093043 54583 TAA T . . ALLELEID=69250;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093045_43093046del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942157;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357658 17 43093049 266267 CT C . . ALLELEID=261834;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093051del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040042 17 43093052 54578 CTG C . . ALLELEID=69245;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093054GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2596&base_change%3Ddel_CA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357800 17 43093053 54579 TG T . . ALLELEID=69246;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093054del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2596&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357740 17 43093054 37473 G T . . AF_ESP=0.00023;AF_EXAC=0.00018;AF_TGP=0.00020;ALLELEID=46029;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093054G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_007772|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:722020|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2474730|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00034|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285730|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-17|Illumina_Laboratory_Services,Illumina:450804;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897683 17 43093054 54577 GT G . . ALLELEID=69244;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093055del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2595&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357631 17 43093055 37472 TG T . . ALLELEID=46028;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093056del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_791|Breast_Cancer_Information_Core__(BRCA1):2594&base_change%3Ddel_C|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:173945|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_17944_605;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357970 17 43093056 125571 G GT . . ALLELEID=131109;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093057dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2593&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357830 17 43093057 266265 TC T . . ALLELEID=261835;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093058del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040040 17 43093059 184349 A G . . ALLELEID=185018;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093059A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201415 17 43093062 54574 TC T . . ALLELEID=69241;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093063del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2587&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357799 17 43093063 421918 CT C . . ALLELEID=410000;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093064del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064795446 17 43093073 41810 T C . . AF_ESP=0.01007;AF_EXAC=0.00304;AF_TGP=0.01038;ALLELEID=50249;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093073T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00005|UniProtKB_(protein):P38398#VAR_007771|Illumina_Laboratory_Services,Illumina:575776|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778650|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:26682;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56082113 17 43093073 37471 TG T . . ALLELEID=46027;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia,_complementation_group_S|not_provided;CLNHGVS=NC_000017.11:g.43093075del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:418259|OMIM_Allelic_Variant:113705.0039|Breast_Cancer_Information_Core__(BRCA1):2576&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357669 17 43093080 54573 AC A . . ALLELEID=69240;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093082del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2569&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357679 17 43093082 254413 CATGA C . . ALLELEID=249130;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093085_43093088del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886038000 17 43093085 548226 G GA . . ALLELEID=538848;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093087dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589652 17 43093087 548313 A AT . . ALLELEID=538849;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093089dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357598 17 43093087 54572 AT A . . ALLELEID=69239;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093089del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2562&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357598 17 43093088 266263 T TA . . ALLELEID=261836;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093088_43093089insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040038 17 43093091 185284 G A . . ALLELEID=185019;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093091G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202054 17 43093092 125568 T TC . . ALLELEID=131106;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093095dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2557&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357503 17 43093094 54570 C A . . ALLELEID=69237;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093094C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285694;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357186 17 43093097 54569 T A . . ALLELEID=69236;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093097T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508968 17 43093097 230060 T TG . . ALLELEID=236075;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093101dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357524 17 43093097 37469 TG T . . ALLELEID=46025;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093101del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2270555|Invitae:297280|Breast_Cancer_Information_Core__(BRCA1):2552&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357524 17 43093101 266262 G GT . . ALLELEID=261837;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093105dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508967 17 43093101 54568 GT G . . ALLELEID=69235;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093105del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942165;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508967 17 43093103 54567 T A . . AF_ESP=0.00015;AF_EXAC=0.00008;ALLELEID=69234;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093103T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00069|UniProtKB_(protein):P38398#VAR_070476|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2245555;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=28897682 17 43093106 37467 CA C . . ALLELEID=46023;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093109del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507200 17 43093110 184951 T C . . AF_EXAC=0.00001;ALLELEID=185020;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093110T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=772960140 17 43093112 266261 C CT . . ALLELEID=261838;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093113dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040036 17 43093112 252379 CT C . . ALLELEID=246820;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093113del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255281 17 43093118 37466 ACT A . . ALLELEID=46022;CLNDISDB=Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Endometrial_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093119_43093120del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1829984|Breast_Cancer_Information_Core__(BRCA1):2530&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357664 17 43093119 54561 C G . . AF_ESP=0.00023;AF_EXAC=0.00006;ALLELEID=69228;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093119C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2689628|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00027;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55746541 17 43093119 184501 C T . . ALLELEID=185021;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093119C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854372;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55746541 17 43093119 266260 CT C . . ALLELEID=261840;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093120del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040035 17 43093119 266259 CTGACTCACACATTT C . . ALLELEID=261839;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093120_43093133del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040034 17 43093121 54560 G A . . ALLELEID=69227;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093121G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285652;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356982 17 43093121 254412 GA G . . AF_EXAC=0.00001;ALLELEID=249131;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093122del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=770460699 17 43093121 54559 GACTC G . . ALLELEID=69226;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093124_43093127del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2525&base_change%3Ddel_GAGT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357674 17 43093122 186397 ACT A . . ALLELEID=185023;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093124_43093125del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6410906;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202919 17 43093128 54557 A T . . ALLELEID=69224;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093128A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285640;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357381 17 43093128 231926 AC A . . ALLELEID=236077;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093129del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659447 17 43093129 186090 CATTT C . . ALLELEID=185024;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43093130ATTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2198341;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202684 17 43093134 266258 AT A . . ALLELEID=261841;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093137del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040033 17 43093137 54555 TG T . . ALLELEID=69222;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093139del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2512&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357850 17 43093139 54554 GTT G . . ALLELEID=69221;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093140_43093141del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2509&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357546 17 43093140 54552 TTC T . . ALLELEID=69219;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093142_43093143del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:957488|Breast_Cancer_Information_Core__(BRCA1):2508&base_change%3Ddel_GA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357695 17 43093141 54553 TC T . . ALLELEID=69220;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093142del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508965 17 43093142 17682 C A . . ALLELEID=32721;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093142C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285634|OMIM_Allelic_Variant:113705.0023;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=62625306 17 43093143 266256 T TG . . ALLELEID=261842;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093144dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040031 17 43093144 91585 G GT . . ALLELEID=97062;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093149dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122657 17 43093144 233279 GT A . . ALLELEID=236079;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093144_43093145delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660305 17 43093150 254411 G GC . . ALLELEID=249132;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093152dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037999 17 43093152 220464 C CT . . ALLELEID=222669;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093154dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=864622536 17 43093154 125560 TC T . . ALLELEID=131098;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093157del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2495&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357913 17 43093161 266254 AGT A . . ALLELEID=261843;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093163_43093164del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040029 17 43093168 231402 AC A . . ALLELEID=236081;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093169del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659136 17 43093169 266253 CT C . . ALLELEID=261844;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093171del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040028 17 43093171 54549 T TC . . ALLELEID=69216;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093173dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1367275|Breast_Cancer_Information_Core__(BRCA1):2478&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357739 17 43093171 54548 TC T . . ALLELEID=69215;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093173del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357739 17 43093173 54547 CA C . . ALLELEID=69214;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093174del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508963 17 43093173 54544 CAGTAACG C . . ALLELEID=69211;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093176_43093182del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942177|Breast_Cancer_Information_Core__(BRCA1):2470&base_change%3Ddel_CGTTACT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357820 17 43093174 54546 AG A . . ALLELEID=69213;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093175del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508962 17 43093175 125556 G GT . . ALLELEID=131094;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093176dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2474&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357990 17 43093177 54545 A T . . ALLELEID=69212;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093177A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508961 17 43093179 136543 C T . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=140246;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093179C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:777157;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=372017932 17 43093179 54543 CGA C . . ALLELEID=69210;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093180GA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508960 17 43093180 37464 G A . . AF_EXAC=0.00016;AF_TGP=0.00020;ALLELEID=46020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093180G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2559672;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55914168 17 43093184 266252 T TA . . ALLELEID=261845;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093185dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040027 17 43093187 266251 TTTCC T . . ALLELEID=261846;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093189_43093192del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040026 17 43093192 125555 TGA T . . ALLELEID=131093;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093194_43093195del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2456&base_change%3Ddel_TC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357515 17 43093193 54540 G A . . ALLELEID=69207;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093193G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2559244|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285610|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721946;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356945 17 43093197 427355 G A . . AF_EXAC=0.00002;ALLELEID=416482;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093197G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=777404687 17 43093198 252382 C CCA . . ALLELEID=246821;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43093199_43093200dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=431825390 17 43093200 266250 A C . . ALLELEID=261847;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093200A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357444 17 43093200 54538 A T . . ALLELEID=69205;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093200A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357444 17 43093201 54536 TA T . . ALLELEID=69203;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093203del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3058557|Breast_Cancer_Information_Core__(BRCA1):2448&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357725 17 43093203 548187 A AT . . ALLELEID=538850;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093204dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589901 17 43093208 266249 TA T . . ALLELEID=261848;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093209del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040025 17 43093209 54534 A T . . ALLELEID=69201;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093209A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508958 17 43093213 409354 GGTACCAA G . . ALLELEID=402512;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43093214_43093220del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060502354 17 43093215 230479 T G . . ALLELEID=236082;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093215T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658590 17 43093215 266248 TAC T . . ALLELEID=261849;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093216_43093217del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040024 17 43093216 41809 A G . . AF_ESP=0.00015;AF_EXAC=0.00010;ALLELEID=50248;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093216A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:40283|UniProtKB_(protein):P38398#VAR_007770|Illumina_Laboratory_Services,Illumina:657994|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778592|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00024;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357467 17 43093216 54532 AC A . . ALLELEID=69199;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093218del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2716652|Breast_Cancer_Information_Core__(BRCA1):2433&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357957 17 43093217 266245 CCAATGAA C . . ALLELEID=261850;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093218_43093224del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040022 17 43093218 548229 C CG . . ALLELEID=538851;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093218_43093219insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589935 17 43093219 266247 A AG . . ALLELEID=261851;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093219_43093220insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040023 17 43093220 54523 A ATGAAATACTGCTACTCTCT . . ALLELEID=69190;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093221_43093239dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508955 17 43093220 125554 A G . . AF_ESP=0.27764;AF_EXAC=0.34196;AF_TGP=0.33526;ALLELEID=131092;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093220A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:19803|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458870|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17819|Breast_Cancer_Information_Core__(BRCA1):2430&base_change%3DT_to_C;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=3;RS=16940 17 43093222 266246 G C . . ALLELEID=261852;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093222G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357063 17 43093222 54527 G T . . ALLELEID=69194;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093222G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357063 17 43093222 54526 GA G . . ALLELEID=69193;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093225del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508956 17 43093228 441331 CT C . . ALLELEID=435154;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093229del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555589953 17 43093231 37462 CT C . . ALLELEID=46018;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2418&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357786 17 43093232 188409 T TA . . ALLELEID=186546;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093233dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778718;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786204264 17 43093233 17666 ACT A . . ALLELEID=32705;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093234CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2415&base_change%3Ddel_AG|Invitae:1398802|OMIM_Allelic_Variant:113705.0007;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357780 17 43093236 185582 C T . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=185025;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093236C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201875054 17 43093238 54524 C A . . ALLELEID=69191;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093238C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357449 17 43093241 230816 CA C . . ALLELEID=236083;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093242del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658791 17 43093245 54522 T A . . AF_EXAC=0.00012;AF_TGP=0.00020;ALLELEID=69189;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093245T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:658428|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2559673;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273898682 17 43093246 54521 CTT C . . ALLELEID=69188;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093248_43093249del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2402&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357657 17 43093250 254410 CAGTTTGCAAAACCCTTTCTCCACTTAACATGAGAT C . . ALLELEID=249133;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093251_43093285del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037998 17 43093256 54519 G A . . ALLELEID=69186;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093256G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356999 17 43093257 125552 C CA . . ALLELEID=131090;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093261dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2392&base_change%3Dins_T|Invitae:6425019;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357681 17 43093257 234057 C T . . ALLELEID=236085;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093257C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660823 17 43093257 266244 CA C . . ALLELEID=261853;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093261del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357681 17 43093258 409317 A T . . ALLELEID=402018;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093258A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060502334 17 43093261 37459 AC A . . ALLELEID=46015;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093264del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2879161|Breast_Cancer_Information_Core__(BRCA1):2388&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357583 17 43093267 54517 TC T . . ALLELEID=69184;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093268del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2382&base_change%3Ddel_G|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842228;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357960 17 43093268 54516 C A . . ALLELEID=69183;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED_CT:372142002|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Carcinoma_of_pancreas|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093268C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285592;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41286296 17 43093273 417829 C CT . . ALLELEID=404714;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093275dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590033 17 43093274 254409 T TTA . . ALLELEID=249134;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093275_43093276dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2375&base_change%3Dins_TA;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357557 17 43093276 431225 A T . . ALLELEID=424837;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093276A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285586;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401852 17 43093276 54515 AAC A . . ALLELEID=69182;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093278_43093279del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2372&base_change%3Ddel_GT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357602 17 43093278 54513 CATGAG C . . ALLELEID=69180;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093281_43093285del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508954 17 43093279 254408 ATGAGATCTTT A . . ALLELEID=249135;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093280_43093289del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037997 17 43093283 548213 G GTC . . ALLELEID=538852;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093283_43093284insTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590055 17 43093289 54511 T TG . . ALLELEID=69178;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093293dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357650 17 43093289 54510 TG T . . ALLELEID=69177;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093293del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2360&base_change%3Ddel_C|Invitae:2484672;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357650 17 43093294 54509 T TC . . ALLELEID=69176;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093295dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2355&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357909 17 43093299 183843 A C . . ALLELEID=185028;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093299A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4986846 17 43093299 54508 A G . . AF_ESP=0.00038;AF_TGP=0.00060;ALLELEID=69175;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093299A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2351&base_change%3DT_to_C;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4986846 17 43093303 240780 TTA T . . ALLELEID=242793;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093305_43093306del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878854938 17 43093307 266243 T TA . . ALLELEID=261855;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093308dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:8223660;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040020 17 43093307 266242 TAG T . . ALLELEID=261854;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093309_43093310del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040019 17 43093309 266227 G GACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTT . . ALLELEID=261856;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093311_43093377dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590136 17 43093312 266241 AC A . . ALLELEID=261858;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093313del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040018 17 43093313 125548 C CT . . ALLELEID=131086;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093316dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2336&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357802 17 43093313 54504 CTT C . . ALLELEID=69171;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43093315_43093316del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942199;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=7;RS=80357802 17 43093313 266240 CTTTA TTT . . ALLELEID=261857;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093313_43093317delinsTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040017 17 43093314 415580 T C . . AF_EXAC=0.00002;ALLELEID=402020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093314T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=200521980 17 43093314 548161 T TAG . . ALLELEID=538853;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093314_43093315insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590163 17 43093315 125547 T TAG . . AF_EXAC=0.00001;ALLELEID=131085;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093315_43093316insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2334&base_change%3Dins_CT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357930 17 43093315 54502 TTAAC T . . ALLELEID=69169;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093317_43093320del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942201;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508951 17 43093316 54503 T A . . ALLELEID=69170;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093316T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285574;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56329598 17 43093316 186881 T TA . . ALLELEID=185031;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093318dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2562629;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357574 17 43093316 37457 T TAA . . ALLELEID=46013;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093317_43093318dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:6253053;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357574 17 43093316 125546 TA T . . ALLELEID=131084;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093318del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5301144|Breast_Cancer_Information_Core__(BRCA1):2333&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357574 17 43093318 54501 ACT A . . ALLELEID=69168;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093319_43093320del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508950 17 43093319 266239 C CT . . ALLELEID=261859;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093320dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040016 17 43093319 37456 CTG C . . ALLELEID=46012;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093321_43093322del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2329&base_change%3Ddel_CA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357654 17 43093320 54500 TG T . . ALLELEID=69167;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093321del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2329&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357793 17 43093321 409310 GT G . . ALLELEID=402023;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093324del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=1060502333 17 43093324 54498 TC T . . ALLELEID=69165;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093325del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2325&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357860 17 43093325 266238 CT C . . ALLELEID=261860;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093326del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040015 17 43093327 54497 AG A . . ALLELEID=69164;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093328del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2322&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357936 17 43093328 266237 G GT . . ALLELEID=261861;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093331dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357982 17 43093328 54496 GT G . . ALLELEID=69163;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093331del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2321&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357982 17 43093329 54495 TTTCTC T . . ALLELEID=69162;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093334_43093338del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2312&base_change%3Ddel_AGAAG|Breast_Cancer_Information_Core__(BRCA1):2314&base_change%3Ddel_AAGAG|Breast_Cancer_Information_Core__(BRCA1):2313&base_change%3Ddel_GAAGA|Breast_Cancer_Information_Core__(BRCA1):2316&base_change%3Ddel_GAGAA|Invitae:4612593;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357507 17 43093329 54489 TTTCTCTTCTTTTTC T . . ALLELEID=69156;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093337_43093350del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2307&base_change%3Ddel_GAAAAAGAAGAGAA|Invitae:4607010;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273898681 17 43093331 91578 TC T . . ALLELEID=97055;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093332del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2318&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357944 17 43093332 266235 C CT . . ALLELEID=261862;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093333dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040012 17 43093334 54494 C A . . ALLELEID=69161;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093334C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508949 17 43093334 54493 CT C . . ALLELEID=69160;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43093336del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508948 17 43093334 54491 CTTCT C . . ALLELEID=69158;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093337_43093340del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942208;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508947 17 43093334 54490 CTTCTT C . . ALLELEID=69157;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093337_43093341del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508946 17 43093335 266234 TT C . . ALLELEID=261863;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093335_43093336delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508948 17 43093336 266231 TCTTTTTC CCTTTTT . . ALLELEID=261864;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093336_43093343delinsCCTTTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040008 17 43093337 54492 C A . . ALLELEID=69159;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093337C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285544;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357426 17 43093337 266233 C TT . . ALLELEID=261865;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093337delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040010 17 43093337 266232 CT C . . ALLELEID=261866;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093342del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:7129599;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040009 17 43093341 266230 TTCTTC T . . ALLELEID=261867;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093346_43093350del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040007 17 43093342 125542 T TC . . ALLELEID=131080;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093343dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2307&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357566 17 43093343 54488 C A . . ALLELEID=69155;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093343C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357058 17 43093345 422530 TC T . . ALLELEID=410004;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093346del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064795840 17 43093346 417823 C A . . ALLELEID=404715;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093346C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285532;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659852 17 43093351 54486 G A . . AF_EXAC=0.00002;ALLELEID=69153;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093351G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850906;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356912 17 43093353 54484 AAG A . . ALLELEID=69151;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093354_43093355del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508945 17 43093354 54485 AG A . . ALLELEID=69152;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2295&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357668 17 43093356 54483 G A . . ALLELEID=69150;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093356G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273898680 17 43093356 54482 GC G . . ALLELEID=69149;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093357del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508944 17 43093359 548170 AGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCT A . . ALLELEID=538854;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093360_43093460del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590294 17 43093362 54477 ATTGACAAATTCTTT A . . ALLELEID=69144;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093363_43093376del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508941 17 43093364 37454 T C . . AF_ESP=0.00246;AF_EXAC=0.00057;AF_TGP=0.00200;ALLELEID=46010;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Malignant_tumor_of_prostate|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093364T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00068|UniProtKB_(protein):P38398#VAR_020110|Illumina_Laboratory_Services,Illumina:618542|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285520|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:155564;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4986845 17 43093364 54480 TG T . . ALLELEID=69147;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093365del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508943 17 43093368 548223 A AC . . ALLELEID=538855;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093368_43093369insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590332 17 43093369 266229 A AC . . ALLELEID=261868;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093369_43093370insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040006 17 43093370 266228 ATTCT A . . ALLELEID=261869;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093373_43093376del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040005 17 43093373 37453 C A . . ALLELEID=46009;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093373C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840436;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356875 17 43093373 54478 C CT . . ALLELEID=69145;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093376dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2274&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357715 17 43093376 54476 T A . . ALLELEID=69143;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093376T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357147 17 43093377 427293 A C . . AF_EXAC=0.00002;ALLELEID=416483;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093377A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=779227326 17 43093382 266226 C A . . ALLELEID=261870;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093382C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040004 17 43093385 254407 TG T . . ALLELEID=249136;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093387del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037996 17 43093387 266225 GTA CT . . ALLELEID=261871;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093387_43093389delinsCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040003 17 43093388 54475 TA T . . ALLELEID=69142;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093389del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2261&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273898679 17 43093391 266224 T TTG . . ALLELEID=261872;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093392_43093393dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040002 17 43093392 427279 T G . . ALLELEID=416484;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093392T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692089 17 43093393 37451 G C . . AF_EXAC=0.00001;ALLELEID=46007;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093393G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2570395|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285508;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357233 17 43093393 254406 G T . . ALLELEID=249137;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093393G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357233 17 43093394 266223 AAC A . . ALLELEID=261873;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093395AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040001 17 43093398 91577 CTT C . . ALLELEID=97054;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093399_43093400del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122653 17 43093399 266219 T TTAGTAAAAGAACCAGGTGCA . . ALLELEID=261874;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093401_43093420dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039998 17 43093401 54474 A C . . ALLELEID=69141;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093401A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273898678 17 43093401 409309 A TT . . ALLELEID=402700;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093401delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060502332 17 43093402 548263 G GT . . ALLELEID=538857;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093403dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590415 17 43093402 548251 G GTC . . ALLELEID=538856;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093403_43093404insCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590415 17 43093403 266221 T TTC . . ALLELEID=261875;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093403_43093404insTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039999 17 43093403 266222 TA T . . ALLELEID=261876;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093407del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508939 17 43093403 54470 TAA T . . ALLELEID=69137;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093406_43093407del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508939 17 43093404 431223 A AT . . ALLELEID=424839;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093404_43093405insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285472;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401851 17 43093405 266220 A AACT . . ALLELEID=261877;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093406_43093407insCTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855590;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590428 17 43093405 54469 A AT . . ALLELEID=69136;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093405_43093406insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2244&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285460;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357871 17 43093410 184733 A C . . ALLELEID=185033;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093410A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201649 17 43093410 548188 AC A . . ALLELEID=538858;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093412del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590441 17 43093416 427341 T A . . ALLELEID=416485;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093416T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692099 17 43093419 54462 ATT A . . ALLELEID=69129;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093421_43093422del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2229&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357814 17 43093422 54461 T C . . AF_ESP=0.00169;AF_EXAC=0.00052;AF_TGP=0.00160;ALLELEID=69128;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093422T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:109270;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=4986844 17 43093425 37445 T TA . . ALLELEID=46001;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093427dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2224&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357880 17 43093425 266218 TA T . . ALLELEID=261878;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093427del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357880 17 43093426 54460 A C . . ALLELEID=69127;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093426A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357298 17 43093428 54459 C T . . ALLELEID=69126;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093428C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273898677 17 43093428 96905 CTT C . . ALLELEID=102808;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093429_43093430del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=431825389 17 43093430 233241 T A . . ALLELEID=236096;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093430T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840753;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660282 17 43093431 548158 C CT . . ALLELEID=538859;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093431_43093432insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590461 17 43093432 125539 A AT . . ALLELEID=131077;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093432_43093433insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2217&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=483353086 17 43093436 254405 C A . . ALLELEID=249138;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093436C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658306 17 43093437 427291 T A . . ALLELEID=416486;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093437T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692098 17 43093440 266217 G GA . . ALLELEID=261879;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093443dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039996 17 43093440 440454 GA G . . ALLELEID=434085;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093443del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039996 17 43093441 266215 AAAGT A . . ALLELEID=261880;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093443_43093446del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039994 17 43093444 266216 G GT . . ALLELEID=261881;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093445dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039995 17 43093444 54458 GT G . . ALLELEID=69125;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093445del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508937 17 43093448 54456 C A . . AF_ESP=0.00008;ALLELEID=69123;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093448C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897681 17 43093449 125536 G A . . AF_ESP=0.29568;AF_EXAC=0.34827;AF_TGP=0.33646;ALLELEID=131074;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093449G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:17820|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458853|Breast_Cancer_Information_Core__(BRCA1):2201&base_change%3DC_to_T|Breast_Cancer_Information_Core__(BRCA1):2201&base_change%3DT_to_C|Illumina_Laboratory_Services,Illumina:19812;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1799949 17 43093450 266214 C CT . . ALLELEID=261882;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093451dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039993 17 43093450 54454 CTG C . . ALLELEID=69121;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093452_43093453del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2198&base_change%3Ddel_CA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357773 17 43093451 548215 T TTA . . ALLELEID=538860;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093451_43093452insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590520 17 43093452 54453 G A . . ALLELEID=69120;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093452G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356835 17 43093452 266213 G GTA . . ALLELEID=261883;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093453_43093454insAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039992 17 43093453 125535 T TTA . . ALLELEID=131073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093453_43093454insTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2196&base_change%3Dins_TA|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776381;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357595 17 43093454 41808 C T . . AF_ESP=0.05429;AF_EXAC=0.05681;AF_TGP=0.03355;ALLELEID=50247;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093454C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23343|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458834|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776407|Illumina_Laboratory_Services,Illumina:52166|UniProtKB_(protein):P38398#VAR_007769|HGMD:CM960172|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00004;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=4986850 17 43093454 266212 C TAT . . ALLELEID=261884;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093454delinsTAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039991 17 43093454 54452 CAT C . . ALLELEID=69119;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093455_43093456del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508936 17 43093455 254404 ATG A . . ALLELEID=249139;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093457_43093458del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037995 17 43093456 54451 TG T . . ALLELEID=69118;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093457del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2193&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357554 17 43093459 37444 CT C . . ALLELEID=46000;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093463del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:569024|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721844|Breast_Cancer_Information_Core__(BRCA1):2187&base_change%3Ddel_A|Breast_Cancer_Information_Core__(BRCA1):2190&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=9;RS=80357688 17 43093461 254403 TTTAC T . . ALLELEID=249140;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093464_43093467del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037994 17 43093463 266211 T A . . ALLELEID=261885;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093463T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587781448 17 43093464 54449 ACTTG A . . ALLELEID=69116;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093465_43093468del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508935 17 43093467 427263 T C . . ALLELEID=416487;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093467T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692077 17 43093472 54448 G A . . ALLELEID=69115;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093472G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273898674 17 43093475 142776 C A . . ALLELEID=152490;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093475C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587782709 17 43093482 427345 C T . . AF_EXAC=0.00001;ALLELEID=416488;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093482C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=778215185 17 43093482 54446 CT C . . ALLELEID=69113;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093484del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508933 17 43093487 216102 T TA . . ALLELEID=213325;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093488dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:82824;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=863224510 17 43093491 548168 C CGG . . ALLELEID=538861;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093491_43093492insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590620 17 43093492 125532 T TGG . . ALLELEID=131070;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093492_43093493insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2157&base_change%3Dins_CC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357940 17 43093493 431222 T A . . ALLELEID=424840;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093493T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285370;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401850 17 43093494 54443 C GG . . ALLELEID=69110;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093494delinsGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508932 17 43093494 427303 C T . . AF_EXAC=0.00002;AF_TGP=0.00040;ALLELEID=416489;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093494C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=572835027 17 43093496 54442 T A . . ALLELEID=69109;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093496T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:137788|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721816|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2476582|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285364|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_15225_605;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357082 17 43093501 54441 CCA C . . ALLELEID=69108;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093502_43093503del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508931 17 43093509 231336 A C . . AF_EXAC=0.00001;ALLELEID=236100;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093509A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=771519405 17 43093509 54440 AG A . . ALLELEID=69107;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093511del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508930 17 43093511 54438 GT G . . ALLELEID=69105;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093513del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1231744|Breast_Cancer_Information_Core__(BRCA1):2138&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357626 17 43093513 54437 TC T . . ALLELEID=69104;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093514del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2136&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357638 17 43093514 54436 C A . . ALLELEID=69103;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093514C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357391 17 43093515 427319 T C . . AF_EXAC=0.00001;ALLELEID=416490;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093515T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=776542749 17 43093517 54435 T A . . ALLELEID=69102;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided;CLNHGVS=NC_000017.11:g.43093517T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2362258;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508929 17 43093517 54434 T TAC . . ALLELEID=69101;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093518_43093519dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508928 17 43093518 266209 A AC . . ALLELEID=261886;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093520dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039989 17 43093529 37441 G A . . AF_EXAC=0.00001;ALLELEID=45997;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093529G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2394872|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00067|UniProtKB_(protein):P38398#VAR_070473;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357250 17 43093529 96903 G GT . . ALLELEID=102806;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093531dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2120&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357521 17 43093530 240779 T C . . ALLELEID=242794;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093530T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878854937 17 43093532 54430 G A . . ALLELEID=69097;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093532G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2089110;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356889 17 43093533 220277 T C . . ALLELEID=222670;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093533T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=864622452 17 43093534 54429 AG A . . ALLELEID=69096;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093536del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2115&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357922 17 43093536 433699 GT G . . ALLELEID=427559;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093539del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:10371434;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590714 17 43093548 225729 C T . . ALLELEID=227563;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093548C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=869320788 17 43093552 266208 AC A . . ALLELEID=261887;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093553del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039988 17 43093552 254402 ACT A . . AF_EXAC=0.00001;ALLELEID=249141;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093553_43093554del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=773413634 17 43093558 37439 AT A . . ALLELEID=45995;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093561del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507195 17 43093560 54424 T C . . AF_ESP=0.00869;AF_EXAC=0.00217;AF_TGP=0.00639;ALLELEID=69091;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093560T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2090&base_change%3DA_to_G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:82613|Illumina_Laboratory_Services,Illumina:576086;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897679 17 43093562 54423 G A . . ALLELEID=69090;CLNDISDB=Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Ovarian_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093562G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508926 17 43093562 431221 GGTTGTAC G . . ALLELEID=424841;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093563_43093569del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401849 17 43093563 427260 G A . . ALLELEID=416491;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093563G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692075 17 43093566 548297 G GC . . ALLELEID=538862;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093566_43093567insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590775 17 43093566 266207 G T . . ALLELEID=261888;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093566G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039987 17 43093566 187259 GT G . . ALLELEID=185037;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093567del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203594 17 43093567 54420 T TA . . ALLELEID=69087;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093568dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508924 17 43093567 54419 T TC . . ALLELEID=69086;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093567_43093568insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590789 17 43093568 254401 ACT A . . ALLELEID=249142;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093569_43093570del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037993 17 43093569 54417 C CT . . ALLELEID=69084;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_cancer|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093577dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285328|Breast_Cancer_Information_Core__(BRCA1):2080&base_change%3Dins_A|Invitae:835872;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357522 17 43093569 37438 CT C . . ALLELEID=45994;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:C1134719,SNOMED_CT:408643008|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia,_complementation_group_S|Infiltrating_duct_carcinoma_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43093577del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Laboratory_Services,Illumina:630118|Breast_Cancer_Information_Core__(BRCA1):2080&base_change%3Ddel_A|Invitae:565414|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721707|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1836007|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2461080|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285322;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357522 17 43093569 54416 CTT C . . ALLELEID=69083;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43093576_43093577del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2079&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357522 17 43093569 54413 CTTTT C . . ALLELEID=69080;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093574_43093577del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357522 17 43093571 37436 T A . . ALLELEID=45992;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093571T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2377940;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357355 17 43093572 186453 T C . . AF_EXAC=0.00001;ALLELEID=185038;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093572T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=767530204 17 43093574 37435 TTTTC T . . ALLELEID=45991;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093578_43093581del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2072&base_change%3Ddel_GAAA|Invitae:178430|Breast_Cancer_Information_Core__(BRCA1):2017&base_change%3Ddel_GAAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357526 17 43093577 54412 T TC . . ALLELEID=69079;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093578dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2072&base_change%3Dins_G|Invitae:1110865|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285304;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357753 17 43093577 266206 TC T . . ALLELEID=261889;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039986 17 43093578 54411 C CT . . ALLELEID=69078;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093581dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2071&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357885 17 43093578 54410 CT C . . ALLELEID=69077;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093581del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942256;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357885 17 43093578 266205 CTTTA C . . ALLELEID=261890;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093580_43093583del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039985 17 43093580 548211 T TTG . . ALLELEID=538863;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093581_43093582insGT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590811 17 43093580 54409 TTA T . . ALLELEID=69076;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093582_43093583del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508921 17 43093581 409311 T TA . . ALLELEID=402520;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093582dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255480 17 43093583 54406 TCTCTTCACTG T . . ALLELEID=69073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093586_43093595del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508920 17 43093584 427348 C T . . AF_EXAC=0.00001;ALLELEID=416492;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093584C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=755706172 17 43093585 266203 TCTTCACTG T . . ALLELEID=261891;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093588_43093595del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039983 17 43093586 54408 C A . . ALLELEID=69075;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093586C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356907 17 43093587 233993 T C . . ALLELEID=236103;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43093587T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660781 17 43093589 266204 C A . . ALLELEID=261892;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093589C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039984 17 43093594 54405 CT C . . ALLELEID=69072;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093595del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508919 17 43093600 266202 CA C . . ALLELEID=261893;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093602del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942263;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039982 17 43093604 54402 T C . . ALLELEID=69069;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093604T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357105 17 43093605 187420 A G . . ALLELEID=185039;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093605A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203720 17 43093607 240777 C CA . . ALLELEID=242795;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093609dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878854935 17 43093607 54401 C G . . ALLELEID=69068;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093607C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2839556|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00066;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357344 17 43093609 37434 A AT . . ALLELEID=45990;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093612dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507194 17 43093609 91571 AT A . . ALLELEID=97048;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093612del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:10886604;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507194 17 43093613 266201 G A . . ALLELEID=261894;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093613G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039981 17 43093614 185345 C T . . ALLELEID=185041;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093614C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202103 17 43093615 54399 A T . . ALLELEID=69066;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093615A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285262|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853802;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357267 17 43093618 54398 TC T . . ALLELEID=69065;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093619del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2031&base_change%3Ddel_G|Invitae:4398760;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357933 17 43093619 54397 C A . . ALLELEID=69064;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093619C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357005 17 43093619 266200 CAGTA C . . ALLELEID=261895;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093620_43093623del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039980 17 43093620 54396 A G . . AF_EXAC=0.00011;ALLELEID=69063;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093620A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776056|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1215681;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=62625305 17 43093621 266199 GTACAA G . . ALLELEID=261896;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093623_43093627del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039979 17 43093624 54393 CA C . . ALLELEID=69060;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093626del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508916 17 43093626 136542 A G . . AF_ESP=0.00015;AF_EXAC=0.00003;ALLELEID=140245;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093626A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829611;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=369373293 17 43093630 266197 G GGTGGGCTTAGATTT . . ALLELEID=261897;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093631_43093644dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039977 17 43093632 54388 TG T . . ALLELEID=69055;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093635del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3884906|Breast_Cancer_Information_Core__(BRCA1):2017&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357851 17 43093636 548259 C CA . . ALLELEID=538864;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093636_43093637insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590964 17 43093637 125528 T TA . . ALLELEID=131066;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093637_43093638insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2012&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357768 17 43093638 54384 T C . . ALLELEID=69051;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093638T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2012&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356834 17 43093638 184306 T G . . AF_EXAC=0.00001;ALLELEID=185043;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093638T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356834 17 43093638 54383 T TA . . ALLELEID=69050;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093639dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2011&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357932 17 43093645 266196 CT C . . ALLELEID=261898;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093646del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039976 17 43093646 548273 T A . . ALLELEID=538865;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093646T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590987 17 43093646 54379 TACTG T . . ALLELEID=69046;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093650_43093653del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):2000&base_change%3Ddel_CAGT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357567 17 43093648 548233 C CGG . . ALLELEID=538866;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093648_43093649insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555590997 17 43093649 236267 T TGG . . ALLELEID=237836;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093650_43093651insGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878853289 17 43093650 185004 G A . . ALLELEID=185044;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093650G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356838 17 43093650 548202 G GAACT . . ALLELEID=538867;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093651_43093652insACTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591019 17 43093652 266195 C CACTA . . ALLELEID=261899;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093652_43093653insACTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039975 17 43093653 54376 T TACTA . . ALLELEID=69043;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093654_43093657dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1996&base_change%3Dins_TAGT|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285226|Invitae:1170482;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357516 17 43093655 91567 CT C . . ALLELEID=97044;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093656del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122646 17 43093656 184378 T C . . ALLELEID=185045;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43093656T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201429 17 43093661 54375 C A . . ALLELEID=69042;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093661C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356950 17 43093665 54372 C A . . ALLELEID=69039;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093665C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1985&base_change%3DG_to_T;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800064 17 43093665 182091 C T . . AF_EXAC=0.00002;ALLELEID=180870;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093665C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843889;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800064 17 43093666 54371 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=69038;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093666G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00065|Illumina_Laboratory_Services,Illumina:256634|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1830013;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56039126 17 43093668 184433 A G . . ALLELEID=185046;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43093668A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201460 17 43093670 182105 GA G . . ALLELEID=180871;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093672del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942273;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881459 17 43093676 37431 GC G . . ALLELEID=45987;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093678del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507193 17 43093682 37430 TAGA T . . ALLELEID=45986;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093683AGA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:11929;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001822|inframe_deletion,SO:0001627|intron_variant;ORIGIN=1;RS=80358329 17 43093683 266194 AG A . . ALLELEID=261900;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093684del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039974 17 43093684 54370 G GA . . ALLELEID=69037;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093686dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508914 17 43093685 548224 A AC . . ALLELEID=538868;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093685_43093686insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591112 17 43093686 266193 A AC . . ALLELEID=261901;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093686_43093687insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039973 17 43093687 254400 G GAC . . AF_EXAC=0.00001;ALLELEID=249143;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093688_43093689dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=767595162 17 43093689 184574 C T . . ALLELEID=185047;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43093689C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=760109939 17 43093690 254399 TTC T . . AF_EXAC=0.00001;ALLELEID=249144;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093691_43093692del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=752474843 17 43093691 54369 T A . . ALLELEID=69036;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093691T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285214;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357282 17 43093692 427297 C T . . AF_EXAC=0.00001;ALLELEID=416493;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093692C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=759157605 17 43093693 54368 CT C . . ALLELEID=69035;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093694del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1956&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357652 17 43093694 233617 T TC . . ALLELEID=236110;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093696dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660523 17 43093697 54367 T C . . AF_EXAC=0.00001;ALLELEID=69034;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093697T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852178;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357245 17 43093698 184578 C T . . ALLELEID=185049;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093698C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201548 17 43093699 54366 AG A . . ALLELEID=69033;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093700del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1321733;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508913 17 43093701 136080 C T . . AF_EXAC=0.00006;ALLELEID=139792;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43093701C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780796 17 43093704 427307 A G . . AF_EXAC=0.00001;ALLELEID=416494;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093704A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=757657445 17 43093704 254398 AT A . . ALLELEID=249145;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093706del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1944&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357736 17 43093704 54361 ATTCT A . . ALLELEID=69028;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093707_43093710del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1940&base_change%3Ddel_AAAG|Invitae:904409|Breast_Cancer_Information_Core__(BRCA1):1942&base_change%3Ddel_AGAA|Breast_Cancer_Information_Core__(BRCA1):1492&base_change%3Ddel_AGAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357585 17 43093707 54362 CT C . . ALLELEID=69029;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093712del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508911 17 43093707 266192 CTTTT C . . ALLELEID=261902;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093709_43093712del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508911 17 43093712 54358 T A . . ALLELEID=69025;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093712T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357220 17 43093713 54357 AG A . . ALLELEID=69024;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093715del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508910 17 43093718 125513 CT C . . ALLELEID=131051;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093722del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1931&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357927 17 43093723 54356 G C . . ALLELEID=69023;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093723G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508909 17 43093725 54355 AT A . . ALLELEID=69022;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093727del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508908 17 43093727 266190 TG T . . ALLELEID=261903;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093728del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039970 17 43093731 240776 GA G . . ALLELEID=242796;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093732del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878854934 17 43093732 266188 ATATT A . . ALLELEID=261904;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093735_43093738del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039968 17 43093734 184539 A G . . AF_EXAC=0.00002;ALLELEID=185050;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093734A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=756211343 17 43093737 232242 T C . . ALLELEID=236112;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43093737T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659644 17 43093738 54352 A C . . AF_EXAC=0.00002;ALLELEID=69019;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093738A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357118 17 43093738 54351 A T . . ALLELEID=69018;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093738A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285196;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357118 17 43093742 54348 C A . . ALLELEID=69015;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093742C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285178;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55650082 17 43093742 41806 C T . . AF_ESP=0.00031;AF_EXAC=0.00006;ALLELEID=50245;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093742C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2504053|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:89300|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00064;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55650082 17 43093743 427314 G A . . AF_EXAC=0.00001;ALLELEID=416495;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093743G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=779253414 17 43093745 266187 GTTCCATA G . . ALLELEID=261905;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093748_43093754del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039967 17 43093750 431219 AT A . . ALLELEID=424843;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093751del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401848 17 43093755 231027 G A . . ALLELEID=236114;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093755G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658911 17 43093758 54346 TA T . . AF_EXAC=0.00001;ALLELEID=69013;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093759del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1891&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357901 17 43093761 231505 ACT G . . ALLELEID=236115;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093761_43093763delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659196 17 43093766 246392 TGC T . . ALLELEID=245046;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093767_43093768del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879254237 17 43093768 266185 C CT . . ALLELEID=261906;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093770dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039966 17 43093768 252868 CTTAT C . . ALLELEID=247269;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093769_43093772del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255479 17 43093770 389286 T G . . ALLELEID=375101;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093770T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1057523389 17 43093771 91563 AT A . . ALLELEID=97040;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093772del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122642 17 43093773 54343 AG A . . ALLELEID=69010;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093775del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1876&base_change%3Ddel_C|Invitae:1949910;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357723 17 43093775 266184 GTTCAGCT G . . ALLELEID=261907;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093779_43093785del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4110298;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039965 17 43093782 232140 T C . . ALLELEID=236116;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093782T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659580 17 43093784 54341 T A . . ALLELEID=69008;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093784T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356928 17 43093785 427309 C T . . AF_EXAC=0.00001;ALLELEID=416496;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093785C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=776115545 17 43093786 91561 GT G . . ALLELEID=97038;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093790del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122641 17 43093790 54339 T A . . ALLELEID=69006;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093790T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508905 17 43093796 254397 CAG C . . ALLELEID=249146;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093798_43093799del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037991 17 43093800 184373 T C . . AF_EXAC=0.00001;ALLELEID=185053;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093800T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897678 17 43093800 54336 TTC T . . ALLELEID=69003;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093802_43093803del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1848&base_change%3Ddel_GA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357834 17 43093802 54335 C A . . ALLELEID=69002;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093802C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285166;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508903 17 43093802 37428 C CT . . ALLELEID=45984;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093807dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:5898398;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507192 17 43093803 184030 T C . . ALLELEID=185054;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093803T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201232 17 43093804 548225 T TC . . ALLELEID=538869;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093804_43093805insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591326 17 43093807 438914 T TC . . ALLELEID=432914;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093808dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591335 17 43093808 266183 C A . . ALLELEID=261908;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093808C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508902 17 43093809 427326 G A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=416497;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093809G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855038;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=530914551 17 43093813 54331 GATTCT G . . ALLELEID=68998;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093817_43093821del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3263935|Breast_Cancer_Information_Core__(BRCA1):1832&base_change%3Ddel_AGAAT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357640 17 43093814 54333 A AT . . ALLELEID=69000;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093816dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508900 17 43093814 54332 AT A . . ALLELEID=68999;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093816del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942296;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508900 17 43093817 182135 C A . . ALLELEID=180873;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43093817C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881473 17 43093821 232651 T C . . ALLELEID=236120;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43093821T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659901 17 43093824 231352 G A . . ALLELEID=236121;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093824G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659110 17 43093827 136079 A C . . ALLELEID=139791;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093827A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780795 17 43093827 240775 A G . . ALLELEID=242797;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093827A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587780795 17 43093828 54329 G A . . ALLELEID=68996;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093828G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2603348|Illumina_Laboratory_Services,Illumina:223450;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356910 17 43093830 125508 A AT . . ALLELEID=131046;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093835dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1819&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357784 17 43093830 54327 AT A . . ALLELEID=68994;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093835del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357784 17 43093835 125507 T TC . . ALLELEID=131045;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093836dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1814&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273897664 17 43093838 266181 C A . . ALLELEID=261909;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093838C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039963 17 43093844 37426 G A . . AF_EXAC=0.00004;ALLELEID=45982;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_cancer|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43093844G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285142|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_595|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2471554|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:176885|Genologica_Medica:GNL0010;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356898 17 43093845 548154 A ACTTTC . . ALLELEID=538870;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093845_43093846insCTTTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591372 17 43093846 266177 ATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA CTTTC . . ALLELEID=261910;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093846_43093894delinsCTTTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=483353085 17 43093856 417825 C CT . . ALLELEID=404716;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093860dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357600 17 43093856 37425 CT C . . ALLELEID=45981;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43093860del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1793&base_change%3Ddel_A|Invitae:857854;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357600 17 43093856 54322 CTT C . . ALLELEID=68989;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093859_43093860del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1086164;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357600 17 43093857 548277 TTTTG T . . ALLELEID=538871;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093861_43093864del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591390 17 43093861 266180 GT G . . ALLELEID=261911;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093865del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039962 17 43093871 54320 C A . . ALLELEID=68987;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093871C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508894 17 43093876 54315 CCACTATTAGTAATATTCAT C . . ALLELEID=68982;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093881_43093899del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1755&base_change%3Ddel_19;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80359881 17 43093878 548265 A AG . . ALLELEID=538872;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093878_43093879insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591420 17 43093879 266179 C CG . . ALLELEID=261912;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093879_43093880insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Genologica_Medica:GNL0009;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039961 17 43093880 254396 T TA . . AF_EXAC=0.00001;ALLELEID=249147;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093881dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=753524038 17 43093881 427340 A G . . AF_EXAC=0.00001;ALLELEID=416498;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093881A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=777595821 17 43093881 54318 AT A . . ALLELEID=68985;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093883del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1768&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357619 17 43093883 37423 T G . . AF_ESP=0.00031;AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=45979;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093883T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778801|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00033|Illumina_Laboratory_Services,Illumina:440488;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56012641 17 43093885 431217 GTAATATTC T . . ALLELEID=424845;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093885_43093893delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401846 17 43093887 266178 AAT A . . ALLELEID=261913;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093888AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4093912;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039960 17 43093896 184612 C T . . AF_EXAC=0.00001;ALLELEID=185059;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093896C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=770842236 17 43093899 230123 T C . . ALLELEID=236124;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093899T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658401 17 43093901 54313 G A . . ALLELEID=68980;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093901G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285112;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356952 17 43093902 91560 AC A . . ALLELEID=97037;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093904del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122640 17 43093904 252430 CATTCT C . . ALLELEID=246850;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093905_43093909del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255314 17 43093905 266175 ATTCTGCTCCG A . . ALLELEID=261914;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093908_43093917del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039959 17 43093907 54312 T TC . . ALLELEID=68979;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093908dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2015483;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508891 17 43093910 54311 G A . . ALLELEID=68978;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093910G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285106;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356904 17 43093912 441292 TC T . . ALLELEID=435158;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093914del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591470 17 43093913 266176 C A . . ALLELEID=261915;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093913C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881471 17 43093914 185046 C T . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=185060;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093914C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:824642|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2532433;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=372002119 17 43093914 156184 CGTTTG C . . ALLELEID=165983;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093918_43093922del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:9574742;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587776480 17 43093915 54310 G A . . AF_ESP=0.00008;AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=68977;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093915G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357374 17 43093919 54309 G A . . ALLELEID=68976;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093919G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285100;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356893 17 43093919 54306 GGTTA G . . ALLELEID=68973;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093923_43093926del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1727&base_change%3Ddel_TAAC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357698 17 43093928 240774 CCT C . . ALLELEID=242798;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093929_43093930del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878854933 17 43093929 54305 C CT . . ALLELEID=68972;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093930dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508889 17 43093929 54302 CTGATTTA C . . ALLELEID=68969;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093931_43093937del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508888 17 43093930 225707 TG T . . ALLELEID=227564;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43093931del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850506;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=869320776 17 43093931 54303 G A . . ALLELEID=68970;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43093931G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=142074233 17 43093941 54301 TTCAGGAG T . . ALLELEID=68968;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093944_43093950del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1701&base_change%3Ddel_ACTCCTG|Invitae:4942321;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357613 17 43093950 96902 CTT C . . ALLELEID=102805;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093953_43093954del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=431825387 17 43093953 427361 T C . . AF_EXAC=0.00001;ALLELEID=416499;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093953T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=762642319 17 43093955 54299 G A . . ALLELEID=68966;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093955G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356984 17 43093955 252867 G GA . . ALLELEID=247268;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093957dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255478 17 43093955 266174 GA G . . ALLELEID=261916;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093957del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255478 17 43093960 54296 GC G . . ALLELEID=68963;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43093962del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508886 17 43093962 427339 C T . . AF_EXAC=0.00001;ALLELEID=416500;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093962C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=766934857 17 43093964 548306 A AG . . ALLELEID=538874;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093964_43093965insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591551 17 43093967 54292 CTGC TTTA . . ALLELEID=68959;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093967_43093970delinsTTTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508883 17 43093968 427318 T C . . AF_EXAC=0.00001;ALLELEID=416501;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093968T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=754970915 17 43093969 125504 GC TA . . ALLELEID=131042;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093969_43093970delinsTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273897663 17 43093974 17685 CT C . . ALLELEID=32724;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43093976del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1675&base_change%3Ddel_A|OMIM_Allelic_Variant:113705.0026|Invitae:1466877;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357662 17 43093979 54289 TA T . . ALLELEID=68956;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093983del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1144668|Breast_Cancer_Information_Core__(BRCA1):1670&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357630 17 43093981 232164 AAATCCTCA CG . . ALLELEID=236125;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43093981_43093989delinsCG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659591 17 43093988 254395 C A . . ALLELEID=249148;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43093988C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037990 17 43093997 37420 G A . . ALLELEID=45976;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43093997G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2474241;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41286294 17 43093999 548314 CCTGATGTAGGT C . . ALLELEID=538875;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094002_43094012del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:10708520;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591596 17 43094000 54287 CT C . . ALLELEID=68954;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094001del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4485207|Breast_Cancer_Information_Core__(BRCA1):1649&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357735 17 43094002 54286 G C . . ALLELEID=68953;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094002G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357427 17 43094002 266173 G T . . ALLELEID=261917;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094002G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357427 17 43094004 427271 T C . . ALLELEID=416502;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094004T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692082 17 43094007 427337 A G . . AF_EXAC=0.00002;AF_TGP=0.00040;ALLELEID=416503;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094007A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=200616937 17 43094007 54285 AG A . . ALLELEID=68952;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094009del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1642&base_change%3Ddel_C|Invitae:2328617;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357782 17 43094009 54282 GTCTCC G . . ALLELEID=68949;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094011_43094015del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508879 17 43094012 54283 T A . . ALLELEID=68950;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094012T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508880 17 43094012 125503 TC T . . ALLELEID=131041;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094014del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1637&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357947 17 43094016 548280 T TA . . ALLELEID=538876;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094016_43094017insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591635 17 43094017 54281 T TA . . ALLELEID=68948;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094017_43094018insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508878 17 43094018 54280 T A . . ALLELEID=68947;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094018T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508877 17 43094018 91554 T TA . . ALLELEID=97031;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094019dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122636 17 43094019 54279 A AC . . ALLELEID=68946;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094020dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1630&base_change%3Dins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357817 17 43094020 54278 C T . . AF_ESP=0.00008;AF_EXAC=0.00007;AF_TGP=0.00020;ALLELEID=68945;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094020C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285070|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00063|Illumina_Laboratory_Services,Illumina:891383;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56272539 17 43094020 37418 CG C . . AF_EXAC=0.00001;ALLELEID=45974;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094021del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1629&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357908 17 43094020 54273 CGCTTT C . . ALLELEID=68940;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094021_43094025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508876 17 43094021 231406 GCTTTA G . . ALLELEID=236126;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094022_43094026del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659139 17 43094021 266169 GCTTTAATTTATTT G . . ALLELEID=261918;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094022_43094034del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039954 17 43094022 54270 C CTTTAATTTAT . . ALLELEID=68937;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094025_43094034dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001821|inframe_insertion,SO:0001627|intron_variant;ORIGIN=1;RS=397508873 17 43094022 54275 CT C . . ALLELEID=68942;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1627&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357506 17 43094022 37417 CTTTAA C . . ALLELEID=45973;CLNDISDB=Human_Phenotype_Ontology:HP:0100621,MONDO:MONDO:0003002,MedGen:C0013377|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN235586|MedGen:CN517202;CLNDN=Dysgerminoma|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|bilateral_breast_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094027_43094031del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:524907|Donald_Williams_Parsons_Laboratory,Baylor_College_of_Medicine:625080_1|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-18|Breast_Cancer_Information_Core__(BRCA1):1623&base_change%3Ddel_TTAAA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=7;RS=80357888 17 43094023 266170 TTTAA T . . ALLELEID=261919;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094026_43094029del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942343;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039955 17 43094025 187359 T C . . ALLELEID=185061;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094025T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203671 17 43094025 266171 TA T . . ALLELEID=261921;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094027del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039956 17 43094026 266172 A C . . ALLELEID=261920;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094026A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039957 17 43094026 254394 AATTT A . . ALLELEID=249149;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094027ATTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1616&base_change%3Ddel_AAAT;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357632 17 43094031 54271 AT A . . ALLELEID=68938;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094034del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508874 17 43094032 54266 TTTGTGAGGGGACGCTC T . . ALLELEID=68933;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094037_43094052del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942348;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508872 17 43094038 54268 AG A . . ALLELEID=68935;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094042del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1611&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357527 17 43094040 185686 G C . . ALLELEID=185062;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094040G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202374 17 43094042 142122 GA G . . ALLELEID=151836;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094043del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=587782251 17 43094044 41805 C T . . AF_ESP=0.00062;AF_EXAC=0.00047;ALLELEID=50244;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094044C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:142164|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00018|Illumina_Laboratory_Services,Illumina:735569|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775894|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.1487G>A;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897677 17 43094045 37416 G A . . AF_ESP=0.00008;AF_EXAC=0.00017;ALLELEID=45972;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094045G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285040|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:88051|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00026;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28897676 17 43094051 37415 G A . . ALLELEID=45971;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094051G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285034;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357010 17 43094053 187763 AT A . . ALLELEID=185063;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094055del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203982 17 43094060 54264 G A . . ALLELEID=68931;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094060G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285022;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=62625303 17 43094061 184840 T C . . AF_EXAC=0.00006;ALLELEID=185064;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094061T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2832120|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2305245;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=775032066 17 43094064 193695 C T . . ALLELEID=190858;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094064C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=794726997 17 43094066 54262 C A . . ALLELEID=68929;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094066C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357167 17 43094068 125501 G GT . . ALLELEID=131039;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094069dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1581&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357599 17 43094075 54258 A G . . AF_ESP=0.00031;AF_EXAC=0.00030;AF_TGP=0.00020;ALLELEID=68925;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094075A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778773|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00032|Illumina_Laboratory_Services,Illumina:440494;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55906931 17 43094081 54257 C A . . ALLELEID=68924;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094081C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285010;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357304 17 43094083 37413 ATAAT A . . ALLELEID=45969;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094086_43094089del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1563&base_change%3Ddel_ATTA;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357801 17 43094086 54253 AT A . . ALLELEID=68920;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094088del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1563&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357648 17 43094089 548255 A AT . . ALLELEID=538877;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094089_43094090insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591749 17 43094090 125500 G GT . . ALLELEID=131038;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43094090_43094091insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1559&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285004;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357778 17 43094091 54252 A AT . . ALLELEID=68919;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094095dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1558&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357505 17 43094093 266168 TTTCAGTTACA T . . ALLELEID=261922;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094095_43094104del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039953 17 43094095 417830 TCA T . . ALLELEID=404717;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094096_43094097del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060505050 17 43094096 96900 CA C . . ALLELEID=102803;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094097del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=431825386 17 43094108 266167 TTAAG T . . ALLELEID=261923;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094110_43094113del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039952 17 43094110 54250 A C . . ALLELEID=68917;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094110A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853576;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357490 17 43094112 185689 G A . . AF_EXAC=0.00002;ALLELEID=185065;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094112G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.1419C>T;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=777228325 17 43094113 54249 T A . . ALLELEID=68916;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094113T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357057 17 43094113 54248 T C . . AF_ESP=0.00008;ALLELEID=68915;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094113T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00062;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357057 17 43094115 427352 G A . . AF_EXAC=0.00001;ALLELEID=416504;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094115G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=752808917 17 43094118 266166 G GA . . ALLELEID=261924;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094119dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039951 17 43094122 252863 CTT C . . ALLELEID=247264;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094123_43094124del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255476 17 43094125 54244 GC G . . ALLELEID=68911;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094127del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508871 17 43094127 54243 CT C . . ALLELEID=68910;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43094129del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508870 17 43094130 184191 C T . . ALLELEID=185066;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094130C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201323 17 43094132 54241 T A . . ALLELEID=68908;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094132T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357279 17 43094135 548239 G GA . . ALLELEID=538878;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094136dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591796 17 43094137 54231 T TAGGTTTTCCC . . ALLELEID=68898;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094139_43094148dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508864 17 43094138 548181 A AC . . ALLELEID=538879;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094138_43094139insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591814 17 43094138 125499 A AG . . ALLELEID=131037;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094140dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1511&base_change%3Dins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357592 17 43094138 54238 AG A . . ALLELEID=68905;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094140del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357592 17 43094139 136541 G A . . AF_EXAC=0.00007;AF_TGP=0.00040;ALLELEID=140244;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094139G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458819|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2448225;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=533802049 17 43094139 431212 G GC . . ALLELEID=424850;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094139_43094140insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284956;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401845 17 43094140 266164 G GT . . ALLELEID=261925;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094144dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357770 17 43094140 54236 GT G . . ALLELEID=68903;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094144del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1506&base_change%3Ddel_A|Breast_Cancer_Information_Core__(BRCA1):1509&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357770 17 43094141 37409 TT C . . ALLELEID=45965;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094141_43094142delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1508&base_change%3Ddel_AA_ins_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273897659 17 43094141 54234 TTTT CTTTC . . ALLELEID=68901;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094141_43094144delinsCTTTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357770 17 43094144 54233 T TC . . ALLELEID=68900;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094147dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357722 17 43094144 54232 TC T . . ALLELEID=68899;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094147del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942368|Breast_Cancer_Information_Core__(BRCA1):1505&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357722 17 43094145 232413 C T . . ALLELEID=236133;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094145C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659749 17 43094147 54229 CA C . . ALLELEID=68896;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094150del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1502&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357879 17 43094148 54228 A T . . ALLELEID=68895;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094148A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_007765;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56046357 17 43094150 54226 A AT . . ALLELEID=68893;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094151dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:873759|Breast_Cancer_Information_Core__(BRCA1):1499&base_change%3Dins_A|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284920;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357714 17 43094150 54225 AT A . . ALLELEID=68892;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094151del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508863 17 43094151 266163 TA T . . ALLELEID=261926;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094152del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039949 17 43094152 266162 A AT . . ALLELEID=261927;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094156dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122633 17 43094152 91550 ATT A . . ALLELEID=97027;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094155_43094156del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:10511299;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122633 17 43094156 266161 T A . . ALLELEID=261928;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094156T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039947 17 43094156 54224 TG T . . ALLELEID=68891;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094157del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508862 17 43094157 427249 G A . . ALLELEID=416505;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094157G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2470607;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879253999 17 43094159 54223 CT C . . ALLELEID=68890;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094161del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508861 17 43094166 548300 A ATC . . ALLELEID=538880;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094167_43094168insCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591846 17 43094169 91549 AC A . . ALLELEID=97026;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094170del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122632 17 43094169 37406 ACT A . . ALLELEID=45962;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094170CT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1262930|Breast_Cancer_Information_Core__(BRCA1):1479&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357969 17 43094174 125495 CT C . . ALLELEID=131033;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094175del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1475&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357939 17 43094176 266160 AC A . . ALLELEID=261929;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094177del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039946 17 43094179 54218 G C . . ALLELEID=68885;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094179G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356891 17 43094179 54217 G T . . ALLELEID=68884;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094179G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356891 17 43094183 266159 TG T . . ALLELEID=261930;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094185del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039945 17 43094185 266156 GAGTGAACTCTTTCACTTTT G . . ALLELEID=261931;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094187_43094205del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039942 17 43094189 548290 G GC . . ALLELEID=538881;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094189_43094190insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591909 17 43094189 182103 GAA G . . ALLELEID=180878;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094190_43094191del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881458 17 43094190 37401 A AC . . ALLELEID=45957;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094190_43094191insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357597 17 43094191 54206 A AC . . ALLELEID=68873;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094192dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508855 17 43094194 91546 C CT . . ALLELEID=97023;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094197dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357978 17 43094194 266158 CT C . . ALLELEID=261932;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094197del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357978 17 43094194 54205 CTT C . . ALLELEID=68872;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094196_43094197del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942382|Breast_Cancer_Information_Core__(BRCA1):1454&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357978 17 43094196 427284 T C . . ALLELEID=416506;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094196T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692094 17 43094197 266157 TC T . . ALLELEID=261933;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094198del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039943 17 43094198 54204 C A . . ALLELEID=68871;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094198C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284890;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356915 17 43094202 427305 T C . . AF_EXAC=0.00001;ALLELEID=416507;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094202T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=771892131 17 43094204 91545 T A . . ALLELEID=97022;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094204T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122630 17 43094204 91544 T TAC . . ALLELEID=97021;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094206_43094207dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1445&base_change%3Dins_GT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357543 17 43094205 54202 A T . . ALLELEID=68869;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094205A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2842342;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508854 17 43094206 54201 CAT C . . ALLELEID=68868;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094207AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1442&base_change%3Ddel_AT|Invitae:2093539;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357570 17 43094207 548167 A AT . . ALLELEID=538882;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094208dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591939 17 43094211 54198 T TA . . ALLELEID=68865;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094214dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357683 17 43094211 54197 TA T . . ALLELEID=68864;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094214del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1438&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357683 17 43094212 230733 A C . . ALLELEID=236135;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094212A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273897656 17 43094217 433697 CTCAT C . . ALLELEID=427561;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094218_43094221del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591959 17 43094222 266155 GAGGATC ACTTT . . ALLELEID=261934;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094222_43094228delinsACTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039941 17 43094223 186850 A G . . AF_EXAC=0.00002;ALLELEID=185068;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094223A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840415;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=770279083 17 43094231 224419 T TG . . ALLELEID=226206;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094233dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037786 17 43094233 54190 GC G . . ALLELEID=68857;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094235del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2599755|Breast_Cancer_Information_Core__(BRCA1):1416&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357794 17 43094236 54189 AGT TC . . ALLELEID=68856;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094236_43094238delinsTC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508852 17 43094237 220280 G A . . ALLELEID=222672;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094237G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2849991;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=864622454 17 43094238 54188 T TA . . ALLELEID=68855;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094240dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942390|Breast_Cancer_Information_Core__(BRCA1):1411&base_change%3Dins_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284848;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357528 17 43094238 91543 TA T . . ALLELEID=97020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094240del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4370327;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357528 17 43094239 54187 A C . . ALLELEID=68854;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883;CLNDN=Breast-ovarian_cancer,_familial_1|Fanconi_anemia,_complementation_group_S;CLNHGVS=NC_000017.11:g.43094239A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:113705.0044;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357346 17 43094242 266154 T TC . . ALLELEID=261935;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094243dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039940 17 43094242 548177 T TG . . ALLELEID=538883;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094242_43094243insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555591993 17 43094243 54186 C CT . . ALLELEID=68853;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094244dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4167649|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284836|Breast_Cancer_Information_Core__(BRCA1):1406&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357576 17 43094243 417824 CT C . . ALLELEID=404718;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094244del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060505045 17 43094252 54185 C A . . ALLELEID=68852;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094252C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508851 17 43094253 422431 TG T . . ALLELEID=410017;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094254del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064795775 17 43094254 266153 G C . . ALLELEID=261936;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094254G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039939 17 43094254 266152 G T . . ALLELEID=261937;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094254G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039939 17 43094254 54184 GA G . . ALLELEID=68851;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094256del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1395&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357766 17 43094256 183924 A T . . ALLELEID=185071;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094256A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201160 17 43094257 266151 G GA . . ALLELEID=261938;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094259dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039938 17 43094264 54181 A AAT . . ALLELEID=68848;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094265AT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4942393;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508850 17 43094265 54182 A AT . . ALLELEID=68849;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094266dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1384&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357809 17 43094265 54183 A C . . ALLELEID=68850;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094265A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357417 17 43094270 266150 C A . . ALLELEID=261939;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094270C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357046 17 43094273 254393 CT C . . ALLELEID=249150;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094274del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037988 17 43094274 383475 T A . . AF_EXAC=0.00001;ALLELEID=376017;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified;CLNHGVS=NC_000017.11:g.43094274T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=751690840 17 43094274 186634 T TA . . ALLELEID=185072;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094275dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203103 17 43094275 54177 AC A . . ALLELEID=68844;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094277del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1374&base_change%3Ddel_G|Invitae:2832112;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357535 17 43094277 185128 C T . . ALLELEID=185073;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094277C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201948 17 43094277 266149 CT C . . ALLELEID=261940;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094278del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039937 17 43094278 266148 T TC . . ALLELEID=261941;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094279dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942397;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039936 17 43094278 233760 TC T . . ALLELEID=236137;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094279del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660623 17 43094279 54176 C A . . ALLELEID=68843;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094279C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357083 17 43094279 267498 CA T . . ALLELEID=262975;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094279_43094280delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040899 17 43094284 54170 AGAACGTC A . . ALLELEID=68837;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094285_43094291del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1359&base_change%3Ddel_GACGTTC;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357964 17 43094289 184215 G A . . AF_ESP=0.00008;AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=185074;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094289G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=372400428 17 43094289 54171 G GT . . ALLELEID=68838;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094290dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1360&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357514 17 43094290 188403 T TC . . ALLELEID=186261;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094292dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786204260 17 43094290 548189 TC T . . ALLELEID=538884;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094292del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786204260 17 43094294 187539 A G . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=185075;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094294A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=574008372 17 43094296 231599 ACAT TG . . ALLELEID=236138;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094296_43094299delinsTG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659253 17 43094297 54169 CAT C . . ALLELEID=68836;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094298_43094299del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508848 17 43094300 266147 C CAGCT . . ALLELEID=261942;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094302_43094305dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039935 17 43094304 185871 T C . . AF_ESP=0.00008;ALLELEID=185076;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094304T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=149349675 17 43094306 252436 CT C . . ALLELEID=246851;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094309del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255320 17 43094309 266146 T A . . ALLELEID=261943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094309T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284806;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357253 17 43094311 37396 GCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA G . . ALLELEID=45952;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094314_43094356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507182 17 43094312 548307 C CT . . ALLELEID=538885;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094312_43094313insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592129 17 43094312 37397 CATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA C . . ALLELEID=45953;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094313_43094356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507183 17 43094313 54165 AT A . . ALLELEID=68832;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094316del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942406;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508846 17 43094315 37394 TTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA T . . ALLELEID=45950;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094316_43094356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397507180 17 43094316 184519 T C . . ALLELEID=185078;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094316T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201517 17 43094316 17665 TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA T . . ALLELEID=32704;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094318_43094357del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778543|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284794|OMIM_Allelic_Variant:113705.0006|Invitae:476337|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2211548|Breast_Cancer_Information_Core__(BRCA1):1294&base_change%3Ddel_40;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80359874 17 43094317 96896 G C . . ALLELEID=102799;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094317G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357481 17 43094317 54164 G T . . ALLELEID=68831;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094317G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357481 17 43094319 548221 T TAG . . ALLELEID=538889;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094319_43094320insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592174 17 43094320 266145 T TAG . . ALLELEID=261944;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094320_43094321insAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039934 17 43094320 266143 TCA T . . ALLELEID=261945;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094321_43094322del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039932 17 43094321 266144 C CA . . ALLELEID=261946;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094322dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039933 17 43094322 427296 A G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=416508;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094322A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=369363742 17 43094325 438910 C CT . . ALLELEID=432919;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094326dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592219 17 43094326 54162 TC T . . ALLELEID=68829;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094330del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1323&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357859 17 43094327 54161 C A . . ALLELEID=68828;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094327C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273897655 17 43094338 54160 G C . . ALLELEID=68827;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094338G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357068 17 43094338 54159 G T . . ALLELEID=68826;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094338G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357068 17 43094340 254392 GT G . . AF_EXAC=0.00001;ALLELEID=249151;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094341del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=748714307 17 43094342 54158 CA C . . ALLELEID=68825;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094343del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508845 17 43094350 548245 C CA . . ALLELEID=538890;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094350_43094351insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592299 17 43094351 266142 C CA . . ALLELEID=261947;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094351_43094352insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039931 17 43094352 54156 TAACA T . . ALLELEID=68823;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094353_43094356del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508844 17 43094356 266141 AG A . . ALLELEID=261948;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094357del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039930 17 43094358 427288 T C . . ALLELEID=416509;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094358T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850659;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692097 17 43094360 266140 C A . . ALLELEID=261949;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094360C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=562553169 17 43094364 54155 AC A . . ALLELEID=68822;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094365del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1285&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273897653 17 43094365 54154 CT C . . ALLELEID=68821;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094367del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:7887465|Breast_Cancer_Information_Core__(BRCA1):1284&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357985 17 43094371 54150 G GA . . ALLELEID=68817;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094375dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508842 17 43094371 54149 GAA G . . ALLELEID=68816;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094374_43094375del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508842 17 43094372 231852 A T . . ALLELEID=236139;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094372A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659403 17 43094376 233665 C T . . ALLELEID=236140;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094376C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660558 17 43094378 54148 A AC . . ALLELEID=68815;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094379dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508841 17 43094381 236266 C A . . ALLELEID=237837;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094381C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878853288 17 43094381 96895 CAT C . . ALLELEID=102798;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094382_43094383del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=431825384 17 43094382 240770 AT A . . ALLELEID=242801;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094384del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=878854930 17 43094387 252429 CTT C . . ALLELEID=246852;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094389_43094390del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255313 17 43094389 91539 TTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTC T . . ALLELEID=97016;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094395_43094450del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284710|Breast_Cancer_Information_Core__(BRCA1):1205&base_change%3Ddel_56|Invitae:933378;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80359875 17 43094390 54145 T A . . ALLELEID=68812;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094390T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357385 17 43094390 231732 T TC . . ALLELEID=236141;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43094391dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876659327 17 43094390 266139 TC T . . ALLELEID=261950;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094391del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039929 17 43094393 54144 G A . . ALLELEID=68811;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094393G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508840 17 43094395 431206 ATGCT A . . ALLELEID=424856;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094396_43094399del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401841 17 43094398 266138 CTGCTATTT C . . ALLELEID=261951;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094399_43094406del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039928 17 43094401 125488 C CT . . ALLELEID=131026;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094402dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1248&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357776 17 43094403 54140 AT A . . ALLELEID=68807;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094406del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2269689|Breast_Cancer_Information_Core__(BRCA1):1246&base_change%3Ddel_A|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_178|Invitae:2414856;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357821 17 43094407 254391 AG A . . ALLELEID=249152;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094408del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037987 17 43094407 54138 AGT A . . ALLELEID=68805;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094408GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508839 17 43094408 427273 G A . . ALLELEID=416510;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094408G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692084 17 43094408 54137 GTG A . . ALLELEID=68804;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094408_43094410delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1240&base_change%3Ddel_CAC_ins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273897652 17 43094409 37391 TG T . . ALLELEID=45947;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|none_provided;CLNHGVS=NC_000017.11:g.43094410del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1240&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357612 17 43094415 54135 C T . . ALLELEID=68802;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094415C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284740;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357468 17 43094416 54134 C T . . AF_EXAC=0.00001;ALLELEID=68801;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia,_complementation_group_S;CLNHGVS=NC_000017.11:g.43094416C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:113705.0043;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508838 17 43094418 230530 A G . . ALLELEID=236143;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094418A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658619 17 43094418 54133 AG A . . ALLELEID=68800;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094420del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508837 17 43094420 439442 GA G . . ALLELEID=433273;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094422del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840926;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592474 17 43094422 54130 ACAT A . . ALLELEID=68797;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_cancer|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094424_43094426del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1835837|Invitae:79667;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001822|inframe_deletion,SO:0001627|intron_variant;ORIGIN=1;RS=80358325 17 43094423 548288 C CAG . . ALLELEID=538891;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094424_43094425insGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592487 17 43094425 254390 T TC . . ALLELEID=249153;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094426dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592498 17 43094426 37390 C T . . AF_EXAC=0.00001;ALLELEID=45946;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094426C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00061|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776299;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=56056711 17 43094426 266137 CT C . . ALLELEID=261952;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094428del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039927 17 43094428 548183 T TG . . ALLELEID=538892;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094428_43094429insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592500 17 43094429 54128 C A . . ALLELEID=68795;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094429C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284728;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357139 17 43094429 125486 C CG . . ALLELEID=131024;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094429_43094430insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1220&base_change%3Dins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357665 17 43094430 54127 A AG . . ALLELEID=68794;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094431dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508836 17 43094431 54126 G GT . . ALLELEID=68793;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094432dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508835 17 43094433 229697 A G . . ALLELEID=236145;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094433A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658148 17 43094438 91540 T A . . ALLELEID=97017;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094438T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284722;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122627 17 43094438 54122 TAGGATTCTCTG T . . ALLELEID=68789;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094441_43094451del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841755|Breast_Cancer_Information_Core__(BRCA1):1201&base_change%3Ddel_11|Invitae:1451544|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:119128|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284692;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80359880 17 43094439 54125 AG A . . ALLELEID=68792;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094441del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508834 17 43094442 54124 AT A . . ALLELEID=68791;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094444del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942434|Breast_Cancer_Information_Core__(BRCA1):1207&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357954 17 43094443 54123 TTC T . . ALLELEID=68790;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094445CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4522056|Breast_Cancer_Information_Core__(BRCA1):1205&base_change%3Ddel_GA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357897 17 43094445 548321 C CT . . ALLELEID=538893;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094446dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592537 17 43094449 54121 G C . . ALLELEID=68788;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094449G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508833 17 43094449 548292 G GT . . ALLELEID=538894;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094449_43094450insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592544 17 43094451 254389 G T . . ALLELEID=249154;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094451G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037986 17 43094453 54116 ATGGCAGTTTC A . . ALLELEID=68783;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN221562;CLNDN=Breast-ovarian_cancer,_familial_1|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43094456_43094465del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508830 17 43094458 54117 AG A . . ALLELEID=68784;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094459del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1191&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357836 17 43094459 230917 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=236147;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094459G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=377310179 17 43094460 185419 T C . . ALLELEID=185082;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094460T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202159 17 43094463 54115 CT C . . ALLELEID=68782;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094464del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1186&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357796 17 43094464 41803 T C . . AF_ESP=0.04590;AF_EXAC=0.04407;AF_TGP=0.02177;ALLELEID=50242;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:C1527349|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Ductal_breast_carcinoma|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094464T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458781|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_177|Illumina_Laboratory_Services,Illumina:19826|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00014|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284680|UniProtKB_(protein):P38398#VAR_007762|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:19341|HGMD:CM014322;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1799950 17 43094465 54114 G A . . ALLELEID=68781;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43094465G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Genologica_Medica:GNL0007;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357215 17 43094466 54113 C T . . AF_ESP=0.00008;AF_EXAC=0.00019;AF_TGP=0.00020;ALLELEID=68780;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1184&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41286292 17 43094468 54111 T A . . ALLELEID=68778;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094468T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508829 17 43094472 54110 C T . . ALLELEID=68777;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43094472C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284674;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356935 17 43094473 54109 C T . . ALLELEID=68776;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094473C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284668;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356908 17 43094476 266136 TC T . . ALLELEID=261953;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094477del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039926 17 43094477 54108 C A . . AF_EXAC=0.00002;ALLELEID=68775;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094477C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357472 17 43094480 266135 TTC T . . ALLELEID=261954;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN235283;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|none_provided;CLNHGVS=NC_000017.11:g.43094481TC[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:7000792;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039925 17 43094483 266134 TCTCA T . . ALLELEID=261955;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094485_43094488del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039924 17 43094485 548267 T TGTGA . . ALLELEID=538895;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094485_43094486insGTGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592590 17 43094485 548315 TCA T . . ALLELEID=538896;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094486CA[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592601 17 43094486 54107 C A . . ALLELEID=68774;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094486C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2856052;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357338 17 43094486 266133 C CGTGA . . ALLELEID=261956;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094486_43094487insGTGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039923 17 43094487 254388 A T . . ALLELEID=249155;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094487A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037985 17 43094490 54106 CA C . . ALLELEID=68773;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094491del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508828 17 43094490 54105 CAG C . . ALLELEID=68772;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094491_43094492del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508827 17 43094491 254387 AG A . . ALLELEID=249156;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094495del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=749508254 17 43094495 37389 G A . . AF_EXAC=0.00021;ALLELEID=45945;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094495G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_008760|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2381174|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:465931;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357015 17 43094512 254386 A AC . . ALLELEID=249157;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094514dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357774 17 43094512 548294 A AT . . ALLELEID=538897;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094512_43094513insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592640 17 43094512 37387 AC A . . ALLELEID=45943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094514del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2336256|Breast_Cancer_Information_Core__(BRCA1):1137&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357774 17 43094513 548176 C CG . . ALLELEID=538898;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094513_43094514insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039921 17 43094513 266131 C CT . . ALLELEID=261957;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094513_43094514insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039921 17 43094514 266130 C CG . . ALLELEID=261958;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094514_43094515insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592653 17 43094514 54102 C CT . . ALLELEID=68769;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094521dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1135&base_change%3Dins_A|OMIM_Allelic_Variant:113705.0027|Invitae:646678|Breast_Cancer_Information_Core__(BRCA1):1129&base_change%3Dins_A|OMIM_Allelic_Variant:113705.0005|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284650;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357569 17 43094514 215867 C T . . ALLELEID=213328;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094514C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=863224416 17 43094514 37386 CT C . . ALLELEID=45942;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094521del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1135&base_change%3Ddel_A|Breast_Cancer_Information_Core__(BRCA1):1129&base_change%3Ddel_A|Invitae:2746394;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357569 17 43094515 37710 TTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATG T . . ALLELEID=46266;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094518_43094581del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1071&base_change%3Ddel_64;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80359872 17 43094517 234010 T C . . ALLELEID=236149;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094517T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876660793 17 43094519 54101 T A . . ALLELEID=68768;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094519T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284644;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508826 17 43094522 54100 C CT . . ALLELEID=68767;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094523dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1127&base_change%3Dins_A|OMIM_Allelic_Variant:113705.0004;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=67284603 17 43094523 266594 TGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC T . . ALLELEID=261959;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094524_43094587del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592683 17 43094528 230126 TG T . . ALLELEID=236151;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094531del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=876658404 17 43094530 54099 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=68766;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094530G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00060;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=41286290 17 43094534 184709 T C . . ALLELEID=185085;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094534T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850480|Illumina_Laboratory_Services,Illumina:1371684;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201634 17 43094535 55777 C A . . AF_EXAC=0.00002;ALLELEID=70444;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094535C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2381170;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356836 17 43094541 427264 A G . . ALLELEID=416511;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094541A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=978690648 17 43094542 188407 TCATTA T . . ALLELEID=186548;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094546_43094550del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776083;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786204262 17 43094544 185687 A G . . AF_EXAC=0.00007;ALLELEID=185086;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094544A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:138444|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2646460;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=774849810 17 43094544 55773 ATT A . . ALLELEID=70440;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094545_43094546del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509341 17 43094545 548220 T TG . . ALLELEID=538899;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094545_43094546insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592723 17 43094546 125481 T TG . . ALLELEID=131019;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094546_43094547insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1103&base_change%3Dins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357775 17 43094548 55772 CAT C . . ALLELEID=70439;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094549_43094550del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1100&base_change%3Ddel_AT|Invitae:945111;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=80357772 17 43094549 55770 ATG A . . ALLELEID=70437;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094551_43094552del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1099&base_change%3Ddel_CA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357610 17 43094550 55771 T C . . AF_ESP=0.00046;AF_EXAC=0.00085;AF_TGP=0.00060;ALLELEID=70438;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094550T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1100&base_change%3DA_to_G|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:161611|Illumina_Laboratory_Services,Illumina:116456|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459406|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775591;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800063 17 43094550 427266 T G . . ALLELEID=416512;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094550T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800063 17 43094551 266599 GT G . . ALLELEID=261960;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094554del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040337 17 43094556 184694 C T . . ALLELEID=185088;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094556C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786201624 17 43094562 184649 T A . . ALLELEID=185089;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094562T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=45586033 17 43094562 438947 TCCAGC T . . ALLELEID=432920;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094566_43094570del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:8944082;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592744 17 43094564 266598 CA C . . ALLELEID=261961;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094565del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040336 17 43094566 55768 GC G . . ALLELEID=70435;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094569del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1083&base_change%3Ddel_G|Invitae:2769267;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273903794 17 43094568 266597 C T . . ALLELEID=261962;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43094568C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040335 17 43094569 37712 C T . . AF_EXAC=0.00001;ALLELEID=46268;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094569C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776634|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:288046;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357292 17 43094569 55765 CA C . . ALLELEID=70432;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094570del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509340 17 43094570 55764 ATC A . . ALLELEID=70431;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094572_43094573del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1078&base_change%3Ddel_GA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=3;RS=397509339 17 43094572 266596 CT C . . ALLELEID=261963;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094573del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040334 17 43094573 427247 T G . . ALLELEID=416513;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094573T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692065 17 43094575 548317 T TAC . . ALLELEID=538900;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094575_43094576insAC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592770 17 43094576 254385 T TAC . . ALLELEID=249158;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094577_43094578insCA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1072&base_change%3Dins_TG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357690 17 43094577 266595 AT A . . ALLELEID=261964;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094578del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040333 17 43094577 55763 ATGTTG A . . ALLELEID=70430;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094578_43094582del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1068&base_change%3Ddel_CAACA;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357555 17 43094580 219860 T C . . AF_EXAC=0.00001;ALLELEID=222674;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094580T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=759419385 17 43094582 55762 G A . . ALLELEID=70429;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094582G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357211 17 43094585 37709 T C . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=46265;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094585T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:786122|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1830043;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=55874646 17 43094594 427257 A G . . ALLELEID=416514;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094594A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1131692072 17 43094594 91669 AG A . . ALLELEID=97146;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094595del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=398122709 17 43094597 431204 CA C . . ALLELEID=424858;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094598del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401839 17 43094600 55759 GC G . . ALLELEID=70426;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094601del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1049&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357689 17 43094601 37708 CT C . . ALLELEID=46264;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094602del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1048&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357844 17 43094603 55758 G A . . ALLELEID=70425;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094603G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Veritas_Genetics,Veritas_Genetics:647011;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509338 17 43094603 55757 GT G . . ALLELEID=70424;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094606del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509337 17 43094604 184110 T C . . AF_EXAC=0.00001;ALLELEID=185090;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094604T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=757936216 17 43094606 266592 T A . . ALLELEID=261965;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883;CLNDN=Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S;CLNHGVS=NC_000017.11:g.43094606T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=879255498 17 43094606 55755 TG T . . ALLELEID=70422;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094607del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509336 17 43094606 266591 TGC T . . ALLELEID=261966;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094607_43094608del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040331 17 43094607 55754 GC G . . AF_EXAC=0.00001;ALLELEID=70421;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094608del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1042&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357953 17 43094607 55753 GCT A . . ALLELEID=70420;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094607_43094609delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509335 17 43094607 55752 GCT G . . ALLELEID=70419;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094608_43094609del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1041&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357644 17 43094619 55751 GA G . . ALLELEID=70418;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094621del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1030&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357622 17 43094621 55750 AT A . . ALLELEID=70417;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094623del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509334 17 43094625 548159 A AG . . ALLELEID=538901;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094626dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592859 17 43094626 55749 GC G . . ALLELEID=70416;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094628del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1023&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273903793 17 43094627 548272 C CA . . ALLELEID=538902;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094627_43094628insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509333 17 43094628 125477 C CA . . ALLELEID=131015;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094628_43094629insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1021&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357726 17 43094633 266590 C A . . ALLELEID=261967;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094633C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040330 17 43094633 254384 CT C . . ALLELEID=249159;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094634del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037982 17 43094634 55744 TAC T . . ALLELEID=70411;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094636_43094637del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1013&base_change%3Ddel_TG|Breast_Cancer_Information_Core__(BRCA1):1014&base_change%3Ddel_GT|Invitae:1425860;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357670 17 43094635 188406 A ACATT . . ALLELEID=186549;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094637ATTC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):1014&base_change%3Dins_AATG|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1779017;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357806 17 43094635 419578 ACATTC GA . . ALLELEID=410021;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094635_43094640delinsGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064793967 17 43094640 812549 C A . . ALLELEID=800792;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094640C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357103 17 43094640 55743 C T . . AF_EXAC=0.00001;ALLELEID=70410;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094640C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00118;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357103 17 43094642 409359 TTCTG T . . ALLELEID=402067;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094646_43094649del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:810832;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1060502359 17 43094644 225727 CT C . . ALLELEID=227567;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094645del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=869320786 17 43094644 188405 CTG C . . ALLELEID=186550;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094646_43094647del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1777034;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786204261 17 43094645 431203 T A . . ALLELEID=424859;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094645T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287992;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=748675395 17 43094646 431202 GTCTTT G . . ALLELEID=424860;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094647_43094651del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1135401838 17 43094648 125465 CT C . . ALLELEID=131003;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094651del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:6815073|Breast_Cancer_Information_Core__(BRCA1):1001&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357587 17 43094651 548186 TAGTG T . . ALLELEID=538903;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094655_43094658del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5898438;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555592938 17 43094651 265362 TAGTGAGTAATAAACTGCTGTTCTCATGCTGTA T . . ALLELEID=260174;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094653_43094684del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039501 17 43094652 427356 A C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=416515;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094652A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=139433219 17 43094655 427344 G A . . AF_EXAC=0.00001;ALLELEID=416516;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094655G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=771001707 17 43094655 254383 GA G . . ALLELEID=249160;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094656del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037981 17 43094656 266589 AG A . . ALLELEID=261968;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094657del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040329 17 43094657 266588 G GT . . ALLELEID=261969;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094658dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040328 17 43094662 182128 A C . . ALLELEID=180883;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094662A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=730881468 17 43094668 266586 C CTG . . ALLELEID=261970;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094670_43094671dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040326 17 43094668 266587 CT C . . ALLELEID=261971;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094669del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040327 17 43094675 254382 C A . . ALLELEID=249161;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094675C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886037980 17 43094678 55740 GCT G . . ALLELEID=70407;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094679_43094680del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):970&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357719 17 43094680 55735 T TGTAATGA . . ALLELEID=70402;CLNDISDB=Human_Phenotype_Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:ORPHA780|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Rhabdomyosarcoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094682_43094688dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287980|Breast_Cancer_Information_Core__(BRCA1):969&base_change%3Dins_TCATTAC|Invitae:4093811;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357989 17 43094681 55738 G A . . ALLELEID=70405;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094681G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509330 17 43094683 55737 A C . . ALLELEID=70404;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094683A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273902792 17 43094683 55736 A T . . ALLELEID=70403;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094683A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=273902792 17 43094684 17683 ATGAG A . . ALLELEID=32722;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094685_43094688del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:113705.0024|Breast_Cancer_Information_Core__(BRCA1):962&base_change%3Ddel_CTCA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357919 17 43094686 427236 G T . . ALLELEID=416229;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094686G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Genologica_Medica:GNL0006;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786203027 17 43094688 254381 G GCT . . ALLELEID=249162;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094689_43094690dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):961&base_change%3Dins_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357792 17 43094692 55731 G C . . AF_EXAC=0.00012;ALLELEID=70398;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094692G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2633168|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00059;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357199 17 43094694 224429 A G . . AF_EXAC=0.00001;ALLELEID=226207;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094694A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=775477245 17 43094694 266584 ATGAGTATT A . . ALLELEID=261972;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094697_43094704del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040324 17 43094695 55729 TG T . . ALLELEID=70396;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094696del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):954&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357523 17 43094696 548271 G GT . . ALLELEID=538904;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094696_43094697insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555593007 17 43094697 184380 A C . . AF_EXAC=0.00002;ALLELEID=185092;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094697A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=762956862 17 43094698 266585 G GT . . ALLELEID=261973;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094699dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040325 17 43094700 266583 ATT A . . ALLELEID=261974;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094702_43094703del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040323 17 43094702 548164 T TA . . ALLELEID=538905;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094702_43094703insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555593017 17 43094703 184319 T C . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=185093;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094703T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2831004;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=186274774 17 43094703 441387 TGTG ATT . . ALLELEID=435168;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094703_43094706delinsATT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555593020 17 43094704 37706 G C . . AF_EXAC=0.00002;ALLELEID=46262;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094704G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287968;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357436 17 43094706 55727 G A . . AF_EXAC=0.00006;AF_TGP=0.00040;ALLELEID=70394;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094706G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2409113;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509328 17 43094706 55723 G GCCACATGGCT . . ALLELEID=70390;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094714_43094723dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:113705.0029|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2400665|Invitae:220147;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=387906563 17 43094706 55722 G GCCACATGGCTC . . ALLELEID=70389;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094708_43094718dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555593031 17 43094707 55726 C T . . AF_EXAC=0.00010;ALLELEID=70393;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094707C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830068|Illumina_Laboratory_Services,Illumina:663215;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509327 17 43094708 55725 C T . . AF_EXAC=0.00067;AF_TGP=0.00040;ALLELEID=70392;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094708C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:465791|UniProtKB_(protein):P38398#VAR_019944|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838388|Illumina_Laboratory_Services,Illumina:681702;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=8176153 17 43094709 55724 A T . . ALLELEID=70391;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094709A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357331 17 43094712 427325 T C . . AF_EXAC=0.00001;ALLELEID=416517;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified;CLNHGVS=NC_000017.11:g.43094712T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=779225364 17 43094713 266580 G GGCTCCACATGC . . ALLELEID=261975;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094714_43094724dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040320 17 43094714 548169 G GTCCACATGGA . . ALLELEID=538906;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094714_43094715insTCCACATGGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555593043 17 43094715 266582 C CTCCACATGGA . . ALLELEID=261976;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094723_43094724insGATCCACATG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040322 17 43094717 266581 C A . . ALLELEID=261977;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094717C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040321 17 43094721 427327 A G . . AF_EXAC=0.00001;ALLELEID=416518;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094721A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=778359104 17 43094721 55714 AT A . . ALLELEID=70381;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094722del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2853601|Breast_Cancer_Information_Core__(BRCA1):928&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357965 17 43094724 136540 C T . . AF_ESP=0.00031;AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=140243;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094724C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2470380;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=149867679 17 43094724 409314 CAAGTTTGAAAC T . . ALLELEID=402719;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094724_43094735delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1064792958 17 43094731 55713 G C . . ALLELEID=70380;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094731G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357392 17 43094731 55709 G GA . . ALLELEID=70376;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094734dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942495;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357724 17 43094731 431201 G T . . ALLELEID=424861;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094731G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287962;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357392 17 43094731 37698 GAA G . . ALLELEID=46254;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094733_43094734del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:858056|Breast_Cancer_Information_Core__(BRCA1):917&base_change%3Ddel_TT|Breast_Cancer_Information_Core__(BRCA1):916&base_change%3Ddel_TT;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357724 17 43094735 55707 CAG C . . ALLELEID=70374;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094737_43094738del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):913&base_change%3Ddel_CT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357955 17 43094736 55708 A G . . AF_EXAC=0.00022;AF_TGP=0.00020;ALLELEID=70375;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094736A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2607075|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:465744;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201441987 17 43094742 266579 A AC . . ALLELEID=261978;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094745dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040319 17 43094742 55702 A G . . ALLELEID=70369;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094742A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=397509320 17 43094745 55698 C T . . ALLELEID=70365;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094745C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=397509317 17 43094746 266578 TG T . . ALLELEID=261979;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094747del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040318 17 43094747 254380 G A . . ALLELEID=249163;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094747G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037979 17 43094748 37697 A C . . ALLELEID=46253;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094748A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844117|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287932;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357321 17 43094751 266577 C CTT . . ALLELEID=261980;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094754_43094755dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040317 17 43094755 55697 TC T . . ALLELEID=70364;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094756del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):894&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357628 17 43094760 548212 A AT . . ALLELEID=538908;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094761dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555593134 17 43094760 548242 A ATC . . ALLELEID=538907;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094761_43094762insCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555593134 17 43094763 183872 C T . . AF_EXAC=0.00002;ALLELEID=185096;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094763C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2425111;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=746067447 17 43094765 427300 T G . . AF_EXAC=0.00001;ALLELEID=416519;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094765T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=587781833 17 43094768 55693 C A . . ALLELEID=70360;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094768C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357009 17 43094772 427254 T A . . ALLELEID=416520;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094772T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692069 17 43094775 184217 A G . . ALLELEID=185097;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094775A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201338 17 43094779 266576 TTC T . . ALLELEID=261981;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094780TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040316 17 43094781 427360 C T . . AF_EXAC=0.00001;ALLELEID=416521;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43094781C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=762867923 17 43094784 254379 AGT A . . ALLELEID=249164;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094786_43094787del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:8629446;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037978 17 43094785 548219 G GT . . ALLELEID=538909;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094786dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555593207 17 43094786 409361 TG T . . ALLELEID=402543;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094788del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1060502360 17 43094787 224432 G C . . ALLELEID=226208;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094787G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=886037791 17 43094787 266575 G GT . . ALLELEID=261982;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094787_43094788insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040315 17 43094788 55686 G GT . . ALLELEID=70353;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094789dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509314 17 43094793 240830 C T . . ALLELEID=242805;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43094793C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=768416164 17 43094793 55683 CA C . . ALLELEID=70350;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43094796del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:661310;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509312 17 43094794 254378 A T . . ALLELEID=249165;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094794A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037977 17 43094795 41835 A C . . AF_ESP=0.00023;AF_EXAC=0.00022;AF_TGP=0.00020;ALLELEID=50274;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43094795A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:621258|Institute_for_Biomarker_Research,_Medical_Diagnostic_Laboratories,_L.L.C.:IBR-19|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:137789|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00017|UniProtKB_(protein):P38398#VAR_070471|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1829766;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=28897675 17 43094799 55681 AT A . . ALLELEID=70348;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094801del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):850&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357700 17 43094800 548222 T TTACTGGGTTGATGATGTTCAGTATTTGTTAC . . ALLELEID=538910;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094802_43094803insCTGGGTTGATGATGTTCAGTATTTGTTACTA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555593246 17 43094801 266574 T TTACTGGGTTGATGATGTTCAGTATTTGTTAC . . ALLELEID=261983;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094801_43094802insTACTGGGTTGATGATGTTCAGTATTTGTTAC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040314 17 43094813 266573 G A . . ALLELEID=261984;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094813G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287920;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040313 17 43094815 55677 T C . . ALLELEID=70344;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094815T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_007760;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357396 17 43094815 252397 TG T . . ALLELEID=246826;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094816del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255294 17 43094823 266571 AG A . . ALLELEID=261985;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094824del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040311 17 43094826 266570 AT A . . ALLELEID=261986;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094829del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040310 17 43094826 431200 ATTTGT A . . ALLELEID=424862;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094828_43094832del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401837 17 43094832 185425 T C . . ALLELEID=185099;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094832T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786202162 17 43094832 37695 TAC T . . ALLELEID=46251;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43094834_43094835del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:330923|Breast_Cancer_Information_Core__(BRCA1):816&base_change%3Ddel_GT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357747 17 43094835 433694 A AT . . ALLELEID=427564;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094836dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555593302 17 43094838 55671 C A . . ALLELEID=70338;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094838C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=62625298 17 43094838 55670 C T . . AF_EXAC=0.00004;ALLELEID=70337;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43094838C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=62625298 17 43094838 266567 CGTCT C . . ALLELEID=261987;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43094839_43094842del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040308 17 43094845 55666 GA G . . ALLELEID=70333;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094849del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:23495|Breast_Cancer_Information_Core__(BRCA1):804&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357824 17 43094852 252435 C A . . ALLELEID=246853;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43094852C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255319 17 43094852 548296 C CG . . ALLELEID=538911;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094852_43094853insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555593321 17 43094853 55665 A T . . ALLELEID=70332;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43094853A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509308 17 43094854 37693 CA C . . ALLELEID=46249;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43094856del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:1125734|Breast_Cancer_Information_Core__(BRCA1):795&base_change%3Ddel_T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2335746;GENEINFO=BRCA1:672;ORIGIN=1;RS=80357941 17 43095038 209444 C T . . AF_TGP=0.00759;ALLELEID=206403;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43095038C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176151 17 43095103 209445 A ATAC . . ALLELEID=206404;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43095103_43095104insTAC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200368134 17 43095105 127125 A ACCT . . ALLELEID=132628;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43095106_43095108dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=7;RS=5820483 17 43095587 209447 A C . . ALLELEID=206406;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43095587A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7503154 17 43095590 209448 A C . . AF_TGP=0.00240;ALLELEID=206407;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43095590A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=182524124 17 43095830 142297 C T . . AF_ESP=0.00008;AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=152011;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43095830C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199916228 17 43095847 427250 C T . . ALLELEID=416522;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43095847C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692066 17 43095864 186042 A G . . AF_EXAC=0.00001;ALLELEID=185101;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43095864A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=765950064 17 43095875 37689 T C . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=46245;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43095875T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778441;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=55680408;CLNDISDBINCL=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDNINCL=Breast-ovarian_cancer,_familial_1;CLNSIGINCL=236265:Benign 17 43095877 427265 C T . . ALLELEID=416523;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43095877C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692078 17 43095913 184511 A G . . ALLELEID=185103;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43095913A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201512 17 43095924 37686 T G . . AF_ESP=0.00008;ALLELEID=46242;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43095924T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287848|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:461925|Breast_Cancer_Information_Core__(BRCA1):713-2&base_change%3DA_to_C;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358033;CLNDISDBINCL=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDNINCL=Breast-ovarian_cancer,_familial_1;CLNSIGINCL=236265:Benign 17 43096147 209449 C T . . AF_TGP=0.33506;ALLELEID=206408;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43096147C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176147 17 43096376 264829 C CAAAAAAAAAAA . . ALLELEID=259579;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43096384_43096394dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=71160005 17 43096380 264836 A G . . AF_TGP=0.00459;ALLELEID=259580;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43096380A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=537806106 17 43096467 209450 G C . . AF_TGP=0.33486;ALLELEID=206409;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43096467G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=66499067 17 43096544 264812 C G . . AF_TGP=0.00319;ALLELEID=259581;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43096544C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=189108346 17 43096571 264852 CA C . . ALLELEID=259582;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43096590del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34226398 17 43096887 264787 G A . . AF_TGP=0.00679;ALLELEID=259583;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43096887G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176146 17 43097077 209451 A G . . AF_TGP=0.35264;ALLELEID=206410;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43097077A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176145 17 43097246 55642 G A . . AF_ESP=0.00123;AF_EXAC=0.00147;AF_TGP=0.00040;ALLELEID=70309;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43097246G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1775730|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:52269|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287842|Breast_Cancer_Information_Core__(BRCA1):710&base_change%3DC_to_T|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_159|Illumina_Laboratory_Services,Illumina:134457;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1799965 17 43097249 427256 A G . . ALLELEID=416524;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43097249A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692071 17 43097258 427322 C T . . AF_EXAC=0.00001;ALLELEID=416525;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43097258C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=759197544 17 43097266 37684 C T . . AF_ESP=0.00031;AF_EXAC=0.00030;AF_TGP=0.00220;ALLELEID=46240;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43097266C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:114583|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00058|Illumina_Laboratory_Services,Illumina:656668|UniProtKB_(protein):P38398#VAR_070468;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357090 17 43097267 184512 G A . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=185104;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43097267G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1835926|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840634|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:131506;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=201536070 17 43097267 184888 G T . . ALLELEID=185105;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43097267G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=201536070 17 43097270 55639 A G . . ALLELEID=70306;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43097270A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356845 17 43097273 184268 T C . . AF_EXAC=0.00004;ALLELEID=185106;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43097273T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2841733;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=768065826 17 43097280 55635 G T . . AF_ESP=0.00231;AF_EXAC=0.00094;AF_TGP=0.00300;ALLELEID=70302;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43097280G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_070467|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776848|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:40169|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00057;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=55688530 17 43097306 37675 C A . . AF_EXAC=0.00017;AF_TGP=0.00020;ALLELEID=46231;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43097306C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00135|Breast_Cancer_Information_Core__(BRCA1):667-17&base_change%3DG_to_T|Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.548-17G>T;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358014 17 43097346 125889 TA T . . ALLELEID=131427;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43097353del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):667-58&base_change%3Ddel_T|Breast_Cancer_Information_Core__(BRCA1):667-57&base_change%3Ddel_T|Breast_Cancer_Information_Core__(BRCA1):667-64&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176144 17 43097369 209452 A G . . AF_TGP=0.00679;ALLELEID=206411;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43097369A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176143 17 43097582 209453 C T . . AF_TGP=0.00739;ALLELEID=206412;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43097582C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117281398 17 43098010 209454 G C . . AF_TGP=0.08427;ALLELEID=206413;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43098010G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799918 17 43098204 209455 AT A . . ALLELEID=206414;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43098211del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200081820 17 43098424 209456 T C . . AF_TGP=0.00379;ALLELEID=206415;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43098424T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145668291 17 43098566 209457 C T . . AF_TGP=0.00379;ALLELEID=206416;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43098566C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=181936042 17 43098661 209458 C CT . . AF_TGP=0.35264;ALLELEID=206417;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43098661_43098662insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35693790 17 43098877 209459 G C . . AF_TGP=0.01558;ALLELEID=206418;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43098877G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143460481 17 43098906 209460 T C . . AF_TGP=0.54812;ALLELEID=206419;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43098906T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799919 17 43098983 264822 AT A . . ALLELEID=259584;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099002del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=577010874 17 43099409 209461 TAC T . . ALLELEID=206420;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099411_43099412del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201060127 17 43099453 209462 T C . . AF_TGP=0.00300;ALLELEID=206421;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099453T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142085161 17 43099478 209463 C G . . AF_TGP=0.33586;ALLELEID=206422;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43099478C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176141 17 43099491 209464 G A . . AF_TGP=0.05411;ALLELEID=206423;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43099491G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7219966 17 43099629 125879 T A . . AF_TGP=0.35264;ALLELEID=131417;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43099629T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):666+146&base_change%3DA_to_T;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176140 17 43099773 37674 A T . . ALLELEID=46230;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43099773A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287764|Breast_Cancer_Information_Core__(BRCA1):666+2&base_change%3DT_to_A;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358047 17 43099774 55590 C A . . AF_EXAC=0.00001;ALLELEID=70257;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43099774C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):666+1&base_change%3DG_to_T|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287758;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358030 17 43099779 37671 T C . . ALLELEID=46227;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43099779T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2856186;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=397507250 17 43099785 55555 GT G . . ALLELEID=70222;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43099786del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509273 17 43099786 37661 T C . . AF_ESP=0.00031;AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=46217;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43099786T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:440500|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287698|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778746|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00031;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=56187033 17 43099790 220026 C CA . . ALLELEID=222676;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099791dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=864622350 17 43099790 266546 CA C . . ALLELEID=261988;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099791del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040290 17 43099792 55512 GA G . . ALLELEID=70179;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099793del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):648&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357758 17 43099794 136538 C T . . AF_ESP=0.00023;AF_EXAC=0.00007;ALLELEID=140241;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43099794C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2633837;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=34545365 17 43099800 184034 T C . . AF_EXAC=0.00001;ALLELEID=185109;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43099800T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723092;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=765432756 17 43099801 55460 TG T . . ALLELEID=70127;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43099802del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):639&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357639 17 43099802 224417 GA G . . ALLELEID=226209;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099803del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037784 17 43099803 231469 A T . . ALLELEID=236159;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43099803A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876659179 17 43099803 266531 AG A . . ALLELEID=261989;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099805del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040276 17 43099805 246360 GT G . . ALLELEID=245053;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43099807del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879254223 17 43099806 427332 T C . . AF_EXAC=0.00001;ALLELEID=416526;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099806T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=752940034 17 43099807 55421 TG T . . AF_EXAC=0.00001;ALLELEID=70088;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43099808del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):633&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357872 17 43099808 55420 G A . . AF_EXAC=0.00001;ALLELEID=70087;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43099808G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287464;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356947 17 43099809 141091 T TA . . ALLELEID=150805;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43099810dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:1141411;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587781487 17 43099811 417833 TC T . . ALLELEID=404719;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099813del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1060505052 17 43099814 55393 G A . . AF_EXAC=0.00001;ALLELEID=70060;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43099814G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_070466|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850269;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357325 17 43099815 185706 C T . . AF_EXAC=0.00001;ALLELEID=185110;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43099815C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=759882045 17 43099817 55367 G A . . ALLELEID=70034;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43099817G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287320;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357133 17 43099820 266514 T A . . ALLELEID=261990;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099820T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040263 17 43099820 266508 TTG T . . ALLELEID=261991;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099822_43099823del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040258 17 43099827 55329 C CA . . ALLELEID=69996;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43099828dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):613&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357762 17 43099827 415587 C T . . AF_EXAC=0.00002;ALLELEID=402089;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43099827C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=745321499 17 43099827 55323 CAG C . . ALLELEID=69990;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43099828AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509206 17 43099828 55324 AG A . . ALLELEID=69991;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099829del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):612&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357551 17 43099831 216107 GT G . . ALLELEID=213331;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099833del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=863224512 17 43099833 55308 TC T . . ALLELEID=69975;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43099834del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509202 17 43099835 266497 T TCA . . ALLELEID=261992;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099836CA[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357708 17 43099835 55304 TCA T . . ALLELEID=69971;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43099836CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):604&base_change%3Ddel_TG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357708 17 43099836 254640 C A . . ALLELEID=249183;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099836C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Department_of_Medical_Genetics,_University_Hospital_of_North_Norway:BRCA1_c.486G>T;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=769213707 17 43099836 140998 C CA . . ALLELEID=150712;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43099837dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587781427 17 43099844 55267 CAAGGTTAG C . . ALLELEID=69934;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43099846_43099853del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509190 17 43099845 427331 A G . . AF_EXAC=0.00001;ALLELEID=416527;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43099845A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=779704727 17 43099846 254377 AG A . . ALLELEID=249166;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099848del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037976 17 43099850 37608 TAG T . . ALLELEID=46164;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43099851AG[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:663491|Breast_Cancer_Information_Core__(BRCA1):589&base_change%3Ddel_CT;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=80357887 17 43099854 415569 G C . . AF_EXAC=0.00001;ALLELEID=402100;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43099854G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2843684;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=748923729 17 43099854 409363 GAGTTGGAC G . . ALLELEID=402553;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099856_43099863del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1060502362 17 43099855 37602 A AG . . ALLELEID=46158;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099856dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397507236 17 43099856 254376 GT G . . ALLELEID=249168;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43099858del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):583&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555594954 17 43099856 254375 GTT G . . ALLELEID=249167;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099857_43099858del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037974 17 43099859 55248 G A . . ALLELEID=69915;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43099859G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357180 17 43099859 55247 G C . . ALLELEID=69914;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43099859G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00056|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2844130;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357180 17 43099863 55232 ACT A . . ALLELEID=69899;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43099864_43099865del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509185 17 43099864 125874 CTG C . . ALLELEID=131412;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099865_43099866del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):575&base_change%3Ddel_CA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357882 17 43099865 232543 TG T . . ALLELEID=236164;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43099866del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876659830 17 43099876 409302 TC T . . ALLELEID=402143;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099878del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1060502327 17 43099877 417828 C A . . ALLELEID=404721;CLNDISDB=Human_Phenotype_Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Ovarian_carcinoma|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43099877C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=876658381 17 43099914 125864 G A . . AF_ESP=0.17569;AF_EXAC=0.17379;AF_TGP=0.09864;ALLELEID=131402;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43099914G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):561-34&base_change%3DC_to_T|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:18017;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799923 17 43100558 209466 G A . . ALLELEID=206424;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100558G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10445316 17 43100558 209465 GTA G . . ALLELEID=206425;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100559TA[6];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=530582154 17 43100560 209467 A G . . AF_TGP=0.05411;ALLELEID=206426;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100560A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799924 17 43100574 264796 C CAT . . ALLELEID=259585;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100576TA[5];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200639029 17 43100585 209469 CAT C . . ALLELEID=206428;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100586AT[4];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201678971 17 43100594 209470 A G . . AF_TGP=0.11562;ALLELEID=206429;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100594A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799925 17 43100595 209471 T A . . AF_TGP=0.29074;ALLELEID=206430;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100595T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10445317 17 43100596 209472 T C . . AF_TGP=0.29074;ALLELEID=206431;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100596T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10445318 17 43100609 209473 C CAT . . ALLELEID=206432;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100611TA[5];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200083681 17 43100617 264783 TAAC T . . ALLELEID=259586;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100619_43100621del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=538378944 17 43100689 264776 A ATGT . . ALLELEID=259587;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100690_43100691insGTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=574913562 17 43100863 209474 C T . . AF_TGP=0.00439;ALLELEID=206433;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43100863C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148500539 17 43101311 209475 C T . . AF_TGP=0.00300;ALLELEID=206434;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43101311C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111387199 17 43101650 209476 G C . . AF_TGP=0.01558;ALLELEID=206435;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43101650G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142854457 17 43102113 264779 C T . . AF_TGP=0.00200;ALLELEID=259588;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102113C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=545752115 17 43102132 209477 G A . . AF_TGP=0.00479;ALLELEID=206436;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102132G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=183687593 17 43102157 209478 A G . . AF_TGP=0.35344;ALLELEID=206437;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102157A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10445320 17 43102388 264778 C T . . AF_TGP=0.35344;ALLELEID=259589;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102388C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10445303 17 43102469 209479 T G . . AF_TGP=0.54812;ALLELEID=206438;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102469T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=10445321 17 43102706 209480 G A . . AF_TGP=0.00419;ALLELEID=206439;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102706G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34765977 17 43102739 264805 A T . . AF_TGP=0.00379;ALLELEID=259590;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102739A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=537597375 17 43102740 264786 T A . . AF_TGP=0.00379;ALLELEID=259591;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102740T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=556333401 17 43102743 209481 C A . . AF_TGP=0.00379;ALLELEID=206440;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102743C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139218576 17 43102801 209482 C T . . AF_TGP=0.00499;ALLELEID=206441;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102801C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149949159 17 43102948 264845 C CT . . ALLELEID=259592;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43102962dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=36085989 17 43103085 209483 A G . . AF_TGP=0.33526;ALLELEID=206442;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43103085A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=67060599 17 43103094 209484 A T . . AF_TGP=0.35324;ALLELEID=206443;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43103094A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35908185 17 43103254 209485 G A . . ALLELEID=206444;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43103254G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=184910839 17 43103842 209486 C T . . AF_TGP=0.00419;ALLELEID=206445;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43103842C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176137 17 43104058 264809 AAAAAAAAAAAAG A . . ALLELEID=259593;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104069_43104080del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=536390258 17 43104083 225704 AAAG A . . ALLELEID=227570;CLNDISDB=MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374;CLNDN=Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast|not_specified;CLNHGVS=NC_000017.11:g.43104086GAA[6];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147856441 17 43104120 236261 A C . . ALLELEID=237838;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104120A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=397509173 17 43104122 55186 CAAGG C . . ALLELEID=69853;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43104124AGGA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509168 17 43104124 198200 A G . . ALLELEID=195361;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104124A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=794727800 17 43104131 266469 A AT . . ALLELEID=261993;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104135dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509162 17 43104131 55167 AT A . . ALLELEID=69834;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43104135del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942556;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509162 17 43104136 37581 C A . . ALLELEID=46137;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43104136C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:66009|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286900|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2430764;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356991 17 43104136 37580 C T . . AF_EXAC=0.00010;ALLELEID=46136;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43104136C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00055|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:109468;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356991 17 43104137 183916 G A . . AF_EXAC=0.00003;AF_TGP=0.00020;ALLELEID=185111;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104137G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1972005|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:465655;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=542687218 17 43104138 41823 G T . . AF_EXAC=0.00005;ALLELEID=50262;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104138G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:186390|UniProtKB_(protein):P38398#VAR_070463|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00025;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=55971303 17 43104143 182085 A G . . AF_EXAC=0.00001;ALLELEID=180890;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43104143A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=730881448 17 43104144 266455 C CT . . ALLELEID=261994;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104145dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040212 17 43104144 55109 CTCTGTAG C . . ALLELEID=69776;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104145_43104151del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):531&base_change%3Ddel_CTACAGA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357816 17 43104146 187048 C CT . . ALLELEID=185114;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104147dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=786203432 17 43104148 55114 G A . . ALLELEID=69781;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104148G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357372 17 43104148 266445 GTAGA G . . ALLELEID=261995;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104149_43104152del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040203 17 43104151 441309 G GA . . ALLELEID=435173;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104153dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040205 17 43104151 266447 GA G . . ALLELEID=261996;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104153del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040205 17 43104155 266442 TC T . . ALLELEID=261997;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104156del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040200 17 43104156 55095 C CT . . ALLELEID=69762;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104160dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):525&base_change%3Dins_A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2840003;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357709 17 43104156 266438 CT C . . ALLELEID=261998;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43104160del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357709 17 43104160 252876 T A . . ALLELEID=247277;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104160T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286774;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879255485 17 43104162 55071 GCA G . . ALLELEID=69738;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104164_43104165del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):517&base_change%3Ddel_GT;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357568 17 43104165 254374 CG C . . ALLELEID=249169;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43104167del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037973 17 43104166 55067 G A . . ALLELEID=69734;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104166G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854831;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357457 17 43104167 55064 G T . . AF_EXAC=0.00002;ALLELEID=69731;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104167G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:670619|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00119|UniProtKB_(protein):P38398#VAR_070462|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459093|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2564969;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357413 17 43104172 55050 T A . . ALLELEID=69717;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104172T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357207 17 43104173 427269 G A . . AF_TGP=0.00020;ALLELEID=416528;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104173G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356888 17 43104173 254373 G C . . ALLELEID=249170;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104173G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356888 17 43104173 55046 G T . . AF_EXAC=0.00001;ALLELEID=69713;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104173G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286690;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356888 17 43104176 431198 GC G . . ALLELEID=424864;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104179del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1135401836 17 43104177 266411 CC G . . ALLELEID=261999;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104177_43104178delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040171 17 43104185 184064 T C . . ALLELEID=185115;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104185T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2834251;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201256 17 43104186 548289 T TA . . ALLELEID=538912;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104186_43104187insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555596382 17 43104187 427022 G A . . ALLELEID=415562;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104187G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1085307902 17 43104187 54993 G GA . . ALLELEID=69660;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104187_43104188insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397509101 17 43104190 266400 TG T . . ALLELEID=262000;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104191del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040160 17 43104191 54983 G T . . ALLELEID=69650;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104191G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):491&base_change%3DC_to_A;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=273900715 17 43104193 54971 T C . . ALLELEID=69638;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104193T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00054;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357448 17 43104194 427329 A T . . AF_EXAC=0.00004;ALLELEID=416529;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43104194A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=774583925 17 43104194 96914 AG A . . ALLELEID=102817;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104195del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=431825397 17 43104197 185214 A C . . AF_EXAC=0.00002;AF_TGP=0.00040;ALLELEID=185116;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104197A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2569319;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=190900046 17 43104198 266395 ACT A . . ALLELEID=262001;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104199_43104200del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040155 17 43104201 266393 T TC . . ALLELEID=262002;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43104202dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040152 17 43104205 266385 CT A . . ALLELEID=262003;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104205_43104206delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040144 17 43104208 266383 T A . . ALLELEID=262004;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104208T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040142 17 43104216 252400 TC T . . AF_EXAC=0.00001;ALLELEID=246827;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104217del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=762635795 17 43104219 54882 GGA G . . ALLELEID=69549;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104221AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):461&base_change%3Ddel_TC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357881 17 43104220 266370 GA G . . ALLELEID=262005;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Neoplasm_of_ovary|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104221del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=886040129 17 43104224 427299 G A . . AF_EXAC=0.00001;ALLELEID=416530;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104224G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=587779367 17 43104224 142716 GTTAT G . . ALLELEID=152430;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104227_43104230del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587782666 17 43104227 548240 A AT . . ALLELEID=538913;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104231dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040119 17 43104227 266359 AT A . . ALLELEID=262006;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104231del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040119 17 43104231 266354 TC T . . ALLELEID=262008;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104233del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040114 17 43104232 266352 C CT . . ALLELEID=262007;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104232_43104233insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040112 17 43104232 54826 CCT C . . ALLELEID=69493;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104233_43104234del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):448&base_change%3Ddel_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357754 17 43104233 54827 C CT . . ALLELEID=69494;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43104239dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286246|Breast_Cancer_Information_Core__(BRCA1):448&base_change%3Dins_A|Invitae:749262;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357604 17 43104233 240791 C T . . ALLELEID=242813;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104233C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=878854947 17 43104233 37521 CT C . . ALLELEID=46077;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104239del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:3707547;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357604 17 43104241 54799 CA C . . ALLELEID=69466;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104245del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):440&base_change%3Ddel_T|Invitae:2376768;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357544 17 43104245 54791 AT A . . ALLELEID=69458;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104247del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5898464|Breast_Cancer_Information_Core__(BRCA1):436&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357950 17 43104249 54780 T C . . AF_ESP=0.00008;AF_EXAC=0.00006;ALLELEID=69447;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089,SNOMED_CT:254878006|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283;CLNDN=Breast_neoplasm|Endometrial_carcinoma|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided;CLNHGVS=NC_000017.11:g.43104249T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00053|UniProtKB_(protein):P38398#VAR_070461|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2387160|Illumina_Laboratory_Services,Illumina:748020;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=28897673 17 43104252 418681 C CT . . ALLELEID=410032;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43104253dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555596484 17 43104252 266335 CT C . . ALLELEID=262009;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104253del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040097 17 43104254 232515 G A . . ALLELEID=236172;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104254G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876659814 17 43104258 37505 G C . . ALLELEID=46061;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104258G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357190 17 43104260 54758 A C . . ALLELEID=69425;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104260A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286102;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356936 17 43104260 427330 A G . . AF_EXAC=0.00001;ALLELEID=416531;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104260A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356936 17 43104260 266331 A T . . ALLELEID=262010;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43104260A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356936 17 43104262 54751 C G . . ALLELEID=69418;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104262C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00121;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358116 17 43104262 54753 CT C . . ALLELEID=69420;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43104263del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):421-2&base_change%3Ddel_A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2829614;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=273899695 17 43104302 264792 A G . . AF_EXAC=0.00229;AF_TGP=0.00379;ALLELEID=259594;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104302A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176135 17 43104331 209487 C T . . AF_TGP=0.00160;ALLELEID=206446;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43104331C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147809611 17 43104860 125666 A G . . AF_ESP=0.00054;AF_EXAC=0.00014;AF_TGP=0.00020;ALLELEID=131204;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43104860A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):420+8&base_change%3DT_to_C|Illumina_Laboratory_Services,Illumina:850195|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2535271;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358101 17 43104861 37499 C T . . AF_ESP=0.00023;AF_EXAC=0.00012;ALLELEID=46055;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104861C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):420+7&base_change%3DG_to_A|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2455239;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358113 17 43104877 54712 CTG C . . ALLELEID=69379;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43104879GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):409&base_change%3Ddel_CA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357738 17 43104878 427275 T C . . ALLELEID=416532;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104878T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692085 17 43104881 182084 G A . . AF_ESP=0.00008;ALLELEID=180891;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104881G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2645885;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=146085503 17 43104887 54652 CTGAAAAGCACAAA C . . ALLELEID=69319;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43104891_43104903del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):388&base_change%3Ddel_13;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80359879 17 43104889 254372 G A . . ALLELEID=249171;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104889G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886037972 17 43104894 156189 GCA G . . ALLELEID=165988;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104895CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4942586|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2854862;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=587776485 17 43104908 427354 C T . . AF_EXAC=0.00001;ALLELEID=416533;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104908C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=757971617 17 43104909 266284 A T . . ALLELEID=262011;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104909A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040054 17 43104911 427292 T A . . ALLELEID=416534;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104911T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=777491912 17 43104911 187586 T C . . ALLELEID=185120;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43104911T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=777491912 17 43104914 186047 C T . . ALLELEID=185121;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43104914C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=756499058 17 43104917 91588 TTCAACAAGTTG T . . ALLELEID=97065;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104918_43104928del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=398122659 17 43104919 91591 C A . . ALLELEID=97068;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104919C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=398122661 17 43104920 427335 A G . . AF_EXAC=0.00001;ALLELEID=416535;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104920A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=780485347 17 43104922 266264 CA C . . ALLELEID=262012;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104924del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040039 17 43104925 125634 GT G . . ALLELEID=131172;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104927del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):362&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273899684 17 43104926 215871 T C . . ALLELEID=213336;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43104926T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:207099;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=863224418 17 43104928 54565 G A . . ALLELEID=69232;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43104928G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285670;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357350 17 43104928 266257 GAC AA . . ALLELEID=262013;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104928_43104930delinsAA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040032 17 43104931 266255 TA T . . ALLELEID=262014;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104934del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886040030 17 43104936 54537 CT C . . ALLELEID=69204;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43104937del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):351&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357884 17 43104938 54533 C A . . ALLELEID=69200;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104938C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):350&base_change%3DG_to_T;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356847 17 43104938 141303 C G . . ALLELEID=151017;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104938C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356847 17 43104938 142611 C T . . ALLELEID=152325;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43104938C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=80356847 17 43104939 54530 G AACAAGTTGAC . . ALLELEID=69197;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43104939delinsAACAAGTTGAC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397508957 17 43104941 54514 ACTTT A . . ALLELEID=69181;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104945_43104948del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:7887409|Breast_Cancer_Information_Core__(BRCA1):343&base_change%3Ddel_AAAG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357697 17 43104947 231529 T C . . ALLELEID=236176;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104947T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=730881465 17 43104949 54499 G A . . ALLELEID=69166;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Ovarian_cancer|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43104949G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285562;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357234 17 43104950 231377 T C . . ALLELEID=236177;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43104950T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=876659123 17 43104952 183982 G A . . ALLELEID=185122;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43104952G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=786201203 17 43104968 37450 T C . . ALLELEID=46006;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43104968T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):332-12&base_change%3DA_to_G|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285496;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358163 17 43105117 125614 T C . . AF_TGP=0.54852;ALLELEID=131152;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43105117T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):332-161&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799912 17 43105222 209488 T C . . AF_TGP=0.01797;ALLELEID=206447;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43105222T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176134 17 43105441 209489 A C . . AF_TGP=0.33586;ALLELEID=206448;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43105441A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176133 17 43105799 209490 T C . . AF_TGP=0.01797;ALLELEID=206449;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43105799T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176132 17 43106026 209491 C T . . AF_TGP=0.35304;ALLELEID=206450;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106026C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176130 17 43106131 209492 A G . . AF_TGP=0.04273;ALLELEID=206451;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106131A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55974475 17 43106433 188404 A T . . AF_ESP=0.01063;AF_EXAC=0.00349;AF_TGP=0.01058;ALLELEID=186551;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43106433A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:26681;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176128 17 43106453 54467 T C . . ALLELEID=69134;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43106453T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285448|Breast_Cancer_Information_Core__(BRCA1):331+3&base_change%3DA_to_G|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00134;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358083 17 43106455 54465 C A . . ALLELEID=69132;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43106455C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285442|Breast_Cancer_Information_Core__(BRCA1):331+1&base_change%3DG_to_T;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=3;RS=80358042 17 43106455 37446 C T . . ALLELEID=46002;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43106455C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285430|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2499166|Breast_Cancer_Information_Core__(BRCA1):331+1&base_change%3DG_to_A;GENEINFO=BRCA1:672;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=80358042 17 43106456 54463 C CT . . ALLELEID=69130;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43106460dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508938 17 43106456 254371 CT C . . ALLELEID=249172;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106460del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942607;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508938 17 43106456 266198 CTTTTGGTTATATCATTCTTACA C . . ALLELEID=262015;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106458_43106479del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886039978 17 43106457 17693 T C . . ALLELEID=32732;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43106457T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776756|OMIM_Allelic_Variant:113705.0034|Genologica_Medica:GNL0004|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285418|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:148446|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2472187|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721884;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant;ORIGIN=3;RS=80357382 17 43106462 254370 G GT . . ALLELEID=249173;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106464dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):322&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=273898673 17 43106463 91573 TTA T . . ALLELEID=97050;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43106465AT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4942609;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122651 17 43106465 266210 A AT . . ALLELEID=262016;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106466dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886039990 17 43106467 427246 A G . . ALLELEID=416536;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106467A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=80357033 17 43106469 54431 C A . . AF_ESP=0.00015;AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=69098;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43106469C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:465547|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1830119|Illumina_Laboratory_Services,Illumina:1350153|UniProtKB_(protein):P38398#VAR_070460|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00052|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:177452|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721763;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80357102 17 43106470 240778 A G . . ALLELEID=242817;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43106470A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=878854936 17 43106472 54414 TC T . . ALLELEID=69081;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43106473del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):314&base_change%3Ddel_G|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_158;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80357869 17 43106474 54395 TTACA T . . ALLELEID=69062;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43106477_43106480del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=397508917 17 43106476 141286 A T . . ALLELEID=151000;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43106476A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense;ORIGIN=1;RS=587781632 17 43106477 548178 C CTTTATATCATCCTTACATT . . ALLELEID=538914;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106477_43106478insTTTATATCATCCTTACATT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555597215 17 43106477 54400 C T . . ALLELEID=69067;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43106477C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_007759|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2830624|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776661|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285268;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant;ORIGIN=9;RS=55851803 17 43106478 54390 A AT . . ALLELEID=69057;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106479dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):308&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273897665 17 43106479 548171 TAA T . . ALLELEID=538915;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106481_43106482del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555597235 17 43106480 54381 A T . . AF_EXAC=0.00001;ALLELEID=69048;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast_neoplasm|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43106480A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285232;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357086 17 43106484 548199 G GGCGC . . ALLELEID=538916;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106484_43106485insGCGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555597239 17 43106484 54365 GAC G . . ALLELEID=69032;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43106485AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397508912 17 43106485 266191 A AGCGC . . ALLELEID=262017;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106485_43106486insGCGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886039971 17 43106487 17661 A C . . AF_EXAC=0.00007;ALLELEID=32700;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_carcinoma|Breast_neoplasm|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43106487A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776902|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2386455|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00099|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18335_605|UniProtKB_(protein):P38398#VAR_007757|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:16611|OMIM_Allelic_Variant:113705.0002|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:721612|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285202;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=3;RS=28897672 17 43106488 266189 C CT . . ALLELEID=262018;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106489dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=886039969 17 43106488 54353 CT C . . ALLELEID=69020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43106489del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):298&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357591 17 43106488 54350 CTG C . . ALLELEID=69017;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43106489TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:2044505;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397508907 17 43106490 54349 G A . . ALLELEID=69016;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43106490G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:285184;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357471 17 43106492 266186 G T . . ALLELEID=262019;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106492G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=199522616 17 43106496 266182 G GC . . ALLELEID=262020;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106499dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357660 17 43106496 125589 GC G . . ALLELEID=131127;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43106499del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):290&base_change%3Ddel_G|Invitae:6419570;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357660 17 43106501 254369 T TTC . . ALLELEID=249174;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106503_43106504dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):285&base_change%3Dins_GA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357550 17 43106507 54308 TG T . . ALLELEID=68975;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43106509del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=397508890 17 43106508 54307 G A . . ALLELEID=68974;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43106508G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80356864 17 43106515 427270 A C . . ALLELEID=416537;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106515A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=1131692081 17 43106517 54276 GT G . . ALLELEID=68943;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106520del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4942628|Breast_Cancer_Information_Core__(BRCA1):269&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=273897662 17 43106523 54256 GC G . . ALLELEID=68923;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106524del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):263&base_change%3Ddel_G;GENEINFO=BRCA1:672;MC=SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357682 17 43106524 37412 CA C . . ALLELEID=45968;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43106525del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):262&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=80357637 17 43106526 548198 T TA . . ALLELEID=538917;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106526_43106527insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=1555597309 17 43106527 427311 G A . . AF_EXAC=0.00001;ALLELEID=416538;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106527G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=398122635 17 43106527 266165 G GA . . ALLELEID=262021;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106527_43106528insA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886039950 17 43106527 91553 G T . . ALLELEID=97030;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106527G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=398122635 17 43106528 125570 C CA . . ALLELEID=131108;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43106532dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):258&base_change%3Dins_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357734 17 43106528 54246 C T . . ALLELEID=68913;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43106528C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357150 17 43106534 37404 C A . . AF_EXAC=0.00001;ALLELEID=45960;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43106534C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284896|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2533078|Breast_Cancer_Information_Core__(BRCA1):254-1&base_change%3DG_to_T;GENEINFO=BRCA1:672;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=80358158 17 43106865 264831 G A . . AF_TGP=0.00140;ALLELEID=259595;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106865G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186268206 17 43106929 209493 T C . . AF_TGP=0.12680;ALLELEID=206452;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43106929T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799913 17 43107032 209494 C T . . AF_TGP=0.35304;ALLELEID=206453;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43107032C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176126 17 43107096 264811 G A . . AF_TGP=0.00359;ALLELEID=259596;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43107096G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=575589035 17 43107299 209495 G A . . AF_TGP=0.01378;ALLELEID=206454;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43107299G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12946839 17 43107458 209496 A G . . AF_TGP=0.00300;ALLELEID=206455;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43107458A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148341992 17 43107539 209497 C T . . AF_TGP=0.00200;ALLELEID=206456;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43107539C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176124 17 43107764 209498 C T . . AF_TGP=0.03734;ALLELEID=206457;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43107764C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799914 17 43108335 264791 C CA . . ALLELEID=259597;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43108349dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34608699 17 43108791 209499 A G . . AF_TGP=0.35304;ALLELEID=206458;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43108791A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=4792977 17 43108968 209500 G C . . AF_TGP=0.00958;ALLELEID=206459;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43108968G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142808159 17 43108991 209501 C T . . AF_TGP=0.00319;ALLELEID=206460;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43108991C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146059433 17 43109041 264813 T TCTATCTATCTACCTAC . . ALLELEID=259598;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43109052_43109067dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146934045 17 43109088 209502 G C . . AF_TGP=0.01358;ALLELEID=206461;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43109088G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176121 17 43109216 209503 C T . . AF_TGP=0.35344;ALLELEID=206462;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43109216C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176120 17 43109546 209504 A T . . AF_TGP=0.04173;ALLELEID=206463;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43109546A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8065872 17 43109923 264804 C T . . AF_TGP=0.00839;ALLELEID=259599;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43109923C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=187354131 17 43110084 209505 C T . . AF_TGP=0.01258;ALLELEID=206464;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43110084C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142024941 17 43110085 209506 G A . . AF_TGP=0.01058;ALLELEID=206465;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43110085G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176119 17 43110174 209507 G A . . AF_TGP=0.00559;ALLELEID=206466;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43110174G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111572667 17 43110292 209508 T C . . AF_TGP=0.00559;ALLELEID=206467;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43110292T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113127132 17 43110340 209509 A G . . AF_TGP=0.00699;ALLELEID=206468;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43110340A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111615606 17 43110532 209510 G A . . AF_EXAC=0.01696;AF_TGP=0.01138;ALLELEID=206469;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43110532G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=75129942 17 43110694 209511 G C . . AF_TGP=0.01797;ALLELEID=206470;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43110694G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=73321427 17 43111027 209512 A G . . AF_TGP=0.35224;ALLELEID=206471;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43111027A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12936316 17 43111066 209513 A G . . AF_TGP=0.00719;ALLELEID=206472;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43111066A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147766773 17 43111413 209514 G A . . AF_TGP=0.00399;ALLELEID=206473;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43111413G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176118 17 43111432 209515 T A . . ALLELEID=206474;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43111432T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=188719262 17 43111549 209516 T C . . AF_TGP=0.35703;ALLELEID=206475;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43111549T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176117 17 43111593 209517 G A . . AF_TGP=0.00200;ALLELEID=206476;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43111593G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143757906 17 43111828 209518 A C . . AF_TGP=0.00719;ALLELEID=206477;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43111828A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176116 17 43112129 209519 G A . . AF_TGP=0.33447;ALLELEID=206478;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112129G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11657823 17 43112322 209520 G A . . AF_TGP=0.00379;ALLELEID=206479;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112322G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=187294938 17 43112347 209521 A G . . AF_TGP=0.33447;ALLELEID=206480;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112347A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176114 17 43112722 264785 C T . . AF_TGP=0.49461;ALLELEID=259600;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112722C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55737636 17 43112723 264798 TGA T . . AF_TGP=0.49481;ALLELEID=259601;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112724_43112725del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55820479 17 43112726 264780 CT C . . AF_TGP=0.49481;ALLELEID=259602;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112727del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=374842106 17 43112732 264823 C G . . AF_TGP=0.47025;ALLELEID=259603;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112732C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=377611452 17 43112733 264824 A T . . AF_TGP=0.47025;ALLELEID=259604;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112733A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=371133200 17 43112736 264819 C T . . AF_TGP=0.49720;ALLELEID=259605;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112736C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=375673256 17 43112738 264846 TGAAAC T . . AF_TGP=0.49720;ALLELEID=259606;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43112739_43112743del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=67177158 17 43113054 209522 T C . . AF_TGP=0.00499;ALLELEID=206481;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43113054T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113210086 17 43113156 209523 T G . . AF_TGP=0.00359;ALLELEID=206482;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43113156T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=138040784 17 43113362 264825 ATTTTC A . . ALLELEID=259607;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43113367CTTTT[2];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139811854 17 43113759 209524 A G . . AF_TGP=0.35304;ALLELEID=206483;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43113759A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176109 17 43113790 209525 G C . . AF_TGP=0.01797;ALLELEID=206484;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43113790G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176108 17 43113938 209526 G A . . AF_TGP=0.14716;ALLELEID=206485;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43113938G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2671874 17 43114021 209527 G GC . . ALLELEID=206486;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43114023dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113808892 17 43114074 264800 C CA . . ALLELEID=259608;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43114087dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=541592598 17 43114094 209528 G T . . AF_TGP=0.01078;ALLELEID=206487;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43114094G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176106 17 43114335 209529 G A . . AF_TGP=0.00419;ALLELEID=206488;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43114335G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=79415432 17 43114390 264777 C CT . . ALLELEID=259609;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43114406dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35851659 17 43114980 209530 C T . . AF_TGP=0.01338;ALLELEID=206489;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43114980C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176104 17 43115033 209531 G A . . AF_TGP=0.35423;ALLELEID=206490;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115033G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176103 17 43115163 209532 C T . . AF_TGP=0.00200;ALLELEID=206491;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115163C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176102 17 43115430 209533 G A . . AF_TGP=0.00140;ALLELEID=206492;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115430G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=139405471 17 43115501 264828 CA C . . ALLELEID=259610;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43115516del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35149296 17 43115524 209534 T A . . AF_TGP=0.00559;ALLELEID=206493;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43115524T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176101 17 43115615 209535 G A . . AF_TGP=0.00379;ALLELEID=206494;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43115615G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176100 17 43115725 54208 CTT C . . ALLELEID=68875;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43115726_43115727del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508857 17 43115725 224416 CTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA C . . ALLELEID=226212;CLNDISDB=Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast_neoplasm|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115726_43115779del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555599208 17 43115727 183950 T G . . AF_EXAC=0.00001;ALLELEID=185127;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43115727T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00116|UniProtKB_(protein):P38398#VAR_070459;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=769650474 17 43115729 54200 C A . . ALLELEID=68867;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43115729C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2471969|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284866;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357446 17 43115729 96898 C CA . . ALLELEID=102801;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115733dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357951 17 43115729 54199 C T . . ALLELEID=68866;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43115729C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00114|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2851861;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357446 17 43115729 54194 CA C . . ALLELEID=68861;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43115733del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:5084032|Breast_Cancer_Information_Core__(BRCA1):249&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357951 17 43115730 54191 A T . . ALLELEID=68858;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43115730A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00115;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357327 17 43115735 54173 AT A . . ALLELEID=68840;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43115736del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4546120|Breast_Cancer_Information_Core__(BRCA1):243&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357943 17 43115737 185485 G A . . ALLELEID=185128;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43115737G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=786202211 17 43115737 54167 GT G . . ALLELEID=68834;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43115738del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397508847 17 43115738 54166 T C . . ALLELEID=68833;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43115738T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00130;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357276 17 43115738 548235 TG T . . ALLELEID=538918;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115740del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1555599226 17 43115741 54157 TCA T . . ALLELEID=68824;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43115743AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Breast_Cancer_Information_Core__(BRCA1):236&base_change%3Ddel_TG|Invitae:1422561;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357972 17 43115745 54152 A G . . ALLELEID=68819;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43115745A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2850975|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00113|Genologica_Medica:GNL0003|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:284770;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357164 17 43115746 54146 C T . . AF_EXAC=0.00414;AF_TGP=0.01258;ALLELEID=68813;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43115746C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1776325|Illumina_Laboratory_Services,Illumina:154290|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:19299|Breast_Cancer_Information_Core__(BRCA1):233&base_change%3DG_to_A|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:458801;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1800062 17 43115746 54141 CTT C . . ALLELEID=68808;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43115748_43115749del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2846795|Breast_Cancer_Information_Core__(BRCA1):231&base_change%3Ddel_AA;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357949 17 43115750 54131 G T . . ALLELEID=68798;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S;CLNHGVS=NC_000017.11:g.43115750G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00112;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80356880 17 43115754 266129 AGACAG A . . ALLELEID=262022;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115756_43115760del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039920 17 43115754 266600 AGACAGGTT A . . ALLELEID=262023;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115755_43115762del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040338 17 43115757 266132 CA C . . ALLELEID=262024;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115758del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886039922 17 43115758 54103 AG A . . ALLELEID=68770;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115760del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):220&base_change%3Ddel_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357750 17 43115766 266593 TG T . . ALLELEID=262025;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43115767del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=886040332 17 43115771 55745 A T . . ALLELEID=70412;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43115771A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=397509331 17 43115775 37707 C A . . ALLELEID=46263;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43115775C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357443 17 43115775 55733 CCA C . . ALLELEID=70400;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43115776_43115777del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):202&base_change%3Ddel_TG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant;ORIGIN=1;RS=80357728 17 43115788 55719 G C . . ALLELEID=70386;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43115788G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):200-9&base_change%3DC_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358127 17 43115789 37699 TA T . . AF_EXAC=0.00005;ALLELEID=46255;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Breast-ovarian_cancer,_familial_2|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43115790del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00132|Breast_Cancer_Information_Core__(BRCA1):200-11&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=273902788 17 43115792 37701 G C . . AF_ESP=0.00062;AF_TGP=0.00100;ALLELEID=46257;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43115792G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:817860|Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00133|Breast_Cancer_Information_Core__(BRCA1):200-13&base_change%3DC_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56328013 17 43115793 37702 G A . . AF_ESP=0.00069;ALLELEID=46258;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|not_provided;CLNHGVS=NC_000017.11:g.43115793G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):200-14&base_change%3DC_to_T|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:724041|Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459362;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358006 17 43115844 125526 C G . . ALLELEID=131064;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43115844C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):200-65&base_change%3DG_to_C;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80358117 17 43115968 209536 T A . . AF_TGP=0.00499;ALLELEID=206495;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43115968T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113046417 17 43116189 209537 A C . . AF_TGP=0.35304;ALLELEID=206496;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43116189A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176098 17 43116191 264808 C CT . . ALLELEID=259612;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43116199dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176097 17 43116191 264838 C CTT . . ALLELEID=259611;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43116198_43116199dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176097 17 43116287 264841 T G . . AF_TGP=0.00599;ALLELEID=259613;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43116287T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=562162183 17 43116451 209538 G C . . AF_TGP=0.01597;ALLELEID=206497;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43116451G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114323360 17 43116581 209539 C T . . AF_TGP=0.01817;ALLELEID=206498;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43116581C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8074462 17 43116729 209540 G A . . AF_TGP=0.01558;ALLELEID=206499;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43116729G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176095 17 43116981 209541 A T . . AF_TGP=0.00300;ALLELEID=206500;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43116981A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148120486 17 43117163 209542 C T . . AF_TGP=0.00958;ALLELEID=206501;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43117163C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117381683 17 43117298 209543 C T . . AF_TGP=0.00040;ALLELEID=206502;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43117298C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=138795459 17 43117726 264839 T C . . AF_TGP=0.00280;ALLELEID=259614;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43117726T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=190387252 17 43118065 209544 T C . . AF_TGP=0.00020;ALLELEID=206503;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118065T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147420429 17 43118212 209545 T G . . AF_TGP=0.35304;ALLELEID=206504;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118212T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176092 17 43118218 209546 G A . . AF_TGP=0.02416;ALLELEID=206505;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118218G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149469770 17 43118260 209547 C T . . AF_TGP=0.33546;ALLELEID=206506;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118260C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176091 17 43118338 209548 T C . . AF_TGP=0.01597;ALLELEID=206507;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118338T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=9895855 17 43118401 209549 G C . . AF_TGP=0.04673;ALLELEID=206508;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118401G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176090 17 43118425 209550 G A . . AF_TGP=0.01378;ALLELEID=206509;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118425G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176089 17 43118446 209551 G A . . AF_TGP=0.35264;ALLELEID=206510;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118446G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176088 17 43118649 209552 C A . . AF_TGP=0.33506;ALLELEID=206511;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118649C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176087 17 43118761 264797 C CT . . ALLELEID=259615;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43118776dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35150209 17 43119034 209553 G A . . AF_TGP=0.01797;ALLELEID=206512;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43119034G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=73321445 17 43119205 209554 C T . . AF_TGP=0.00280;ALLELEID=206513;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43119205C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143912779 17 43119949 264781 A G . . AF_TGP=0.00319;ALLELEID=259616;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43119949A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|LOC110485084:110485084|LOC111589216:111589216;MC=SO:0001627|intron_variant;ORIGIN=1;RS=532039683 17 43120293 209555 G C . . AF_TGP=0.00419;ALLELEID=206514;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43120293G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|LOC110485084:110485084;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116806238 17 43120810 209556 T C . . AF_TGP=0.00300;ALLELEID=206515;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43120810T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=192816557 17 43120979 209557 G A . . AF_TGP=0.00379;ALLELEID=206516;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43120979G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=146467457 17 43121006 209558 G A . . AF_TGP=0.01558;ALLELEID=206517;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43121006G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=112674337 17 43121078 209559 G A . . AF_TGP=0.35304;ALLELEID=206518;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43121078G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=35668327 17 43121231 209560 C T . . AF_TGP=0.04253;ALLELEID=206519;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43121231C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142831199 17 43121331 209561 T C . . AF_TGP=0.54453;ALLELEID=206520;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43121331T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799902 17 43121362 209562 G C . . AF_TGP=0.33526;ALLELEID=206521;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43121362G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=34942571 17 43121405 209563 C T . . AF_TGP=0.00379;ALLELEID=206522;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43121405C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148068102 17 43121520 209564 A C . . AF_TGP=0.35304;ALLELEID=206523;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43121520A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=36086436 17 43122547 264835 T A . . AF_TGP=0.00559;ALLELEID=259617;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43122547T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=541281969 17 43122761 209565 G A . . AF_TGP=0.35363;ALLELEID=206524;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43122761G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176086 17 43122772 209566 C T . . AF_TGP=0.00978;ALLELEID=206525;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43122772C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176085 17 43122888 209567 AG A . . AF_TGP=0.28974;ALLELEID=206527;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43122889del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199839105 17 43122889 209568 G A . . AF_TGP=0.54273;ALLELEID=206526;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43122889G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799903 17 43123064 209569 G GA . . ALLELEID=206528;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43123073dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=149141411 17 43123134 209570 G C . . AF_TGP=0.33506;ALLELEID=206529;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43123134G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176083 17 43123628 209571 A G . . AF_TGP=0.35363;ALLELEID=206530;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43123628A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176082 17 43123638 209572 G A . . AF_TGP=0.00539;ALLELEID=206531;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43123638G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113117695 17 43123815 209573 G A . . AF_TGP=0.00539;ALLELEID=206532;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43123815G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176079 17 43124021 254368 TGG T . . ALLELEID=249175;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124023_43124024del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):192&base_change%3Ddel_CC;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357633 17 43124022 55691 G A . . AF_EXAC=0.00003;ALLELEID=70358;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43124022G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:459344|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723887|Breast_Cancer_Information_Core__(BRCA1):194&base_change%3DC_to_T|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1778829|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:23351;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80356839 17 43124023 55675 G GGACA . . ALLELEID=70342;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124024_43124027dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4942652;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397509310 17 43124023 55680 GGA G . . ALLELEID=70347;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43124024_43124025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397509311 17 43124024 548230 G GAGAC . . ALLELEID=538919;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124025_43124026insGACA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555600872 17 43124024 266572 GAC G . . ALLELEID=262026;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124025AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886040312 17 43124025 548320 A AT . . ALLELEID=538920;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124025_43124026insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555600873 17 43124026 125512 C CGACA . . ALLELEID=131050;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124026_43124027insGACA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):189&base_change%3Dins_TGTC|Genologica_Medica:GNL0002;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=80357536 17 43124026 125511 C CT . . ALLELEID=131049;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124026_43124027insT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):189&base_change%3Dins_A;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357536 17 43124027 266569 A AC . . ALLELEID=262027;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124028dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555600893 17 43124027 55667 A ACT . . AF_EXAC=0.00024;ALLELEID=70334;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43124028CT[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:1122557|Breast_Cancer_Information_Core__(BRCA1):188&base_change%3Dins_AG;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357914 17 43124027 17662 ACT A . . ALLELEID=32701;CLNDISDB=.|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Breast_and_ovarian_cancer|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43124028CT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:9289|Illumina_Laboratory_Services,Illumina:678897|OMIM_Allelic_Variant:113705.0003|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:1981909|Department_of_Pathology_and_Molecular_Medicine,Queen's_University:723501|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:68587|Breast_Cancer_Information_Core__(BRCA1):185&base_change%3Ddel_AG|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_17864_605;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=5;RS=80357914 17 43124028 55668 C CT . . ALLELEID=70335;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124029dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397509309 17 43124028 381467 C T . . AF_EXAC=0.00001;ALLELEID=375112;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43124028C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=766004110 17 43124028 266568 CT C . . ALLELEID=262028;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124029del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886040309 17 43124029 548217 T TG . . ALLELEID=538921;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124029_43124030insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555600897 17 43124030 37691 C CT . . ALLELEID=46247;CLNDISDB=Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155,SNOMED_CT:126926005|Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN517202;CLNDN=Breast_carcinoma|Breast_neoplasm|Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_provided;CLNHGVS=NC_000017.11:g.43124031dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):185&base_change%3Dins_A|Invitae:215223|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:287866;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357783 17 43124031 236275 T TAA . . ALLELEID=237839;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124032_43124033dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Breast_Cancer_Information_Core__(BRCA1):184&base_change%3Dins_TT|Invitae:7918511;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357642 17 43124031 254367 TA T . . ALLELEID=249176;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124033del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):183&base_change%3Ddel_T;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357642 17 43124031 55653 TAA T . . ALLELEID=70320;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43124032_43124033del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397509304 17 43124031 266566 TAAGA T . . ALLELEID=262029;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124032_43124035del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886040307 17 43124032 55656 A G . . ALLELEID=70323;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43124032A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Database_of_BRCA1_and_BRCA2_sequence_variants_that_have_been_clinically_reclassified_by_a_quantitative_integrated_evaluation:BRCA1_00111|UniProtKB_(protein):P38398#VAR_007756;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357438 17 43124032 252428 A T . . ALLELEID=246854;CLNDISDB=MONDO:MONDO:0008170,MedGen:C1140680,Orphanet:ORPHA213500|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Ovarian_cancer|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124032A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357438 17 43124034 55651 G GA . . ALLELEID=70318;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43124035dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397509303 17 43124035 55649 AT A . . ALLELEID=70316;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124039del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):180&base_change%3Ddel_A;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=273902778 17 43124042 55638 G A . . ALLELEID=70305;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN221562;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer;CLNHGVS=NC_000017.11:g.43124042G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397509299 17 43124044 37664 A G . . ALLELEID=46220;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43124044A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P38398#VAR_063899;GENEINFO=BRCA1:672;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80356929 17 43124045 254366 TA T . . ALLELEID=249177;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124046del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886037967 17 43124046 266236 AGCATTAATGACATTTTGTACTTCTTCAAC A . . ALLELEID=262030;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124049_43124077del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886040013 17 43124049 125491 ATTAATGACATTTTGTACTTCTTCAACGCG A . . ALLELEID=131029;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43124050_43124078del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):138&base_change%3Ddel_29;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80359871 17 43124051 182100 TA T . . ALLELEID=180896;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43124053del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:8304161;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=730881457 17 43124055 156194 G A . . ALLELEID=165993;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43124055G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2833896;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80356827 17 43124055 37583 G T . . ALLELEID=46139;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124055G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80356827 17 43124055 266428 GAC G . . ALLELEID=262031;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124057_43124058del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886040186 17 43124056 266443 AC A . . ALLELEID=262032;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124057del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886040201 17 43124056 55010 ACATT A . . ALLELEID=69677;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43124057_43124060del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Breast_Cancer_Information_Core__(BRCA1):156&base_change%3Ddel_AATG|Invitae:2702806|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2852643;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357530 17 43124057 266390 CATTT C . . ALLELEID=262033;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124058_43124061del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886040149 17 43124061 230602 T C . . AF_EXAC=0.00003;ALLELEID=236184;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_specified;CLNHGVS=NC_000017.11:g.43124061T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cancer_Genetics_and_Genomics_Laboratory,British_Columbia_Cancer_Agency:465498;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=763230080 17 43124062 548210 T TG . . ALLELEID=538922;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124063dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555601009 17 43124063 54902 G A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=69569;CLNDISDB=Human_Phenotype_Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000,SNOMED_CT:123843001|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Neoplasm_of_ovary|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43124063G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2765130|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1053|Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286408;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357134 17 43124064 54829 T TG . . ALLELEID=69496;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124064_43124065insG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Breast_Cancer_Information_Core__(BRCA1):151&base_change%3Dins_C;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=3;RS=80357811 17 43124076 136537 G A . . AF_ESP=0.00169;AF_EXAC=0.00052;AF_TGP=0.00160;ALLELEID=140240;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MedGen:CN169374|MedGen:CN221562|MedGen:CN235283|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|not_specified|Breast_and/or_ovarian_cancer|none_provided|not_provided;CLNHGVS=NC_000017.11:g.43124076G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:847709|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1777009|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:83962;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=149402012 17 43124076 548163 G GC . . ALLELEID=538923;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124077dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=BRCA1:672;MC=SO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1555601027 17 43124089 55746 A C . . ALLELEID=70413;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNHGVS=NC_000017.11:g.43124089A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=397509332 17 43124091 415555 A G . . AF_EXAC=0.00002;ALLELEID=402155;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome;CLNHGVS=NC_000017.11:g.43124091A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=754763517 17 43124094 55072 C A . . ALLELEID=69739;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0013685,MedGen:C3280442,OMIM:614320|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|Pancreatic_cancer_4|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia,_complementation_group_S|not_provided;CLNHGVS=NC_000017.11:g.43124094C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Research_Molecular_Genetics_Laboratory,Women's_College_Hospital,_University_of_Toronto:286744;GENEINFO=BRCA1:672;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=80357475 17 43124118 125471 T C . . AF_EXAC=0.00013;AF_TGP=0.00020;ALLELEID=131009;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0007254,MedGen:C0006142,SNOMED_CT:254837009|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Malignant_tumor_of_breast|Breast-ovarian_cancer,_familial_1|not_specified;CLNHGVS=NC_000017.11:g.43124118T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:658430|Breast_Cancer_Information_Core__(BRCA1):101-3&base_change%3DA_to_G;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=273898669 17 43124195 264773 ATAAAG A . . ALLELEID=259618;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124200_43124204del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=56209245 17 43124230 125468 A G . . AF_TGP=0.35363;ALLELEID=131006;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43124230A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Breast_Cancer_Information_Core__(BRCA1):101-115&base_change%3DT_to_C;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3765640 17 43124331 209574 T C . . AF_TGP=0.35363;ALLELEID=206533;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43124331T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176077 17 43124476 209575 G A . . AF_TGP=0.00240;ALLELEID=206534;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124476G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672;MC=SO:0001627|intron_variant;ORIGIN=1;RS=141625477 17 43124741 209576 C T . . AF_TGP=0.00499;ALLELEID=206535;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124741C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|LOC111589215:111589215;MC=SO:0001627|intron_variant;ORIGIN=1;RS=111462026 17 43124747 264850 TTTTTG T . . ALLELEID=259619;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43124748TTTTG[5];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=BRCA1:672|LOC111589215:111589215;MC=SO:0001627|intron_variant;ORIGIN=1;RS=572878542 17 43124935 209577 G A . . AF_TGP=0.01558;ALLELEID=206536;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43124935G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|LOC111589215:111589215;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8176076 17 43125086 209578 A C . . AF_TGP=0.00559;ALLELEID=206537;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MONDO:MONDO:0015356,MedGen:C0027672,Orphanet:ORPHA140162,SNOMED_CT:699346009|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|Hereditary_cancer-predisposing_syndrome|not_provided;CLNHGVS=NC_000017.11:g.43125086A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|LOC111589215:111589215;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55680227 17 43125170 189123 G C . . AF_EXAC=0.48053;AF_TGP=0.54513;ALLELEID=186980;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43125170G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|LOC111589215:111589215;MC=SO:0001627|intron_variant;ORIGIN=1;RS=799905 17 43125443 209579 A G . . AF_TGP=0.00519;ALLELEID=206538;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1|not_specified|not_provided;CLNHGVS=NC_000017.11:g.43125443A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:618544;GENEINFO=BRCA1:672|LOC111589215:111589215;ORIGIN=1;RS=113323025 17 43125524 209580 C T . . AF_TGP=0.00499;ALLELEID=206539;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370|MedGen:CN517202;CLNDN=Breast-ovarian_cancer,_familial_1|not_provided;CLNHGVS=NC_000017.11:g.43125524C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|LOC111589215:111589215;ORIGIN=1;RS=112960339 17 43125979 209581 T C . . AF_TGP=0.02177;ALLELEID=206540;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43125979T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230|LOC111589215:111589215;ORIGIN=1;RS=3092986 17 43126099 209582 T C . . AF_TGP=0.50319;ALLELEID=206541;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43126099T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230|LOC111589215:111589215;ORIGIN=1;RS=799906 17 43126360 209583 G A . . AF_TGP=0.35403;ALLELEID=206542;CLNDISDB=MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,OMIM:PS604370,Orphanet:ORPHA145|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43126360G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230|LOC111589215:111589215;ORIGIN=1;RS=11655505 17 43126708 209584 C G . . AF_TGP=0.14916;ALLELEID=206543;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43126708C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230|LOC111589215:111589215;ORIGIN=1;RS=799907 17 43126716 209585 C T . . AF_TGP=0.01617;ALLELEID=206544;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43126716C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230|LOC111589215:111589215;ORIGIN=1;RS=36221744 17 43126870 209586 C T . . AF_TGP=0.01318;ALLELEID=206545;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43126870C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230|LOC111589215:111589215;ORIGIN=1;RS=144412026 17 43126899 209587 A G . . AF_TGP=0.50319;ALLELEID=206546;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43126899A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230|LOC111589215:111589215;ORIGIN=1;RS=799908 17 43127210 209588 G A . . AF_TGP=0.00779;ALLELEID=206547;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127210G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=799909 17 43127281 209589 A G . . AF_TGP=0.35423;ALLELEID=206548;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127281A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=4793204 17 43127512 209590 A G . . AF_TGP=0.00519;ALLELEID=206549;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127512A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=183796323 17 43127517 209591 C T . . AF_TGP=0.00998;ALLELEID=206550;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127517C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=8077035 17 43127544 209592 G C . . AF_TGP=0.54932;ALLELEID=206551;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127544G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=799910 17 43127753 209593 A G . . AF_TGP=0.35783;ALLELEID=206552;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127753A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=34410138 17 43127820 209594 C A . . AF_TGP=0.33586;ALLELEID=206553;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127820C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=35981166 17 43127865 209595 A G . . AF_TGP=0.35363;ALLELEID=206554;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127865A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=12947782 17 43127866 209596 GAC G . . ALLELEID=206555;CLNDISDB=MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370;CLNDN=Breast-ovarian_cancer,_familial_1;CLNHGVS=NC_000017.11:g.43127868_43127869del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=BRCA1:672|NBR2:10230;ORIGIN=1;RS=112881775 17 44372364 952996 T TCACTC . . ALLELEID=959435;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44372366_44372370dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:98612d26-4b31-40f1-8b8c-89c0873ab2a5;GENEINFO=ITGA2B:3674;MC=SO:0001578|stop_lost,SO:0001589|frameshift_variant;ORIGIN=1;RS=2048504402 17 44372385 627299 T A . . ALLELEID=615566;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44372385T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7338d3f7-38e1-488b-96ac-85ea02ef23a6;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=757116551 17 44372390 953020 C CCA . . ALLELEID=958144;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44372391_44372392dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9eb9a6cb-8091-4194-acd4-7baacc151f69|Invitae:4943021;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048504826 17 44372407 50232 C T . . ALLELEID=59386;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0008552,MedGen:C1861195,OMIM:187800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Thrombocytopenia|Platelet-type_bleeding_disorder_16|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44372407C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1ffdc596-436a-4da2-853f-c11978b6a47c|OMIM_Allelic_Variant:607759.0017|UniProtKB_(protein):P08514#VAR_030468;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=879255514 17 44372407 996160 CG GC . . ALLELEID=983869;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44372407_44372408delinsGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8cea0ef5-f56f-4085-b6f3-6d539ea6797a;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048505090 17 44372408 50233 G A . . ALLELEID=59387;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0008552,MedGen:C1861195,OMIM:187800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Thrombocytopenia|Platelet-type_bleeding_disorder_16|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44372408G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607759.0018|UniProtKB_(protein):P08514#VAR_069919|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4624a88f-7844-4bac-87af-de25d8e9d74a;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=17;RS=766503255 17 44372422 1330348 A G . . ALLELEID=1321028;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44372422A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44374352 627296 A G . . ALLELEID=615747;CLNDISDB=Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Abnormal_platelet_function|Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44374352A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:87ce3bc8-52e8-4b5a-bc39-f9db1ce33a75;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=74664206 17 44374396 996167 A AC . . ALLELEID=983870;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374399dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:c76d20fd-bc27-4b8e-998d-3ed5365e698b;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1291802895 17 44374421 627292 CA C . . ALLELEID=615568;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374422del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8a713b8e-9594-44d5-96a2-124c9e009890;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1598375578 17 44374434 977130 CCCTCT C . . ALLELEID=965256;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374439_44374443del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:031c5709-cdc6-4b1b-924f-ef0315c61155;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048521407 17 44374438 953039 CT C . . ALLELEID=959436;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374439del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ecef5246-ad0d-4213-a6a4-f11ed5cc0814;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1467071163 17 44374448 953057 GC G . . ALLELEID=959437;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374451del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8f73c6f5-d08e-48a2-904d-132622b09984;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048521625 17 44374449 417951 C T . . AF_ESP=0.00031;AF_EXAC=0.00065;AF_TGP=0.00080;ALLELEID=404831;CLNDISDB=MONDO:MONDO:0008552,MedGen:C1861195,OMIM:187800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Platelet-type_bleeding_disorder_16|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374449C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:151004|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:62988b7a-00c4-433d-a37c-1805b8a52e18;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=17;RS=78165611 17 44374461 1330320 G A . . ALLELEID=1321000;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374461G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44374463 952998 G T . . ALLELEID=959438;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374463G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:6a7fde6e-8154-4494-85af-3ead01f92afe;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048521744 17 44374470 381747 C T . . ALLELEID=378307;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44374470C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7cd349a6-46e9-4a53-84cf-0c3313a6f570;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=78657866 17 44374671 953016 TC T . . ALLELEID=959439;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374672del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8180aaec-e141-4303-8bb8-9ade936d675c;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048523431 17 44374671 1330312 TCG T . . ALLELEID=1320992;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374672_44374673del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 44374673 953019 G A . . AF_EXAC=0.00001;ALLELEID=959440;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374673G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:61cd22cd-dfd2-4583-86bb-088a1cea234f;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=79657230 17 44374686 953045 C CG . . ALLELEID=959441;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374691dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:579dcde6-1990-4355-8416-0bfb744926eb;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=781644489 17 44374686 435530 C T . . AF_ESP=0.00423;AF_EXAC=0.00289;AF_TGP=0.00120;ALLELEID=429974;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN169374;CLNDN=Glanzmann_thrombasthenia|not_specified;CLNHGVS=NC_000017.11:g.44374686C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a2098f23-c14b-4e8a-a5db-be79298db2f6|Illumina_Laboratory_Services,Illumina:464396;GENEINFO=ITGA2B:3674;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=5913 17 44374686 971253 CG A . . ALLELEID=958145;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374686_44374687delinsA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a2813a38-6411-4411-aa2f-842c60a06631;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048523750 17 44374699 1210173 T TAGGGG . . ALLELEID=1200167;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374704_44374708dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e4b07930-d42f-47df-990a-6f83818fe71f;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 44374718 627052 TG T . . ALLELEID=615569;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374719del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ebadcd3f-47eb-4264-b505-2be56efa733b;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1598375779 17 44374732 2902 G A . . ALLELEID=17941;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374732G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607759.0015|UniProtKB_(protein):P08514#VAR_069918|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:3c048343-6894-4a94-af04-658b0450a446;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80002943 17 44374738 952997 A T . . ALLELEID=959442;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374738A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:5835aab9-095b-4ace-b6c6-bbce2cb144c0;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048524687 17 44374749 953021 AT G . . ALLELEID=959443;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44374749_44374750delinsG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:b9bfe153-44ab-4f24-8998-3619dacf3d2a;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048524745 17 44375039 996165 C A . . ALLELEID=983871;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375039C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:0ee33e3f-bcc1-498a-87da-e7f0c797c10b;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77458039 17 44375081 996173 GCACCACAGTA G . . ALLELEID=983872;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375084_44375093del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:bac82a5d-576c-4012-be40-8e6e75a437dc;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=76572092 17 44375130 953022 A G . . ALLELEID=959444;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375130A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:88324dd8-85fe-415f-9f15-109de2aaeafc;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1350341374 17 44375647 953054 G A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=959445;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375647G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:456c3dfe-9912-4d39-a585-52cfa2d95c43;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=200846140 17 44375680 996203 TG T . . ALLELEID=983873;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375685del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:11e774ec-ab03-48c8-b43b-0621c6ff7d97;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048535487 17 44375697 2891 A C . . AF_EXAC=0.43595;AF_TGP=0.40036;ALLELEID=17930;CLNDISDB=.|MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN169374;CLNDN=BAK_PLATELET-SPECIFIC_ANTIGEN|Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia|not_specified;CLNHGVS=NC_000017.11:g.44375697A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9b68cd08-b338-44bf-bae0-7e8866b9a1b2|UniProtKB_(protein):P08514#VAR_003983|OMIM_Allelic_Variant:607759.0004|Illumina_Laboratory_Services,Illumina:19776;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5911 17 44375704 323544 G T . . AF_ESP=0.00664;AF_EXAC=0.00285;AF_TGP=0.00519;ALLELEID=346140;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375704G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:765378|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:13c5f175-a7d2-4a5c-8cea-f796b56c87d4;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149468422 17 44375704 996158 GC G . . ALLELEID=983874;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375709del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ae4b4c18-fa45-461a-870a-27724488bb29;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048535976 17 44375718 1210193 T C . . ALLELEID=1200168;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375718T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:b631b1d7-7591-4c2c-bf24-b2ae259d1b9e;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 17 44375719 2893 G C . . ALLELEID=17932;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375719G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607759.0006|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1081b492-a008-4ae5-93b9-c5a81d6b86e0;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=763330792 17 44375719 996161 G T . . AF_EXAC=0.00000;ALLELEID=983875;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375719G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9cce91bd-091f-4606-9c88-f313736a333c;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=763330792 17 44375864 1210174 C A . . ALLELEID=1200169;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375864C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2899a985-3e6f-4933-a4fe-8b848ab801f4;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44375865 627288 A G . . ALLELEID=615571;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375865A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1ba0c0d8-3f70-45c3-a98d-c8d377955761;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1598376647 17 44375953 996192 ACCATTCAC GACCAGGTGA . . ALLELEID=983876;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375953_44375961delinsGACCAGGTGA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8f486095-b6e2-4384-ae4e-8b5f346a0b7f;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048539289 17 44375966 996181 C T . . ALLELEID=983877;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375966C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:aa7ee6c1-fa11-4a62-a4de-f6031d10f1c7;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1166506747 17 44375974 1210207 AT A . . ALLELEID=1200170;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44375976del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9a974c35-7b57-4f78-a1bc-99fe2e7e55a1;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 44376087 1330319 CAT C . . ALLELEID=1320999;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44376089_44376090del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44376089 977129 T C . . ALLELEID=965257;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44376089T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:f8c8505a-d4b4-4c99-8662-1730f2636de5;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048541187 17 44376112 1330347 C T . . ALLELEID=1321027;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44376112C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44376303 1210179 C G . . ALLELEID=1200171;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44376303C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d4d0010a-3207-48cc-a7fc-4c49b0e4bc0b;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1 17 44376312 626927 G A . . ALLELEID=615573;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44376312G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:5fd5f125-5a87-445b-aa8b-673722c332c4;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=1598377051 17 44376323 225393 T G . . ALLELEID=227425;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44376323T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:c277c257-17ca-43c5-bfb7-913ae9e84528;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74475415 17 44376326 996187 G T . . ALLELEID=983878;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44376326G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:30bc788b-4f37-4185-b7ea-97320a8da32d;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048543938 17 44377008 953038 C A . . ALLELEID=959446;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44377008C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2e5ddb23-a6c4-4f24-aa47-eeeae5b0f6c4;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=2048550327 17 44377040 996211 C A . . ALLELEID=983879;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44377040C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:60a59a71-2533-4a16-8bb9-3074c07e67e5;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=2048550784 17 44377713 1330343 C T . . ALLELEID=1321023;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44377713C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44377726 996189 A G . . ALLELEID=983880;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44377726A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7e3fd2f9-4fdf-4e5f-90ee-eb4dec2d2fef;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048557572 17 44377731 953023 A AC . . ALLELEID=959447;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44377732dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7a03816f-303b-4f16-97b4-1c93db27ee90;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048557642 17 44377736 627273 G GC . . ALLELEID=615574;CLNDISDB=Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Macrothrombocytopenia|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44377737dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:4943083|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:186c1bc8-d67e-4eab-86d6-4c930b1470dc;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1598377980 17 44377758 323547 C T . . AF_ESP=0.00438;AF_EXAC=0.00163;AF_TGP=0.00479;ALLELEID=338689;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44377758C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:718253|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:974b3842-4997-48f5-8619-5a26d4705f51;GENEINFO=ITGA2B:3674;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=114232872 17 44377772 953058 A G . . AF_EXAC=0.00001;ALLELEID=959448;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44377772A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7aedd940-ac73-454f-a226-ca36dee0f6c2;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77961246 17 44378360 458368 A G . . ALLELEID=468281;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378360A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:68d65d3d-65f0-478d-a0b8-8f26afd05413;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1555613692 17 44378393 1210185 G A . . ALLELEID=1200172;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378393G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:08d0d385-0175-4f6f-b39b-c1f635eba146;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44378405 1330350 A C . . ALLELEID=1321030;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378405A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44378427 1210172 C T . . ALLELEID=1200173;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378427C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e3a228d9-41c8-4d47-8882-5e80827c815e;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44378440 1210190 GC G . . ALLELEID=1200174;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378443del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:adc33817-29ae-441b-8f25-0718469e7c8c;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 44378463 1330328 G A . . ALLELEID=1321008;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378463G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44378642 569057 C T . . AF_EXAC=0.00004;ALLELEID=574499;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378642C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a42a7514-27fb-48ef-95e7-ff2157e7ba75;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=746091910 17 44378644 323549 C A . . AF_ESP=0.00447;AF_TGP=0.00439;ALLELEID=328707;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378644C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:777740|UniProtKB_(protein):P08514#VAR_054821|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:de723507-813f-4853-952b-a696b4a3a991;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=7207402 17 44378675 996206 T TA . . ALLELEID=983881;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378676dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:f60ee421-a048-4775-94a7-1ee36dbd9011;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=75028796 17 44378707 953033 G A . . ALLELEID=959449;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378707G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:582fd2c4-5386-45d3-9a32-d57334d08142;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=1236922680 17 44378712 996194 T C . . ALLELEID=983882;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44378712T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a40726b4-c4be-45c5-890e-71ba90ba03b3;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=77229108 17 44379689 2903 C G . . ALLELEID=17942;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44379689C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:57f0837e-2d71-4368-b20e-a9445687d83d|OMIM_Allelic_Variant:607759.0016;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80277041 17 44379719 323550 C T . . AF_ESP=0.00538;AF_EXAC=0.00179;AF_TGP=0.00519;ALLELEID=338692;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44379719C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4b977a47-a3af-452c-bf3f-c9d6a9c2b38b|Illumina_Laboratory_Services,Illumina:718255;GENEINFO=ITGA2B:3674;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=79289329 17 44379746 695458 C T . . AF_ESP=0.00054;AF_EXAC=0.00018;AF_TGP=0.00060;ALLELEID=684677;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44379746C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a1832e59-7895-4a9d-be8f-4998bcb93b7f;GENEINFO=ITGA2B:3674;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139878415 17 44379780 2900 A G . . AF_EXAC=0.00011;ALLELEID=17939;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44379780A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:c6b42f33-92f7-4a71-822b-932469bd66ae|UniProtKB_(protein):P08514#VAR_030460|OMIM_Allelic_Variant:607759.0013;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=76811038;CLNDISDBINCL=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDNINCL=Glanzmann_thrombasthenia;CLNSIGINCL=424783:Pathogenic 17 44379798 1210202 C T . . ALLELEID=1200175;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44379798C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d1bfa84e-8830-48b7-87d3-8c4f3d32ce7e;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44379815 953036 C T . . ALLELEID=959450;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44379815C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1c74ac97-1747-4813-b418-f5e4beeb8a1a;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=2048578129 17 44380000 977128 A G . . AF_EXAC=0.00001;ALLELEID=965258;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44380000A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ad80f3bd-fae3-4336-a4b3-b75e77da763f;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=769156315 17 44380004 2892 G A . . AF_EXAC=0.00002;ALLELEID=17931;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380004G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1a869768-9193-4b8f-af73-e009889cb07c|OMIM_Allelic_Variant:607759.0005;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=137852906 17 44380012 1330354 G T . . ALLELEID=1321034;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380012G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44380082 996196 G A . . ALLELEID=983883;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380082G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:27432f6c-0a8e-4dd5-abdc-e3aeb530dae4;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=74602141 17 44380102 996210 C T . . AF_EXAC=0.00002;ALLELEID=983884;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380102C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:617d6c2a-4951-4e01-87cb-2a6afcc8558b;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=769405222 17 44380103 953046 G A . . ALLELEID=959451;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380103G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:41669d1d-f095-45d7-803f-ab40a77115a5;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1261397461 17 44380127 323553 G A . . AF_ESP=0.00254;AF_TGP=0.00240;ALLELEID=346147;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380127G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:765380|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:db6c9b61-e7dd-4c62-a697-37118c6d4ab7;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143967758 17 44380132 1330318 A T . . ALLELEID=1320998;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380132A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44380134 996198 C G . . ALLELEID=983885;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380134C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:67cc2711-a95d-404b-b515-a86eccf9bdae;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048581681 17 44380135 996199 TG T . . ALLELEID=983886;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380136del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:413eb6b7-65e0-474c-b27b-1870dbdc47ad;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048581747 17 44380136 953031 G A . . ALLELEID=959452;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380136G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:442099ec-deac-46c6-b0f5-08452f6230b1;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=1344768030 17 44380138 996197 A C . . ALLELEID=983887;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380138A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:bc4e5c2d-9da0-4cf6-91bc-3d62f12320ae;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048581782 17 44380142 953055 C A . . ALLELEID=959453;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380142C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9a3e6efe-261b-412b-ab23-fd1ad5dcde27;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=780837520 17 44380145 1210196 CA C . . ALLELEID=1200176;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380146del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:325f41fc-b3cf-41fe-b5fe-0e49dbe7f43a;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 44380301 953017 GC G . . ALLELEID=959454;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380302del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:eb1fa6cd-0576-493c-b32e-9633ca5dfd96;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=2048583710 17 44380385 2895 C T . . ALLELEID=17934;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380385C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9b638038-9f07-4f3a-ab7b-ac3fede71eaf|OMIM_Allelic_Variant:607759.0008;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=879255509 17 44380410 1330325 G C . . ALLELEID=1321005;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380410G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44380469 1210197 G GACCT . . ALLELEID=1200177;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380469_44380470insACCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ba0f5a5c-b3a2-46d9-8f0b-7e7128d864de;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 44380490 953002 TCTGATGGGATAGG T . . ALLELEID=959455;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380491_44380503del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7d8be7e6-2251-4e80-ace3-a09cc4fa5746;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=2048585829 17 44380491 627239 C T . . ALLELEID=615748;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380491C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e80817a4-ff72-43ae-a501-456ea43acbc7;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1598379928 17 44380626 953064 G C . . ALLELEID=959456;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380626G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:09f57705-bbc6-4b9a-9251-3f7edd5614ba;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=78218617 17 44380900 2898 TGTCTAC T . . ALLELEID=17937;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380902_44380907del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:33b730a2-d6e5-4314-8f26-52dface31893|OMIM_Allelic_Variant:607759.0011;GENEINFO=ITGA2B:3674;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=780017389 17 44380911 977127 C T . . ALLELEID=965259;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380911C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7874e234-df85-40e5-a3db-fa1c8adbf22a;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048591163 17 44380915 631773 G A . . ALLELEID=620592;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380915G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:727156|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2f4b90fb-a7d0-4732-998e-1b79b031dbab;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=151179377 17 44380926 691627 C T . . ALLELEID=679346;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44380926C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1d8ef499-3ee3-4757-97d7-620a09c5b1c4|OMIM_Allelic_Variant:607759.0010;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1598380253 17 44381038 381748 C T . . ALLELEID=378308;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44381038C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d5a47ada-b724-415e-a81e-5d8e8e2fa322;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=780786843 17 44381039 1210178 G GT . . ALLELEID=1200179;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44381040dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:6ccbc03c-03c5-41f2-932e-a2bd08117ae3;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44381039 1210205 G T . . ALLELEID=1200178;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44381039G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:78da06e8-37ed-4d06-84bf-0c390ba84d34;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44381043 996212 G C . . ALLELEID=983888;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44381043G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:58d58972-8cd4-4157-a6eb-e72cce24b84e;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773649547 17 44381058 953004 A G . . ALLELEID=959457;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44381058A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:07a984a0-d52d-4aab-b0dc-90af6f65f302;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=75622274 17 44383488 1210188 C T . . ALLELEID=1200180;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383488C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:fd75894f-5e95-4015-beb9-966c42d1c965;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1 17 44383502 996180 C A . . ALLELEID=983889;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383502C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ebdb57c0-062c-474c-9608-27e62452919c;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048613694 17 44383517 627218 C T . . ALLELEID=615577;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383517C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:bcbc61f3-c795-4980-b64a-37af73ad477b;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1214448436 17 44383561 1030779 G A . . ALLELEID=1018299;CLNDISDB=MONDO:MONDO:0008552,MedGen:C1861195,OMIM:187800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Platelet-type_bleeding_disorder_16|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383561G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:04e75931-7e04-49cd-8465-eec168b78e7d;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048614738 17 44383624 953001 TACAC T . . ALLELEID=959458;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383625AC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:bd3b826a-5cd8-4c84-a916-054f34766f89;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048615633 17 44383630 2896 C T . . ALLELEID=17935;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383630C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P08514#VAR_003980|OMIM_Allelic_Variant:607759.0009|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a6fd9573-676f-4b4d-bbd9-49eea0ffdd23;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137852908 17 44383631 426669 G A . . ALLELEID=415564;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44383631G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a6a8bd9d-35db-43df-ab39-5ae71ec0fd4c;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1026539797 17 44383640 2899 C T . . AF_EXAC=0.00002;ALLELEID=17938;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383640C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P08514#VAR_009888|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4fb9bbea-ef5f-4224-a74d-fbf5b546f159|OMIM_Allelic_Variant:607759.0012;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137852910 17 44383652 1210184 G A . . ALLELEID=1200181;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383652G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:54942c81-eb96-4221-9e42-699a17738618;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44383660 417956 C T . . ALLELEID=404832;CLNDISDB=MONDO:MONDO:0008552,MedGen:C1861195,OMIM:187800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Platelet-type_bleeding_disorder_16|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383660C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9c3b434e-c2db-487f-92a2-065aa291e02e;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=9;RS=1060499614 17 44383675 953042 A G . . ALLELEID=959459;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383675A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:027d3ed8-b21f-44dd-bba6-8d161a3cb738;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1476448476 17 44383681 996201 G A . . ALLELEID=983890;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383681G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:602edb97-8fcc-453c-9f94-64b933753620;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048616805 17 44383682 996200 C T . . ALLELEID=983891;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383682C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7fcb7f26-d6b7-44e3-93db-a7eac08f57a6;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048616842 17 44383907 1030781 C A . . ALLELEID=1018300;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383907C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:b2c81f25-21e7-45e9-a5e8-ee5e5513cbf4;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048619428 17 44383930 996169 C A . . ALLELEID=983892;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383930C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:cc73bafa-1187-4229-9a07-413bf2550bd8;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048619898 17 44383931 996170 C A . . ALLELEID=983893;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44383931C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:5738e7ef-8f53-4bd1-960e-21c223060287;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048619921 17 44384112 996157 C CT . . ALLELEID=983894;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384113dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4944e895-ed84-4165-98c9-907bd669255d;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=78321762 17 44384208 1330353 GGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGT TGTGGGATTGCACTGTGGGTGGC . . ALLELEID=1321033;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384208_44388815delinsTGTGGGATTGCACTGTGGGTGGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant,SO:0001575|splice_donor_variant;ORIGIN=1 17 44384298 323561 TG T . . ALLELEID=328714;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384303del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:0e228f03-f000-4155-a74d-8b93303f8ad0|Illumina_Laboratory_Services,Illumina:742299;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=373578804 17 44384313 953005 C G . . ALLELEID=959460;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384313C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:0e2ba47d-6962-4167-a1df-def62f5aa041;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=531610168 17 44384316 953040 C T . . AF_EXAC=0.00001;ALLELEID=959461;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384316C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ac18c051-4663-4011-9cdc-fe7e26715430;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753264426 17 44384344 323562 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=338702;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384344G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:628337|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:45d99be7-193f-4943-8eef-03b0407dd395;GENEINFO=ITGA2B:3674;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376672078 17 44384345 1210210 A T . . ALLELEID=1200182;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384345A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:5289ffc6-3f4b-45c1-b8b2-471eff1a1312;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44384543 1210182 G A . . ALLELEID=1200183;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384543G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:db73dca4-48dc-46f7-aade-c0a32a8c7e2b;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44384567 2894 C T . . ALLELEID=17933;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384567C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P08514#VAR_003979|OMIM_Allelic_Variant:607759.0007|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:315ee6aa-c6dd-4c98-97b1-5c49fedfb665;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137852907 17 44384573 1330344 G C . . ALLELEID=1321024;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384573G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44384585 890601 C G . . ALLELEID=877770;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384585C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:721688|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:42741164-6605-4b6e-87ff-12ed949b1c95;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048627164 17 44384585 953015 C T . . ALLELEID=959462;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384585C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9dbbf079-8500-47e8-9f60-62847fdfe25e;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048627164 17 44384587 1210191 T C . . ALLELEID=1200184;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384587T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a0fc500d-03a9-4876-9cd4-3014ffe85280;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 17 44384946 996191 A G . . ALLELEID=983895;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44384946A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e2f72eab-04d5-4d93-b6fe-533d4a0f41c8;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1194700242 17 44385019 1330329 AG A . . ALLELEID=1321009;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385021del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 44385053 996204 C CA . . ALLELEID=983896;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385055dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2dce6c82-b717-4714-a586-2af41e85c7d6;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048632055 17 44385065 953056 G A . . ALLELEID=959463;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385065G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:957b1645-7c3e-41de-a892-42afe9460734;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=2048632227 17 44385175 1330345 T C . . ALLELEID=1321025;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385175T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44385187 1210176 G A . . ALLELEID=1200185;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385187G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:42979f22-3724-4b1f-8245-4e2216c55d02;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44385193 1210203 A C . . ALLELEID=1200186;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385193A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:f1b331ac-2b12-493d-b88c-85af2b7fcb57;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44385193 2901 A G . . ALLELEID=17940;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385193A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:99e33fc5-37e3-4481-a9c5-52cd04f26ea6|OMIM_Allelic_Variant:607759.0014|UniProtKB_(protein):P08514#VAR_030451;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137852911 17 44385210 1330346 C T . . ALLELEID=1321026;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385210C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 17 44385281 627103 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=615751;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385281C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d2641d07-2174-45b0-96ac-c39bbeed06d4;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=373730428 17 44385284 953013 G T . . ALLELEID=959464;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385284G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:13d2b130-2f9d-48c6-8316-be8a93767b03;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=2048635467 17 44385290 1330317 G A . . ALLELEID=1320997;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385290G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44385309 996156 C T . . ALLELEID=983897;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385309C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7cc1a3c4-475e-4230-a075-72db8b006f19;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048635741 17 44385541 323569 T C . . AF_EXAC=0.00000;ALLELEID=328716;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44385541T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:368b2bf8-0d71-41ee-952f-823fa8403e41|Illumina_Laboratory_Services,Illumina:165436;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=771984157 17 44385546 952999 C G . . ALLELEID=959465;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385546C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7cdc7619-55d1-4774-a768-9e511d2a5764;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1598383011 17 44385550 1330342 C T . . ALLELEID=1321022;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385550C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001575|splice_donor_variant;ORIGIN=1 17 44385554 996171 A C . . ALLELEID=983898;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385554A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:afa93bc0-4563-4d08-aed9-4487bcf11f50;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048639566 17 44385565 627093 AC A . . ALLELEID=615579;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385566del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:dcb4900e-06c2-498f-8022-3b2920ee0a96;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1469711487 17 44385567 1210195 G C . . ALLELEID=1200187;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385567G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:c746978e-82c6-4de7-9a8e-7612dbe9ae33;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44385570 952995 A C . . ALLELEID=959466;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385570A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a378c029-ae10-4b9e-9aad-49a358635fe2;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048639927 17 44385594 996195 A T . . ALLELEID=983899;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385594A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:590bab7e-2dad-47cc-9986-0645b00b30e5;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=79713558 17 44385598 953018 G A . . ALLELEID=959467;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385598G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:5f6c2e98-4031-47f6-883a-5354adebb7c9;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148327798 17 44385598 953014 G T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=959468;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385598G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:69629f95-09fa-4449-82e5-95598024737d;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148327798 17 44385599 953000 G C . . ALLELEID=959469;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.44385599G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:81ad1388-e2c1-4808-a45b-a3a6439d1026;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048640485 17 44385645 953024 G C . . ALLELEID=959470;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385645G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d2d8f997-9c23-4dcc-aa14-7aa5e9b785c6;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1279297832 17 44385662 953044 TCTC T . . AF_EXAC=0.00001;ALLELEID=959471;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385663_44385665del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d96f1014-4193-4a0e-ab30-935705d7b081;GENEINFO=ITGA2B:3674;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=747956782 17 44385690 996207 G T . . ALLELEID=983900;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385690G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:04331e89-ab92-4005-a74c-eed34f0eb370;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1433566887 17 44385693 1330330 C T . . ALLELEID=1321010;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385693C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1 17 44385705 2889 GGGGGCGCAGGCCT G . . ALLELEID=17928;CLNDISDB=MONDO:MONDO:0031332,MedGen:CN300358,OMIM:273800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_1|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385708_44385720del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:607759.0002|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4d6a641c-0498-4bd3-8eb1-854be8a92082;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=879255508 17 44385709 1210192 G A . . ALLELEID=1200188;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385709G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2bebe3f2-ae3a-49e6-97f4-da340eeb4bea;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1 17 44385711 854735 G T . . ALLELEID=845495;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385711G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:eb81f6e4-263e-4297-b459-3141e374cfb5;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=2048642260 17 44385717 627063 C T . . ALLELEID=615753;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385717C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:3cfaab38-a564-4da8-972e-78ec5fe09e86;GENEINFO=ITGA2B:3674;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1393747638 17 44385740 953006 G A . . AF_ESP=0.00215;AF_EXAC=0.00068;AF_TGP=0.00280;ALLELEID=959472;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44385740G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:0fc9b3bc-f0bb-46c5-b0cb-efb59ec1a323;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199738595 17 44386028 953034 AG A . . ALLELEID=959473;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44386032del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:fb6fd154-9c24-4794-bdc2-9fa5875291f7;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048645725 17 44386054 996185 C T . . ALLELEID=983901;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44386054C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a54a6b68-6293-4cc7-a82a-06f6cc2515b7;GENEINFO=ITGA2B:3674;MC=SO:0001587|nonsense;ORIGIN=1;RS=2048646082 17 44386063 953037 A G . . ALLELEID=959474;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44386063A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d20044ce-4787-4553-bd2d-0af11fd1ecb9;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1052533574 17 44386074 1210189 G GC . . ALLELEID=1200189;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44386077dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a4ec695c-811a-44b4-9ba3-4551d911fc96;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 44386078 977125 GTC G . . ALLELEID=965261;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44386079TC[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:cf37ba1d-7bdf-406c-91aa-6a6acdd669a6;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048646560 17 44386113 323572 G A . . AF_ESP=0.00047;AF_EXAC=0.00093;ALLELEID=328721;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44386113G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:471444|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:acbaa7f7-0999-43c8-87cd-19be88e920ea;GENEINFO=ITGA2B:3674;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375882355 17 44386118 953003 C T . . ALLELEID=959475;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44386118C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ee814d81-8536-4e3c-81df-80dca7ced6fb;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048647163 17 44389277 953029 AC A . . AF_EXAC=0.00003;AF_TGP=0.00060;ALLELEID=959476;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44389278del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a927f3c6-810d-458e-a508-45abfd37d662;GENEINFO=ITGA2B:3674;MC=SO:0001627|intron_variant;ORIGIN=1;RS=560275529 17 44389343 953032 C A . . ALLELEID=959477;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44389343C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:fc6be1f4-c590-4d14-b218-61f54d6c1dbc;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2048678209 17 44389382 953035 GC G . . ALLELEID=959478;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44389385del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:b6180e8f-f45f-4279-8681-e3f31d75c9d0;GENEINFO=ITGA2B:3674;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2048678902 17 44389406 996172 G T . . ALLELEID=983902;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44389406G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e239d9bf-d2e2-4e80-8e67-5e8be0c83cd3;GENEINFO=ITGA2B:3674;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201184269 17 44393555 953025 C T . . ALLELEID=959479;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.44393555C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:f4ce3fb5-f58e-47a2-b330-cd59c37b77bb;ORIGIN=1;RS=2048710914 17 47253892 953028 T C . . ALLELEID=959480;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47253892T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:07621490-1d19-4752-8280-1009a61df585;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1022839092 17 47253901 235258 G A . . AF_ESP=0.00697;AF_EXAC=0.00571;AF_TGP=0.01358;ALLELEID=236945;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47253901G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8be7bf22-cde0-4d3e-b643-a4adf46f69a3|Illumina_Laboratory_Services,Illumina:551843;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=115600591 17 47253941 953050 G A . . ALLELEID=959481;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47253941G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:cb0ff0bf-18ef-475c-b0fc-c77bed3eb75d;GENEINFO=ITGB3:3690;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=2064977538 17 47274439 996193 C T . . AF_EXAC=0.00002;ALLELEID=983903;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47274439C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7c5f28ee-e62f-4c7a-b19b-346462b4912f;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1;RS=75427428 17 47274454 953043 T G . . ALLELEID=959482;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47274454T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4c19257d-2ea0-4ff6-9dc1-e00dd5628fd8;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1880497383 17 47274460 953030 C CAGTG . . ALLELEID=959483;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47274461_47274464dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:f6a5ee90-18f2-4c37-8ef2-253611169962;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1;RS=2065055824 17 47274490 1330352 TG T . . ALLELEID=1321032;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47274492del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47283340 1330326 C A . . ALLELEID=1321006;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283340C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001627|intron_variant;ORIGIN=1 17 47283352 996186 A G . . ALLELEID=983904;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283352A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8faa4bfc-7dfe-4b4c-82b4-29c9556d543d;GENEINFO=ITGB3:3690;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=75354240 17 47283363 953062 C G . . ALLELEID=959484;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283363C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ce434843-9a10-4a26-81f6-dff8e7404074;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065090622 17 47283364 13558 T C . . AF_EXAC=0.12354;AF_TGP=0.08886;ALLELEID=28597;CLNDISDB=.|MONDO:MONDO:0012039,MedGen:C1832662,OMIM:608446|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN169374|MedGen:CN517202;CLNDN=PL(A1)/(A2)_ALLOANTIGEN_POLYMORPHISM|Myocardial_infarction,_susceptibility_to|Glanzmann_thrombasthenia|not_specified|not_provided;CLNHGVS=NC_000017.11:g.47283364T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:173470.0006|UniProtKB_(protein):P05106#VAR_003993|Institute_for_Genomic_Medicine_(IGM)_Clinical_Laboratory,Nationwide_Children's_Hospital:NCH_ACC:2294|Illumina_Laboratory_Services,Illumina:20008|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:55e31015-4a08-43d4-8768-dba28433a961;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5918 17 47283368 697901 C T . . AF_ESP=0.00015;AF_EXAC=0.00016;ALLELEID=688784;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47283368C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:551845|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:18621042-73cc-4e74-b3cb-b35c400f1ece;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373101628 17 47283375 631774 C T . . AF_EXAC=0.00003;ALLELEID=620593;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283375C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:09d0fd53-4154-4560-a8c2-c5736646ca33|Illumina_Laboratory_Services,Illumina:683952;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199866795 17 47283379 1210201 G A . . ALLELEID=1200190;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283379G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1d619dd4-c055-4e5b-9008-b71ac01d963d;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47283385 695335 T G . . AF_ESP=0.00161;AF_EXAC=0.00167;AF_TGP=0.00120;ALLELEID=684682;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Thrombocytopenia|Abnormal_bleeding|Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47283385T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:242509|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d9b94a86-212e-420f-98f5-7157dba80330;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=36080296 17 47283410 1330313 CTG C . . ALLELEID=1320993;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283411TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47283411 953063 TG T . . AF_EXAC=0.00001;ALLELEID=959485;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283412del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2adf80d1-0f96-497c-bc2e-08c9c9d53c0a;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=753932639 17 47283450 996209 C T . . ALLELEID=983905;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283450C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2cef8483-3cc2-4e90-85ea-3f6d6c80e195;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1;RS=1399113954 17 47283473 696251 C T . . AF_ESP=0.00054;AF_EXAC=0.00032;AF_TGP=0.00020;ALLELEID=684683;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47283473C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1c295f1d-5639-44aa-b90f-86dd51a00fee|Illumina_Laboratory_Services,Illumina:1646960;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=151121691 17 47283530 255540 T C . . AF_ESP=0.01815;AF_EXAC=0.00526;AF_TGP=0.01278;ALLELEID=256224;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN169374|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_specified|not_provided;CLNHGVS=NC_000017.11:g.47283530T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:468295|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9b9e1625-5f63-4b04-aef5-9fa3f6098f24;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=5920 17 47283541 996166 T A . . AF_ESP=0.00008;ALLELEID=983906;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283541T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:0b50ce4a-11b2-4ebd-a950-73091ce0fb3b;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368325996 17 47283543 812735 C T . . AF_EXAC=0.00002;ALLELEID=801169;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283543C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:cb5cccf2-e599-48d8-b437-2b65b1a22be8;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781062792 17 47283544 996208 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=983907;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47283544G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:97ec2eaf-2ba8-40ac-95e1-7e7ca00d472c;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147782061 17 47283550 1330340 G A . . ALLELEID=1321020;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47283550G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001575|splice_donor_variant;ORIGIN=1 17 47284413 953011 G A . . AF_ESP=0.00438;AF_EXAC=0.01012;AF_TGP=0.01198;ALLELEID=959486;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284413G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:35531e72-0652-4b08-8459-0ba0d657b4a3;GENEINFO=ITGB3:3690;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147055245 17 47284442 631775 G A . . ALLELEID=620885;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284442G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:512445d7-229a-486a-b3dc-53a62b2f5343|Illumina_Laboratory_Services,Illumina:922830;GENEINFO=ITGB3:3690;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1567764299 17 47284473 1210198 G C . . ALLELEID=1200191;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284473G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a6e5c8f1-0d9d-4807-9f6a-1e506c8e3f2f;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47284493 996168 G A . . ALLELEID=983908;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284493G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9a3ac468-9e60-418f-bd5c-8f816e006872;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065095545 17 47284509 13567 T G . . AF_EXAC=0.00002;ALLELEID=28606;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284509T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P05106#VAR_010649|OMIM_Allelic_Variant:173470.0015|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:ce6d64be-3f9d-41cb-ada5-71ebdf8c6cb9;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918452 17 47284512 996188 T G . . ALLELEID=983909;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284512T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:862523d6-6c86-4068-aecb-c9e5446d8fb8;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=77963874 17 47284514 627066 G A . . ALLELEID=615582;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284514G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8b714a8a-f7f4-44a6-8332-c5c1413e5e30;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918445 17 47284514 13554 G T . . ALLELEID=28593;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284514G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P05106#VAR_003998|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:5a88ad57-bb3d-49ef-8dd3-2e7628ef1a81|OMIM_Allelic_Variant:173470.0002;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918445 17 47284518 1210169 T C . . ALLELEID=1200192;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284518T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:f8d813fb-e78f-4f0b-8cda-3f8f130b708d;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47284529 953053 A G . . AF_EXAC=0.00001;ALLELEID=959487;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284529A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:61faa416-bb84-4ca5-b091-b1cb2ab8bea3;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767548512 17 47284586 953061 C T . . ALLELEID=959488;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284586C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:6e519b7e-edcd-4486-8716-de4b353b32ec;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1;RS=1038392991 17 47284587 13557 G A . . AF_EXAC=0.00194;AF_TGP=0.00260;ALLELEID=28596;CLNDISDB=.|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=PEN(a)/PEN(b)_ALLOANTIGEN_POLYMORPHISM|Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47284587G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:563180|UniProtKB_(protein):P05106#VAR_003994|OMIM_Allelic_Variant:173470.0005|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:446275dc-0238-4035-8952-0d379747c458;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=5917 17 47284618 323864 C T . . AF_EXAC=0.00011;ALLELEID=338983;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47284618C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e4605fc3-1c7a-4dc7-9802-047d90e5a03c|Illumina_Laboratory_Services,Illumina:502051;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770144031 17 47284646 812736 C T . . ALLELEID=801170;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284646C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:fd701e2d-bd2e-4499-a8bf-f519215e51f0;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=958609406 17 47284692 1330341 ATGAG A . . ALLELEID=1321021;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284694_47284697del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGB3:3690;MC=SO:0001575|splice_donor_variant;ORIGIN=1 17 47284696 1210175 G T . . ALLELEID=1200193;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47284696G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:c49a54d1-519d-4936-ad13-a218a87cc99b;GENEINFO=ITGB3:3690;MC=SO:0001575|splice_donor_variant;ORIGIN=1 17 47286274 953047 G C . . ALLELEID=959489;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286274G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4a2ca60f-e835-4227-b8e2-93600aff608f;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065102210 17 47286292 996202 A G . . ALLELEID=983910;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286292A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:fdb42228-059f-4071-9acb-241f8f10568a;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065102310 17 47286297 1330327 C T . . ALLELEID=1321007;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286297C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47286307 1210206 C T . . ALLELEID=1200194;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286307C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:9cead35a-93be-4ac1-8655-ea2bc266eea0;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47286310 996163 T C . . ALLELEID=983911;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286310T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a7348126-93c5-4b00-af91-024cf35b361f;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=79208797 17 47286328 1210168 G A . . ALLELEID=1200195;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286328G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8e03c08f-5f4d-4573-a400-b438e3874ad7;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47286351 996178 CAG C . . ALLELEID=983912;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286352AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:26c4ccbb-4c0b-42ae-8e63-ac4b72a092c5;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=746626039 17 47286363 13555 C T . . AF_EXAC=0.00002;ALLELEID=28594;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286363C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P05106#VAR_004000|OMIM_Allelic_Variant:173470.0003|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:bf7df2fe-141e-481a-befc-3d870f5eab47;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918446 17 47286364 13553 G A . . ALLELEID=28592;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286364G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P05106#VAR_003999|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:896337ce-7c9e-40dc-89f7-3550c3ed61e6|OMIM_Allelic_Variant:173470.0001;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918444 17 47286369 996164 C T . . ALLELEID=983913;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286369C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:c89de113-f1ee-4763-b864-e97a20252268|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:c89de113-f1ee-4763-b864-;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1;RS=758633284 17 47286372 800945 G C . . ALLELEID=788911;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286372G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:712094bd-7187-4f2b-bc0f-90c0275d5d2f;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1598690937 17 47286373 1210177 A T . . ALLELEID=1200196;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286373A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:0346dbad-e2e5-4e6a-b339-8f1710ebf6a9;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47286385 13569 G A . . ALLELEID=28608;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286385G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:173470.0017|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4385c6b6-e02a-42cd-8333-e5f3b6ce5f5c|UniProtKB_(protein):P05106#VAR_069922;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=79560904 17 47286399 695644 A G . . AF_ESP=0.00092;AF_EXAC=0.00106;AF_TGP=0.00040;ALLELEID=684685;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47286399A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:161494|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d5f34307-829e-4e58-a8ad-8ec108021816;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=56173532 17 47286400 1330321 TC T . . ALLELEID=1321001;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286401del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47286405 996175 C A . . ALLELEID=983914;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286405C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:843b4fec-a11b-4e37-908a-d4ecf8c3b472;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065102917 17 47286406 627131 A G . . ALLELEID=615583;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286406A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7ebcee0b-01ec-4a5f-aefc-a7c698f2c6f6;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1598690979 17 47286416 953052 CTG C . . ALLELEID=959490;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286417TG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4df35ca4-3637-424e-8e92-e66ac5db8751;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1;RS=2065103002 17 47286419 1210170 T A . . ALLELEID=1200197;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47286419T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e113c60d-9ec3-4646-8d50-e6ea99e9f876;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1 17 47286423 850886 G A . . AF_EXAC=0.00012;ALLELEID=851723;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47286423G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e4899cc1-99c5-43c2-9c95-ac0668ade48f;GENEINFO=ITGB3:3690;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=745766760 17 47287128 13568 A T . . ALLELEID=28607;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47287128A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P05106#VAR_069923|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:5a767207-8239-464f-a198-590b669dbabb|OMIM_Allelic_Variant:173470.0016;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=79775494 17 47287134 1330335 A C . . ALLELEID=1321015;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47287134A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47287148 1330339 G A . . ALLELEID=1321019;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47287148G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47287151 1330337 AG A . . ALLELEID=1321017;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47287153del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47287169 953048 C T . . ALLELEID=959491;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47287169C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:009e5e3b-aeb7-448e-b62e-d46e1bab6c17;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1;RS=1193381168 17 47287184 1330332 C T . . ALLELEID=1321012;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47287184C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1 17 47287192 435536 T C . . AF_ESP=0.00008;AF_EXAC=0.00020;ALLELEID=429982;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN169374|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_specified|not_provided;CLNHGVS=NC_000017.11:g.47287192T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:98fe3613-1331-4d1e-b35d-cac06ddfb34a|Illumina_Laboratory_Services,Illumina:904953;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376378154 17 47287209 1330311 A C . . ALLELEID=1320991;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47287209A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47287213 1330349 C A . . ALLELEID=1321029;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47287213C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1 17 47289679 996190 A G . . ALLELEID=983915;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47289679A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1078de94-6e63-4f2d-bae8-adab516ecfbc;GENEINFO=ITGB3:3690;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=2065117719 17 47289681 996176 G T . . ALLELEID=983916;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47289681G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:5925bffc-2d34-408f-8a71-55c2fd81f0cf;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065117726 17 47289682 996159 A C . . ALLELEID=983917;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47289682A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:96a290ca-2034-477d-82dd-a8e62c4c5ce8;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065117736 17 47289694 953027 T C . . ALLELEID=959492;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47289694T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:450bb1de-5157-48db-a3e3-4e38f9f745fa;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1424237752 17 47289726 323865 A G . . AF_ESP=0.00015;AF_EXAC=0.00012;ALLELEID=328974;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47289726A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:99836e69-f8b5-45a8-8e8a-14b22acd4d46|Illumina_Laboratory_Services,Illumina:551847;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201550717 17 47289770 953026 C CT . . ALLELEID=959493;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47289771dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:298e6a7d-3129-4e98-98e2-9aa56e1a36ca;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2065118104 17 47289772 1210200 A C . . ALLELEID=1200198;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47289772A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2ea5f1db-fc35-4a2c-a862-5961399f7823;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47289772 1210199 A G . . ALLELEID=1200199;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47289772A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2e8e98fe-73fe-4082-9d1e-681d43b94bca;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47290243 1210186 A G . . ALLELEID=1200200;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47290243A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e773a25c-b94e-4e03-bb68-ef6ed0bfde03;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47290274 996205 GGTAA G . . ALLELEID=983918;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47290277_47290280del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:8a8e75a9-8380-452b-aecb-047b372dd08f;GENEINFO=ITGB3:3690;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=76562369 17 47290303 953060 G C . . ALLELEID=959494;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47290303G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:557b5685-f586-45d5-a68f-54e08dcf79d1;GENEINFO=ITGB3:3690;MC=SO:0001627|intron_variant;ORIGIN=1;RS=16941829 17 47290953 1330315 G GA . . ALLELEID=1320995;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47290957dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47290971 255535 A C . . AF_ESP=0.38505;AF_TGP=0.43111;ALLELEID=256226;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN169374|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_specified|not_provided;CLNHGVS=NC_000017.11:g.47290971A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:20034|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:d02c575c-86f4-4ca9-8969-b3dfc1bcfe3c;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=15908 17 47291027 13562 G A . . ALLELEID=28601;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47291027G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:173470.0010|UniProtKB_(protein):P05106#VAR_004002;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918449 17 47291088 996184 G A . . AF_EXAC=0.00001;ALLELEID=983919;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47291088G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:914c2078-033b-4a0d-ab33-48fb8c7f9e8e|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:914c2078-033b-4a0d-ab33-;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=74458693 17 47292139 1210171 G A . . ALLELEID=1200201;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292139G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:28eb87df-3676-4aa5-8ccb-d05fa26dbd6a;GENEINFO=ITGB3:3690|LOC110121475:110121475;MC=SO:0001583|missense_variant;ORIGIN=1 17 47292143 1210181 G A . . ALLELEID=1200202;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292143G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:f85b3017-27c0-4263-a5c6-3950d962a6cc;GENEINFO=ITGB3:3690|LOC110121475:110121475;MC=SO:0001583|missense_variant;ORIGIN=1 17 47292166 1330314 C T . . ALLELEID=1320994;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292166C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1 17 47292174 1330322 TC T . . ALLELEID=1321002;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292178del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47292177 323866 C T . . AF_ESP=0.00023;AF_EXAC=0.00068;AF_TGP=0.00080;ALLELEID=328991;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47292177C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:504404|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:77c51cf2-073d-4123-9bca-809de4125661;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200857868 17 47292184 323867 AAGG A . . ALLELEID=345000;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292187_47292189del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:3ef8fd10-5950-4513-8e5a-a40dbbc808c4|Illumina_Laboratory_Services,Illumina:762340;GENEINFO=ITGB3:3690;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=765171372 17 47292244 626993 A C . . ALLELEID=615586;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292244A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:caff5055-5000-4575-8ce3-dcd2e7d0fd0e;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1598694640 17 47292280 1330338 G T . . ALLELEID=1321018;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292280G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1 17 47292333 1210187 AT A . . ALLELEID=1200203;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292334del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:156ca3cf-d423-482c-9bdc-648db7c5bf10;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47292336 953012 C G . . ALLELEID=959495;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292336C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:41465704-1a3b-4e6f-a1c8-46e186157156;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1255017270 17 47292373 1330310 T C . . ALLELEID=1320990;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292373T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47292397 1210183 TC T . . ALLELEID=1200204;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292400del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:12f70b0e-09c8-40e9-9df5-cf9b1b73031b;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47292402 1330336 GC G . . ALLELEID=1321016;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292403del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47292416 1210209 GC G . . ALLELEID=1200205;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292421del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4418c984-b375-4518-870d-505f42d2959f;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47292422 13561 G A . . AF_TGP=0.00379;ALLELEID=28600;CLNDISDB=.|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Ca/Tu_ALLOANTIGEN_POLYMORPHISM|Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47292422G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:f8ea8df0-2867-4351-8d44-52a3d6cf1b73|Illumina_Laboratory_Services,Illumina:644213|OMIM_Allelic_Variant:173470.0009|UniProtKB_(protein):P05106#VAR_003996;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=13306487 17 47292425 953059 AG A . . ALLELEID=959496;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292428del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:2554b67a-6118-45a2-b51b-27e2e3f644a8;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1393664515 17 47292436 323868 G A . . ALLELEID=345003;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292436G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1216c199-9689-48bb-88e5-06d4d97209e8|Illumina_Laboratory_Services,Illumina:577758;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=750612657 17 47292472 953010 T C . . ALLELEID=959497;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292472T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:6f267b7c-2202-4981-a37d-6ee8ca25f48e;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1397448267 17 47292473 953007 G A . . ALLELEID=959498;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292473G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:6de7ba61-5b33-4c30-84fc-dbe0b46b878b;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065130922 17 47292524 996174 G C . . ALLELEID=983920;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292524G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:fb8a77c7-778b-45b9-b85e-90b1dc27f737;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1395325049 17 47292568 1330351 G C . . ALLELEID=1321031;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47292568G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47299314 977132 G A . . ALLELEID=965263;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299314G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:35e048e3-fc85-4711-aaa6-3c21d109e705;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065157059 17 47299319 953008 T C . . ALLELEID=959499;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299319T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:19f5e234-9525-4f78-8ce9-7c6fccaf0b73;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2065157102 17 47299344 1330331 AC A . . ALLELEID=1321011;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299345del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47299349 996177 G A . . ALLELEID=983921;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299349G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:07efb939-565e-4be5-af9f-103280a60630;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141912699 17 47299353 1330324 G A . . ALLELEID=1321004;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299353G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1 17 47299401 1330323 CCAGCAATGGGCTGCTGTG GTCACA . . ALLELEID=1321003;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299401_47299419delinsGTCACA;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47299407 953049 AT A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=959500;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299408del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:221093d4-2e87-4eb0-97cd-9d9dfcab533a;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=780710721 17 47299417 695455 G A . . AF_ESP=0.00038;AF_EXAC=0.00050;ALLELEID=684688;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47299417G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:501661;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139884210 17 47299418 1210194 T C . . ALLELEID=1200206;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299418T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:061617d0-1919-423b-80d3-0f65843148e7;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47299418 996182 T G . . ALLELEID=983922;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299418T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:72cebe41-4367-4953-81a8-fb42ba7bc4c6;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=747534508 17 47299452 1210180 G A . . ALLELEID=1200207;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299452G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:4cfe83d4-e335-4d61-9f3c-8ae791324595;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1 17 47299488 996162 G A . . ALLELEID=983923;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299488G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:c881c2c9-1906-4660-83a4-6516d8673ba9;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1181336139 17 47299519 323869 C T . . AF_EXAC=0.00066;AF_TGP=0.00240;ALLELEID=338988;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299519C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:95c0396b-e16d-49aa-a1ec-6292408cc854|Illumina_Laboratory_Services,Illumina:101806;GENEINFO=ITGB3:3690;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149823724 17 47299531 996179 G A . . ALLELEID=983924;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299531G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1cfa22cd-0265-4060-8add-366900c36e41;GENEINFO=ITGB3:3690;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=2065158302 17 47299535 953041 G T . . ALLELEID=959501;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47299535G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:857e9a6a-07f9-413a-b341-bac60f15aa5d;GENEINFO=ITGB3:3690;MC=SO:0001627|intron_variant;ORIGIN=1;RS=764779088 17 47300488 13565 G T . . ALLELEID=28604;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47300488G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:173470.0013;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1;RS=121918451 17 47300524 225395 G A . . AF_EXAC=0.00054;AF_TGP=0.00060;ALLELEID=227393;CLNDISDB=MONDO:MONDO:0008552,MedGen:C1861195,OMIM:187800|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Platelet-type_bleeding_disorder_16|Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47300524G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:46ae73f6-57c9-49fe-9bfc-34734427d618|Illumina_Laboratory_Services,Illumina:846110;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=70940817 17 47300544 1330334 C A . . ALLELEID=1321014;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47300544C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1 17 47300549 323870 G A . . AF_ESP=0.00015;AF_EXAC=0.00003;ALLELEID=346342;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47300549G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a31fbdfe-a3ce-467e-956b-573cd317b11d|Illumina_Laboratory_Services,Illumina:803644;GENEINFO=ITGB3:3690;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369443204 17 47300579 953009 G A . . ALLELEID=959502;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47300579G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:80420233-2143-425b-9de2-3f4fa059e781;GENEINFO=ITGB3:3690;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=2065163860 17 47302770 1330316 CTG C . . ALLELEID=1320996;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47302772GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 47302786 1210208 C T . . ALLELEID=1200208;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47302786C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:7aa691a8-c19c-4980-8800-179d9e1738af;GENEINFO=ITGB3:3690;MC=SO:0001587|nonsense;ORIGIN=1 17 47302817 953051 TC T . . ALLELEID=959503;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47302819del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:655285f6-312a-42c6-a721-9f9a8fa8843f;GENEINFO=ITGB3:3690;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=780384800 17 47307483 1330333 G T . . ALLELEID=1321013;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47307483G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ITGB3:3690|EFCAB13-DT:102724508;MC=SO:0001583|missense_variant;ORIGIN=1 17 47307532 696104 C T . . AF_ESP=0.00008;AF_EXAC=0.00018;ALLELEID=684690;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005|MedGen:CN517202;CLNDN=Glanzmann_thrombasthenia|not_provided;CLNHGVS=NC_000017.11:g.47307532C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:922274|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:cd180f2a-b707-4f8d-9201-8a7e57ea550a;GENEINFO=ITGB3:3690|EFCAB13-DT:102724508;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201741054 17 47307584 13564 C T . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=28603;CLNDISDB=MONDO:MONDO:0008552,MedGen:C1861195,OMIM:187800|MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Platelet-type_bleeding_disorder_16|Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47307584C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:173470.0012|ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:1080f71d-0827-4698-afdc-c5d1cea8c32e;GENEINFO=ITGB3:3690|EFCAB13-DT:102724508;MC=SO:0001587|nonsense;ORIGIN=9;RS=121918450 17 47310138 1210204 G A . . ALLELEID=1200209;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47310138G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:e3a7ffb2-c74c-43a7-a3c8-c349ddc0d26b;GENEINFO=ITGB3:3690|EFCAB13-DT:102724508;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1 17 47310169 13556 T C . . ALLELEID=28595;CLNDISDB=MONDO:MONDO:0031009,MedGen:CN296334,OMIM:619267|MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia_2|Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47310169T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P05106#VAR_004005|OMIM_Allelic_Variant:173470.0004;GENEINFO=ITGB3:3690|EFCAB13-DT:102724508;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918447 17 47310193 996183 C T . . ALLELEID=983925;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47310193C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:a6821494-10c9-4e64-8e3c-7bf1f427f06c;GENEINFO=ITGB3:3690|EFCAB13-DT:102724508;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1377491769 17 47310721 323881 C T . . AF_TGP=0.00579;ALLELEID=339014;CLNDISDB=MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:ORPHA849,SNOMED_CT:32942005;CLNDN=Glanzmann_thrombasthenia;CLNHGVS=NC_000017.11:g.47310721C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Platelet_Disorders_Variant_Curation_Expert_Panel,ClinGen:05f01ee1-bfed-4601-b98a-9a88a13b91ee|Illumina_Laboratory_Services,Illumina:481611;GENEINFO=ITGB3:3690|EFCAB13-DT:102724508;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=192380904 17 63488529 375659 T TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC . . ALLELEID=362507;CLNDISDB=MedGen:CN236493;CLNDN=captopril_response_-_Efficacy;CLNHGVS=NC_000017.11:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=PharmGKB:982047862|PharmGKB:982047862PA448780;GENEINFO=ACE:1636;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1799752 17 80104554 557429 G C . . ALLELEID=548765;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80104554G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:6127f7dc-40cf-475c-b42e-7da9d7f47429;GENEINFO=GAA:2548;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1555598460 17 80104587 984798 A T . . ALLELEID=972896;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104587A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:49d3d2d1-50c1-40a9-ad86-9329acc9d719;GENEINFO=GAA:2548;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=786204467 17 80104588 984802 T C . . ALLELEID=972897;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104588T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:29feb6c3-10a4-4799-9ca8-6c365f460b86;GENEINFO=GAA:2548;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant;ORIGIN=1;RS=2039024047 17 80104590 560377 G T . . ALLELEID=551432;CLNDISDB=Human_Phenotype_Ontology:HP:0002147,Human_Phenotype_Ontology:HP:0002906,Human_Phenotype_Ontology:HP:0003078,Human_Phenotype_Ontology:HP:0003236,Human_Phenotype_Ontology:HP:0003525,Human_Phenotype_Ontology:HP:0003531,Human_Phenotype_Ontology:HP:0008164,MONDO:MONDO:0007402,MedGen:C0241005,OMIM:123320|MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Elevated_circulating_creatine_kinase_concentration|Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104590G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:c365a331-1b7f-48ef-814e-1feff0f64f2b;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1567825175 17 80104640 555040 CG C . . ALLELEID=548768;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104641del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:7be90f98-3deb-4709-a72e-f2671b28e7ea;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555598544 17 80104676 526535 CCTA C . . ALLELEID=531910;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104679_80104681del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:6b399c3b-9524-48b9-a750-034bad29298b;GENEINFO=GAA:2548;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=1278892703 17 80104704 426593 C T . . AF_EXAC=0.00001;ALLELEID=415589;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80104704C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:79019119-b26c-4336-8958-b3272cd7e778|Broad_Institute_Rare_Disease_Group,_Broad_Institute:b83bdb13-e262-4abd-a20a-ab659995e215;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=767409395 17 80104717 325774 G T . . AF_EXAC=0.00009;ALLELEID=340661;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80104717G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:4adac83a-4077-4288-9a87-8f6c971bcd65|Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:GAA_p.Gly44Val|Illumina_Laboratory_Services,Illumina:145973;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=550609502 17 80104755 370124 C T . . ALLELEID=358484;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104755C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:a9a94504-8171-4e5e-98ae-30d711747395;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057516251 17 80104758 188903 C T . . AF_EXAC=0.00000;AF_TGP=0.00020;ALLELEID=186988;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104758C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:754c7592-35d5-41bd-83e3-3babcec0b5d8;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=201185475 17 80104815 371302 GCAGTGCCCACA G . . ALLELEID=358485;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104822_80104832del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:dc90ac1d-ebd6-428f-bb4a-d24b6f97f6a9;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057517165 17 80104827 557360 C T . . ALLELEID=548360;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104827C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:dfb7b388-cfc0-4e2d-a8c4-5c1e4844c6ea;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555598687 17 80104837 282842 T TC . . ALLELEID=267079;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80104844dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:b2b5574c-2f8a-4ce7-b32e-aa21d871230d|Invitae:2601777;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=761317813 17 80104837 551592 TC T . . ALLELEID=549140;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104844del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=761317813 17 80104852 283219 G A . . AF_ESP=0.00023;AF_EXAC=0.00008;ALLELEID=267456;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80104852G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P10253#VAR_068566|Broad_Institute_Rare_Disease_Group,_Broad_Institute:869daa67-5cd7-4abf-9dbd-ffd9b2a6d27b|Illumina_Laboratory_Services,Illumina:710251;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200586324 17 80104862 654482 C A . . ALLELEID=646864;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104862C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:c94287b0-819c-42f9-931c-1aabe0fe0d45;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1232001857 17 80104866 370458 CCT C . . ALLELEID=358486;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104867_80104868del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:9c3f906c-869b-4686-9b9b-c498c12a2e14|Broad_Institute_Rare_Disease_Group,_Broad_Institute:0b7d962c-eade-4845-9985-497a81e50ffa;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057516503 17 80104910 92484 T C . . AF_ESP=0.73158;AF_EXAC=0.73668;AF_TGP=0.71446;ALLELEID=98393;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:ORPHA244|MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Primary_ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80104910T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:1e551ab9-03f5-4129-9604-a9da6ebea09c|Illumina_Laboratory_Services,Illumina:21181;GENEINFO=GAA:2548|CCDC40:55036;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1800300 17 80104927 526523 AG A . . ALLELEID=532292;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104928del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:33c822cc-8c3b-4556-a242-ebc53187a36b;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555598796 17 80104929 188996 C T . . ALLELEID=186989;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104929C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:d382c6c9-a66c-4284-9719-b0cd451e6985;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=786204614 17 80104938 553894 C T . . ALLELEID=549141;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104938C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:ab2f63ee-a9db-4f17-959b-d28f30a191aa;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555598800 17 80104950 189059 AT A . . ALLELEID=186990;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104951del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204661 17 80104961 556716 CT C . . ALLELEID=548775;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104962del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555598824 17 80104963 932904 G A . . ALLELEID=921196;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104963G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:34cd2c9d-0af8-4990-ae0a-5ee80f34ae19;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1011631903 17 80104963 552747 GGT G . . ALLELEID=549144;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80104965_80104966del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1207988953 17 80104976 550713 A ACCCAGCTAC . . ALLELEID=548777;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104977CCCAGCTAC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:413bd183-b113-4c2b-b8d8-d6d9ba667cd0;GENEINFO=GAA:2548;MC=SO:0001821|inframe_insertion;ORIGIN=1;RS=1555598846 17 80104976 371580 AC A . . ALLELEID=358487;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104979del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:fad4b958-eef9-4b84-96cf-9fa7bee3e3eb;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057517381 17 80104985 932906 C A . . ALLELEID=921197;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80104985C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:31db1a86-3a2d-4b40-ad3e-b72a3a3e4511;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=2039042313 17 80105022 554096 AT A . . ALLELEID=548388;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105023del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555598869 17 80105030 1327503 C G . . ALLELEID=1318076;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80105030C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1 17 80105032 551530 C CG . . ALLELEID=548371;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80105034dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:b9b37cc4-0c75-405f-a509-2fb0b121fb8b;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555598880 17 80105042 932902 GACCCGTACC G . . ALLELEID=921198;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80105047_80105055del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:be64ca61-d8f1-4826-bb70-79a31ad8bde6;GENEINFO=GAA:2548;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=2039044722 17 80105052 371501 AC A . . ALLELEID=358488;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105057del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:ed7c0f06-6f0f-4e76-847b-7067e361ae4c|Invitae:11650940;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057517320 17 80105065 596146 TCC T . . ALLELEID=587207;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105068_80105069del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:38310e9d-9be4-498f-9717-df269b61d625|Invitae:3167797;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=764750389 17 80105110 4033 CT C . . AF_ESP=0.00016;AF_EXAC=0.00007;ALLELEID=19072;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105111del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1319448|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:254faa15-f83f-41e6-ab21-e08061aa33a7|Broad_Institute_Rare_Disease_Group,_Broad_Institute:1efdd949-f073-4f5f-b727-fef5720f127f|OMIM_Allelic_Variant:606800.0014|HGMD:CD941680|Illumina_Laboratory_Services,Illumina:806364;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=386834235 17 80105110 189057 CTG C . . AF_EXAC=0.00001;ALLELEID=186991;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80105111_80105112del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:2a9120c5-f281-4d43-8b18-edc528f11221|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:abc2a8a5-c942-42ac-9a92-4a7b9cede5c9;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=767882689 17 80105131 499380 C G . . ALLELEID=490804;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105131C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:d02d78ca-2f3b-4475-b091-496e72e40826;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200524747 17 80105132 370637 G T . . ALLELEID=358489;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105132G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GAA:2548;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143523371 17 80105745 92485 C G . . AF_ESP=0.67269;AF_EXAC=0.67586;AF_TGP=0.60284;ALLELEID=98394;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80105745C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:21186|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:051e9fdb-5eaa-45ab-9289-f955f7c13997;GENEINFO=GAA:2548;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3816256 17 80105775 370276 C A . . ALLELEID=358490;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105775C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:9938ac41-3cc5-4988-93eb-685d62d291a7|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:08e9886c-b096-4ec6-ac73-d3614d005d8a;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=376229714 17 80105857 189065 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=186993;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105857G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P10253#VAR_018079|Broad_Institute_Rare_Disease_Group,_Broad_Institute:3acff0eb-24a2-452d-8ee1-d59889ce2588|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:0ef0c8e1-2dac-4aa5-b960-5bedcbc50b26;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370950728 17 80105860 255365 G T . . AF_EXAC=0.00002;ALLELEID=256517;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNHGVS=NC_000017.11:g.80105860G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P10253#VAR_068572|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:a1c5bccf-9c05-4db6-ada4-21d24f66c31c;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=530478036 17 80105870 92488 G A . . AF_ESP=0.67241;AF_EXAC=0.67599;AF_TGP=0.60244;ALLELEID=98397;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80105870G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:5209e127-3f93-4166-b5f2-d98600bdd5c9|UniProtKB_(protein):P10253#VAR_004287|Illumina_Laboratory_Services,Illumina:21200;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1042395 17 80105872 189188 C T . . AF_EXAC=0.00003;ALLELEID=186994;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80105872C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:ae3e1504-d068-414a-ac8e-b270e5fa1d23|UniProtKB_(protein):P10253#VAR_029026|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:1f6327c8-2794-45a5-a3b1-4998dee695e7;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=757700700 17 80105890 196222 G A . . AF_ESP=0.00069;AF_EXAC=0.00021;AF_TGP=0.00020;ALLELEID=193383;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80105890G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:GAA_p.Val230Met|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:23ddaf9d-ab98-4fe2-92b3-4d5affc12b5a;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145866792 17 80107579 556853 CT C . . ALLELEID=548398;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107580del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:e32471b6-613c-46e4-a4cd-33dfe10d4b9a;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555599594 17 80107584 932903 CTT C . . ALLELEID=921199;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107586_80107587del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:1b742d4e-033e-469e-b02a-e368ad095141;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2039116471 17 80107598 288505 TC T . . ALLELEID=272742;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80107600del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:f22bc2fc-2e19-409d-85f3-342a1122c915;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886043920 17 80107618 553981 C CT . . ALLELEID=548400;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107619dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:7a5678af-163d-421d-b3f4-15705f3aa88f;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555599619 17 80107627 984801 C T . . ALLELEID=972898;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107627C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:24039e0f-56fe-4560-913a-4fc9c4967106;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=2039118159 17 80107630 550104 T TC . . ALLELEID=548382;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107630_80107631insC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:d5329ec3-79f1-4fc7-a4db-66c65f93d1be;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555599637 17 80107630 188880 TATATCACAGGCCTCGCCGA C . . ALLELEID=186995;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80107630_80107649delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:61f9f60d-aabd-4045-9a71-ca42e6a884e6;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204532 17 80107631 556534 A AT . . ALLELEID=548389;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107632dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:ae1dd2a3-8503-4f32-a62f-72c9de2ebc69;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555599644 17 80107648 188806 G A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=186996;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80107648G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:9ae883fe-7f4c-450d-bd1a-eccd65cd4271|UniProtKB_(protein):P10253#VAR_029028;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201896815 17 80107668 656144 GCTCAGCACCAGCTGGACCAGGATCA G . . ALLELEID=646880;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107670_80107694del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:0ad423df-1060-458b-8ee9-3a8e9b43de5e;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1598575231 17 80107687 1327504 AGGATCACCCTGTGGAACCG A . . ALLELEID=1318077;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107691_80107709del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 80107705 283894 C T . . AF_ESP=0.00038;AF_EXAC=0.00021;AF_TGP=0.00040;ALLELEID=268131;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80107705C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:6a43fe2d-1dea-4a99-bb53-737388ab566c|Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:GAA_c.841C>T;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142967546 17 80107716 188477 G A . . AF_ESP=0.00853;AF_EXAC=0.00694;AF_TGP=0.00240;ALLELEID=186554;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80107716G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:130901|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:50167|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:d791b5fc-8883-4686-9ee0-24599175ad75|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1783091;GENEINFO=GAA:2548;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=142626724 17 80107717 281052 C T . . ALLELEID=265289;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80107717C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P10253#VAR_068582|Broad_Institute_Rare_Disease_Group,_Broad_Institute:c969f95f-e077-4cbb-8437-5bdfd5505d05;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042086 17 80107727 92489 A AGCAGCGG . . ALLELEID=98398;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80107729_80107730insAGCGGGC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=Invitae:692660|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:ea364aeb-ae6b-4709-a498-251ba65289a1;GENEINFO=GAA:2548;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3071247 17 80107812 956209 C T . . AF_EXAC=0.00008;ALLELEID=950358;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80107812C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:fec2843c-a1e1-4371-ab06-5be3508a5410;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773417785 17 80107813 1327502 T C . . ALLELEID=1318075;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107813T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1 17 80107817 637958 C G . . ALLELEID=625779;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107817C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:14fc9926-d268-4f0f-aab3-4067466438ad;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=763216519 17 80107862 92490 A T . . AF_ESP=0.12131;AF_EXAC=0.08025;AF_TGP=0.11022;ALLELEID=98399;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80107862A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:21216;GENEINFO=GAA:2548;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1800303 17 80107866 188797 G A . . AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=186997;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80107866G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:de8ae80b-693a-4177-8218-1d731456b97c|UniProtKB_(protein):P10253#VAR_018084|Broad_Institute_Rare_Disease_Group,_Broad_Institute:2d7d6584-be1c-49d9-ac02-bd060e64a3a7;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=543300039 17 80107873 282254 TC T . . ALLELEID=266491;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80107875del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:a8280db4-ba7e-4d75-80c0-a8279ea96720;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886042358 17 80107894 558700 T A . . ALLELEID=548778;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107894T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121907936 17 80107897 932905 G A . . ALLELEID=921200;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80107897G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:8b8a4880-5d32-489b-a5d8-17af6b017a6d;GENEINFO=GAA:2548;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1403691329 17 80108303 1327501 G GC . . ALLELEID=1318074;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108305dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 80108323 550355 G A . . ALLELEID=548409;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108323G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:9f5cddfd-829f-4b18-bcac-a5752aaa7335;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555599960 17 80108362 597147 TGG T . . ALLELEID=588208;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108364_80108365del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:4b724960-98be-441e-b952-6b58ca3dec8e;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1567829962 17 80108383 188841 TG T . . ALLELEID=186998;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108385del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:2368250|Broad_Institute_Rare_Disease_Group,_Broad_Institute:95892c9e-499b-42be-8ee3-1c4dc6a87ee1|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:5c8872e4-cd01-4359-8910-267bb59ac772;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204507 17 80108390 1327499 GC G . . ALLELEID=1318072;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108391del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 80108396 423925 C A . . ALLELEID=410291;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108396C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:f8d529ac-28e8-4127-8ae9-e386d62c4cf0;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064796703 17 80108398 284093 T C . . AF_EXAC=0.00001;ALLELEID=268330;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108398T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:7b23f882-c6fd-4d3b-b9ef-d2268a89f53a|Broad_Institute_Rare_Disease_Group,_Broad_Institute:c32c6fa5-01f8-4028-ac43-55405ed8edfe|UniProtKB_(protein):P10253#VAR_018086;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766074609 17 80108409 420101 G T . . ALLELEID=410292;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108409G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:7b675ec6-17e8-44e0-8760-650065e86485;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064794288 17 80108511 370810 CT C . . ALLELEID=358494;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108512del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:736d1a81-75c6-48d7-aacf-00c0535e37af;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057516785 17 80108539 497032 TG T . . ALLELEID=488456;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108543del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:47478b30-7442-41c3-a8b7-9bccaf02ed15|Broad_Institute_Rare_Disease_Group,_Broad_Institute:34d05bb2-101d-4c5c-ab5e-90880395d6c1;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=754134578 17 80108541 189041 GG C . . ALLELEID=186999;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108541_80108542delinsC;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:9158564f-80b6-4c7a-82de-d3e89e0d76a9;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204646 17 80108547 595469 C G . . ALLELEID=586531;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108547C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:e2643a0a-ade5-4d0e-be57-7f62b573760d;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1567830317 17 80108554 370263 AC A . . ALLELEID=358496;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108556del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4751519|Broad_Institute_Rare_Disease_Group,_Broad_Institute:a2704afd-af99-4dfc-8e95-931659800148|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:6121e8fb-aef5-418f-98d7-337d796d4f45;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=757458607 17 80108563 501294 AC A . . ALLELEID=492718;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108566del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:ee432de0-5d88-4fc1-be4c-e9cc41b8a483;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555600102 17 80108569 188858 C T . . ALLELEID=187000;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108569C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:1a79a341-f719-450a-8ae2-b5e03aef8015;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=786204517 17 80108600 370510 T TC . . ALLELEID=358497;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108605dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:588d5681-ac4f-4e84-afdc-e2962954e613;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057516546 17 80108605 371457 CT C . . ALLELEID=358498;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108606del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:0e9ea75d-d13a-4057-8f8e-ffac66ee7c57;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057517286 17 80108705 92461 G A . . AF_ESP=0.67077;AF_EXAC=0.67844;AF_TGP=0.60284;ALLELEID=98370;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80108705G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:e6cd9da6-6885-4e33-8c81-2618a7acb9b5|Illumina_Laboratory_Services,Illumina:21228;GENEINFO=GAA:2548;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1800304 17 80108724 371235 A G . . ALLELEID=358500;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108724A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:aff952c5-648a-4601-9928-39d314fce6ef|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:e8e8f441-1f7e-4b2e-8c9f-940203b26cb8;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=560575383 17 80108788 284497 A G . . AF_EXAC=0.00115;AF_TGP=0.00200;ALLELEID=268734;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiomyopathy|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80108788A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:a163d874-5535-499a-a421-67c8dfbbf089|Broad_Institute_Rare_Disease_Group,_Broad_Institute:4dcab0fb-7228-4b95-b6fe-b5e3be8167a0|Illumina_Laboratory_Services,Illumina:551425;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200294882 17 80108790 501777 G A . . AF_ESP=0.00008;AF_EXAC=0.00006;AF_TGP=0.00040;ALLELEID=493201;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80108790G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:68d0c25e-977d-4211-b166-3f52d076d6b1;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375433002 17 80108793 552165 C CTGCA . . ALLELEID=548415;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80108794_80108797dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:62c8e51f-dd89-40ac-85d3-f1635ed75b4c|Invitae:4946164;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=996798292 17 80109943 972762 A G . . ALLELEID=961119;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80109943A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:f85444c3-0a70-4f99-a3d5-e41c6d24a873|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:a8b50552-ecce-463d-bf19-d2b244a726c3;GENEINFO=GAA:2548;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1410829147 17 80109947 556985 T TCCTGCCATCAGCAGCTCGGGC . . ALLELEID=549168;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80109954_80109974dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:fd73eed8-5074-4948-b8e9-139cf8a36027;GENEINFO=GAA:2548;MC=SO:0001821|inframe_insertion;ORIGIN=1;RS=1555600488 17 80109950 286018 T C . . AF_EXAC=0.00081;AF_TGP=0.00180;ALLELEID=270255;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80109950T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:295411|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:6677c5dc-80b2-4ac1-b197-6c8a76d3a6a9;GENEINFO=GAA:2548;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200007324 17 80109970 281330 C G . . AF_ESP=0.00177;AF_EXAC=0.00043;AF_TGP=0.00220;ALLELEID=265567;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80109970C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:b11d7715-7a62-4071-9760-f92fefa72998;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=7215458 17 80109972 984799 GC G . . ALLELEID=972899;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80109974del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:44b4e93e-0187-4302-bdbe-d2fde8617a39;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2039191420 17 80110014 932898 G GTTT . . ALLELEID=921201;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80110016_80110018dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:b01edb77-a231-4093-aba6-039cd4f644f9;GENEINFO=GAA:2548;MC=SO:0001821|inframe_insertion;ORIGIN=1;RS=2039193694 17 80110024 932895 CCAA C . . ALLELEID=921202;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80110026_80110028del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:57060e02-3919-42fb-9267-00946b08b754;GENEINFO=GAA:2548;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=748893499 17 80110028 188874 CGAGA C . . AF_EXAC=0.00002;ALLELEID=187002;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80110029_80110032del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:945730af-c6de-4db4-8be4-afb5df17ff92|Broad_Institute_Rare_Disease_Group,_Broad_Institute:10ad7071-e185-453a-b600-d23c0c86e52b;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=770276275 17 80110047 694453 AT A . . ALLELEID=682392;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80110049del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:9867ef98-ff25-4642-96c4-489c280d4a3a;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1598580364 17 80110725 526521 A G . . ALLELEID=531972;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80110725A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:bdcc8361-cfe2-43b1-b69e-5335fe41ed5f;GENEINFO=GAA:2548;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=1555600730 17 80110726 189184 G C . . ALLELEID=187003;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80110726G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:682ed058-f468-461f-a6bd-5e27eb64c357|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:2dcfdf9c-a8cc-46b8-a69c-e3dbad873c1c;GENEINFO=GAA:2548;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=147804176 17 80110767 379593 C T . . AF_ESP=0.00008;ALLELEID=378821;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80110767C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:413a492b-ef7e-478d-8e27-c4710ac8e09b|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:74ca2bbb-1318-49e8-9e55-889570530623;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148842275 17 80110785 556959 G A . . AF_EXAC=0.00001;ALLELEID=548413;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80110785G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:967a4b39-aeb4-4f91-bc24-14484107bf7e|Broad_Institute_Rare_Disease_Group,_Broad_Institute:6684dc53-bcdb-4148-a630-c85b8f9260e5;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=766680292 17 80110837 189025 G A . . AF_ESP=0.00008;ALLELEID=187005;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80110837G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:972d2bc8-742a-4488-875a-7f7108fd8abf|Broad_Institute_Rare_Disease_Group,_Broad_Institute:fab59097-55d0-4f34-af1f-66459cd458ed;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=140826989 17 80110941 932901 G GACA . . ALLELEID=921203;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80110942_80110944dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:42aef045-9871-455c-9ebf-430f31cf07d4;GENEINFO=GAA:2548;MC=SO:0001821|inframe_insertion;ORIGIN=1;RS=2039221468 17 80110954 371433 CT C . . ALLELEID=358503;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80110956del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:cbc7bf67-c0ec-4500-ae60-6483c93d64bb;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057517267 17 80111997 932899 AC A . . ALLELEID=921204;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80112000del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:110d840c-8348-4d3f-a23b-6ae54ad80ed5;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2039246615 17 80112001 279811 T C . . AF_EXAC=0.00002;ALLELEID=265030;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112001T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:5969ab5f-58f8-430e-8711-0d6a7da5735e|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:e4b58c43-9d77-4025-86b8-ffa2f7a5b440|UniProtKB_(protein):P10253#VAR_018092;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779556619 17 80112033 370357 C T . . ALLELEID=358504;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80112033C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:779d712a-8d04-4013-8f4b-68f5464ecb1b;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057516426 17 80112035 520974 GT G . . ALLELEID=512334;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MeSH:D030342,MedGen:C0950123;CLNDN=Glycogen_storage_disease,_type_II|Inborn_genetic_diseases;CLNHGVS=NC_000017.11:g.80112038del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:d7db5b50-1e91-445a-8c65-098c47e56658;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555601234 17 80112056 555153 C G . . ALLELEID=548431;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112056C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:fe9faffe-8802-46ea-aae3-ca38176a6fdf;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765362308 17 80112101 286458 G A . . ALLELEID=270695;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112101G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:e4c678f5-39e9-47cd-b721-a90452043ec4;GENEINFO=GAA:2548;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=886043399 17 80112619 551558 C A . . AF_EXAC=0.00002;ALLELEID=548800;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112619C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:f9c1cc1f-adef-448c-be43-bec3e1c53bce;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=753505203 17 80112621 640911 C T . . AF_EXAC=0.00001;ALLELEID=646900;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112621C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:2b049337-9b2b-49f0-9818-7e425426703b;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764670084 17 80112625 593486 C A . . ALLELEID=584550;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112625C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:8f8031f9-e04c-47ce-b028-62c2efb3ddcd;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=374470794 17 80112625 194154 C T . . ALLELEID=191317;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112625C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:f0411e8d-5e25-446f-87e7-1c61e24dca2e|UniProtKB_(protein):P10253#VAR_068614;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374470794 17 80112635 556265 T TGGCCACGGCCGATACGCC . . ALLELEID=549171;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80112642_80112659dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:a8af0c13-074c-4799-add9-f452c9e320ae;GENEINFO=GAA:2548;MC=SO:0001821|inframe_insertion;ORIGIN=1;RS=1555601409 17 80112644 370866 C CCGATA . . ALLELEID=358506;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112647_80112651dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:9dd079f9-ba49-4a93-908f-77d8ea766c37;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057516826 17 80112645 972803 C T . . AF_EXAC=0.00003;ALLELEID=961127;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112645C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:470c07a6-5b73-444e-9001-c70866eb650d;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=749529161 17 80112648 189144 T TA . . AF_EXAC=0.00002;ALLELEID=187007;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112649dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:f17c6338-2255-4ce6-93e0-2e1565023eec|Invitae:4946308|Broad_Institute_Rare_Disease_Group,_Broad_Institute:a5027f68-b5a5-4555-bbd9-5d3e00d003fb;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=786204727 17 80112649 188936 AC A . . AF_EXAC=0.00004;ALLELEID=187008;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112650del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:d9cad90e-ae6b-46d3-a933-96b29bf0227f|Broad_Institute_Rare_Disease_Group,_Broad_Institute:d1a55c42-61d8-4ece-8fd3-a97adbc6dc54;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=781088002 17 80112664 167113 C A . . AF_ESP=0.00015;ALLELEID=177162;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112664C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P10253#VAR_068619|HGMD:CM082728|Broad_Institute_Rare_Disease_Group,_Broad_Institute:2768f1d6-2f29-4eb2-b152-845d32deb6a0|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:92ec254b-4a9f-4cac-929c-5b6222db49b4;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369531647 17 80112669 693996 G GA . . ALLELEID=681815;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112670dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:a6d35c95-71e2-47f1-902b-96063f067f0c;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1475559733 17 80112716 283971 G T . . AF_TGP=0.00060;ALLELEID=268208;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112716G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:92e703db-5f21-4cf2-88cf-677113328e86;GENEINFO=GAA:2548;MC=SO:0001627|intron_variant;ORIGIN=1;RS=528282884 17 80112920 188728 G A . . AF_ESP=0.00008;ALLELEID=187010;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112920G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:c6432e7e-a4b6-4f0f-bf1b-2093a8b9bc02|Illumina_Laboratory_Services,Illumina:1299439|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:de5d2dea-4287-467e-bb50-628cbd11edc8|UniProtKB_(protein):P10253#VAR_004304;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368438393 17 80112922 4029 C A . . ALLELEID=19068;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C0751173|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|Glycogen_storage_disease_type_II,_infantile|not_provided;CLNHGVS=NC_000017.11:g.80112922C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:f6ad0fdc-7ec5-4ba7-8e71-0616a619aeef|OMIM_Allelic_Variant:606800.0010|UniProtKB_(protein):P10253#VAR_004302;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=21;RS=28940868 17 80112928 663894 C A . . ALLELEID=646901;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80112928C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:32be167c-3e1a-48c3-be55-dd57fdcb506a;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=776948121 17 80112929 188902 G A . . AF_EXAC=0.00010;AF_TGP=0.00020;ALLELEID=187012;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112929G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:01973186-16bb-49bd-b5ba-23f71ddbd88d|UniProtKB_(protein):P10253#VAR_004306|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:2485e980-b2ce-432e-871f-861aec685091;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=536906561 17 80112936 632822 TG T . . ALLELEID=621608;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112939del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:9706348|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:89e9102c-5300-4e17-8c87-3f1d89ad93b9;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1567835775 17 80112938 633225 GG T . . ALLELEID=621609;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112938_80112939delinsT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:525b7d7f-0653-4809-902a-bccc2e639135;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1567835781 17 80112948 372968 C A . . ALLELEID=360286;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80112948C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:1c44650b-cb84-4ebf-98b5-8d7696e6a2f6;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057518106 17 80112948 932896 CAGA C . . ALLELEID=921205;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80112949_80112951del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:10e16111-a4ca-4f6d-9251-2d3539039820;GENEINFO=GAA:2548;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=1030961946 17 80113027 984800 G A . . ALLELEID=972900;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80113027G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:79cd37cc-4450-4d1c-a569-1b774f68b80e;GENEINFO=GAA:2548;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2039280842 17 80113237 423932 TC T . . ALLELEID=410296;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80113238del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:85b16715-d707-4bdf-b668-afbb2ad54177;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064796706 17 80113311 556718 CTG C . . ALLELEID=548429;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80113313_80113314del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555601780 17 80113315 188904 TC T . . ALLELEID=187017;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80113317del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:c637441b-831d-496a-96a9-8f0d31ac7051;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204549 17 80113333 550277 C CG . . ALLELEID=549189;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80113338dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555601802 17 80113333 932900 CG C . . ALLELEID=921206;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80113338del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:5e6ad559-c512-4405-946a-5a91b953e1f9;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555601802 17 80113344 932897 GTGGCCCGGCCCC TGCGACGTGG . . ALLELEID=921207;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80113344_80113356delinsTGCGACGTGG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:5f9e96fe-23c3-4bfa-9c08-2fdfd561f47f;GENEINFO=GAA:2548;MC=SO:0001820|inframe_indel;ORIGIN=1;RS=2039292050 17 80113360 370552 TC T . . ALLELEID=358511;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80113362del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057516581 17 80113365 495665 G T . . ALLELEID=487782;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80113365G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:33efa29d-6a70-4ac2-92cd-e08412f00686;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555601828 17 80116992 370223 G A . . ALLELEID=358513;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80116992G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:21ce77bb-478f-40a2-852d-0621f1432c0b|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:ed960e3f-0822-43b8-8558-3a361d2331d7;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057516328 17 80117014 370651 T TG . . ALLELEID=358518;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80117020dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:98932015-e95d-4925-a090-4b5dc70cf48a|Invitae:4946397|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:449da1e5-c230-4287-9b50-169d8d509dbf;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=777275355 17 80117014 370639 TG T . . ALLELEID=358517;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80117020del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=777275355 17 80117015 280063 G A . . ALLELEID=265034;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80117015G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:d862735d-a0a7-4915-bb07-1954405ec682|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:6b1d795d-e095-4a45-947e-c3f543da6b19;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=752921215 17 80117016 370904 G A . . ALLELEID=358515;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80117016G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:5c68e3d2-339c-44d0-bd91-5793560ee9d7|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:366c8658-533a-41f8-add3-34e7313f2735;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1800312 17 80117016 265160 G C . . AF_ESP=0.00031;AF_TGP=0.00040;ALLELEID=260196;CLNDISDB=MONDO:MONDO:0002412,MedGen:C0017919,Orphanet:ORPHA79201,SNOMED_CT:29633007|MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease|Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80117016G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:236361|UniProtKB_(protein):P10253#VAR_004311|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:119791|Broad_Institute_Rare_Disease_Group,_Broad_Institute:dc771a6b-9796-4938-aa6d-74a2c6553a58;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1800312 17 80117020 370268 G T . . ALLELEID=358516;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80117020G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:f329994e-9f5d-4121-8d8c-dc92a28f8082;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057516363 17 80117047 429727 C T . . ALLELEID=422208;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80117047C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:224d9d16-4871-4ebc-b18a-c06d9fdc1cec|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:b0971d5d-fc3b-4e12-bca3-0beb81e86282;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=200483245 17 80117059 370993 G AT . . ALLELEID=358519;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80117059delinsAT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057516924 17 80117076 555341 CT C . . ALLELEID=548815;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80117078del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Invitae:4946408;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555602692 17 80117606 92476 G A . . AF_ESP=0.73320;AF_TGP=0.71186;ALLELEID=98385;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80117606G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:21242|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:69ccf2de-d1f6-4cf9-b273-379884a992c0|UniProtKB_(protein):P10253#VAR_004313;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1126690 17 80117634 558571 C CA . . ALLELEID=549194;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80117635dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555602860 17 80117651 649354 G T . . ALLELEID=646906;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80117651G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:9f7236b9-e0fe-4a9f-938a-7b069c5034c4;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=886043882 17 80117652 1327500 AG A . . ALLELEID=1318073;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80117653del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1 17 80117675 552368 C T . . ALLELEID=548817;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80117675C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:d1d938e4-80ad-43b8-8248-df989788eb58;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1344266804 17 80117714 92477 G A . . AF_ESP=0.05438;AF_EXAC=0.06040;AF_TGP=0.10184;ALLELEID=98386;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80117714G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:b7701534-9880-4bd5-8371-0ca3b2250692|UniProtKB_(protein):P10253#VAR_004314|Illumina_Laboratory_Services,Illumina:85530;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1800314 17 80118209 286229 CCA C . . ALLELEID=270466;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80118210CA[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:57e08dd1-a8d8-451f-81c4-f2ea4f52061f|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:77174bc5-987b-4b3a-94f0-868d75cd5e60|Invitae:1779241;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=5;RS=886043343 17 80118223 92479 C T . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=98388;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80118223C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:044f7823-3980-446c-97fd-236867eecdaf|Broad_Institute_Rare_Disease_Group,_Broad_Institute:ae5da183-9381-4134-a48c-cb6c0262d3f0;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=369532274 17 80118253 92480 AC A . . ALLELEID=98389;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80118255del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:920fdeb8-1a6d-4690-9228-3a1ee0b51922|HGMD:CD112141;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398123173 17 80118264 92481 G A . . AF_ESP=0.60480;AF_TGP=0.50939;ALLELEID=98390;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80118264G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:2e930570-5d81-4285-b750-2131309706a5|Illumina_Laboratory_Services,Illumina:21257;GENEINFO=GAA:2548;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1042397 17 80118271 4034 C T . . AF_EXAC=0.00021;AF_TGP=0.00100;ALLELEID=19073;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80118271C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:a3c8f1b4-9ee3-407e-ad71-69579b560b0c|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:776f5950-2479-4a1e-8e9a-23242b1a7f2c|OMIM_Allelic_Variant:606800.0015;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=9;RS=121907943 17 80118319 189009 C T . . AF_EXAC=0.00001;ALLELEID=187018;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80118319C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:86e9d9c6-29f3-4e4a-b47d-4d300bbeba41|Broad_Institute_Rare_Disease_Group,_Broad_Institute:8b80ac90-bb61-457f-b9cf-61c81f4aa2e4;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=780321415 17 80118327 550478 C CT . . ALLELEID=548455;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80118328dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555603131 17 80118359 188924 T A . . ALLELEID=187019;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80118359T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:3d13b22b-83b1-4c4e-a592-c6c26397aa0a;GENEINFO=GAA:2548;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=786204561 17 80118660 597005 TCG T . . ALLELEID=588066;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80118661_80118662del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555603219 17 80118668 578595 G T . . AF_EXAC=0.00002;ALLELEID=571734;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80118668G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:9da33e64-8021-4519-9027-8f483f382ac6|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:454d1ec5-7d41-447a-9045-ece71807477e;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=765718882 17 80118710 370241 C T . . ALLELEID=358522;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80118710C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:758c50e3-1f35-4df3-8818-b0d9703e7699;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057516341 17 80118746 456415 C T . . ALLELEID=468575;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80118746C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:79716d83-e86f-4a37-a00f-f82600210e4c;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555603264 17 80118786 92482 C T . . AF_ESP=0.04706;AF_EXAC=0.02202;AF_TGP=0.05431;ALLELEID=98391;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNHGVS=NC_000017.11:g.80118786C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P10253#VAR_004317|ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:0dace307-d73d-4361-89ee-42f551fed0d7|Illumina_Laboratory_Services,Illumina:85537;GENEINFO=GAA:2548;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1800315 17 80118807 556975 C A . . ALLELEID=548464;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80118807C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:eeafbabc-e9e9-4c50-95db-07daf90716e6;GENEINFO=GAA:2548;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1555603318 17 80118807 574052 C T . . ALLELEID=569884;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80118807C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:9ae04e36-00c5-4381-a275-93d835852475;GENEINFO=GAA:2548;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1555603318 17 80119283 371481 CTG C . . ALLELEID=358523;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202;CLNDN=Glycogen_storage_disease,_type_II|not_provided;CLNHGVS=NC_000017.11:g.80119285GT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4946477|Broad_Institute_Rare_Disease_Group,_Broad_Institute:301017be-b854-495a-b886-a7edf1e123c5;GENEINFO=GAA:2548;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=763359208 17 80119325 552839 G A . . ALLELEID=549202;CLNDISDB=MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002;CLNDN=Glycogen_storage_disease,_type_II;CLNHGVS=NC_000017.11:g.80119325G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Lysosomal_Storage_Disorder_Variant_Curation_Expert_Panel,_ClinGen:746102e4-b69e-4e7a-8931-484efff4cdf9;GENEINFO=GAA:2548;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555603436 18 55228229 207545 ATC A . . ALLELEID=203497;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|not_provided;CLNHGVS=NC_000018.10:g.55228231_55228232del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:004948b4-2b3d-4155-b306-f675069f74cf;GENEINFO=TCF4:6925;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=796053429 18 55228275 212379 C CG . . ALLELEID=208455;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;CLNDN=Pitt-Hopkins_syndrome;CLNHGVS=NC_000018.10:g.55228277dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:3fcdc732-4030-4866-83d7-9757bb69e914;GENEINFO=TCF4:6925;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=797046035 18 55228323 524012 TTC T . . ALLELEID=514744;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|not_provided;CLNHGVS=NC_000018.10:g.55228325_55228326del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:26b8a776-38ab-4a02-83a4-04a72ddf41ce;GENEINFO=TCF4:6925;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555708227 18 55228900 393171 A G . . ALLELEID=379059;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|not_provided;CLNHGVS=NC_000018.10:g.55228900A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:5d0fcac9-7b04-4d3f-92d8-91250132dcb7;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057524821 18 55228987 7371 C T . . ALLELEID=22410;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|not_provided;CLNHGVS=NC_000018.10:g.55228987C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602272.0002|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:23eb4bab-14dd-4fbb-aebc-7c755b2976ea;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909121 18 55228988 7370 G A . . ALLELEID=22409;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MeSH:D030342,MedGen:C0950123|MedGen:CN239858|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|Inborn_genetic_diseases|Severe_intellectual_deficiency|not_provided;CLNHGVS=NC_000018.10:g.55228988G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:b4b4e028-4434-4362-a57e-8a50ad94182f|OMIM_Allelic_Variant:602272.0001;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=33;RS=121909120 18 55228993 93542 C T . . ALLELEID=99447;CLNDISDB=Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN517202;CLNDN=Microcephaly|Pitt-Hopkins_syndrome|not_provided;CLNHGVS=NC_000018.10:g.55228993C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM085734|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:TCF4-A4|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:b545bd8e-c8f6-4437-a1d0-ce19966d9ce7;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=33;RS=121909123 18 55228999 381549 C T . . ALLELEID=375991;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000018.10:g.55228999C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:b79ddda3-bf1e-4cee-8b49-6cc1423ac1a7;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057521070 18 55234548 690393 C A . . ALLELEID=678075;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896;CLNDN=Pitt-Hopkins_syndrome;CLNHGVS=NC_000018.10:g.55234548C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:0a189478-9ece-44c0-87b9-f803923296b4;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1599570613 18 55254564 574403 C A . . AF_TGP=0.00020;ALLELEID=572666;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:C2711754|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|History_of_neurodevelopmental_disorder|not_provided;CLNHGVS=NC_000018.10:g.55254564C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:10d8e8a7-ab23-4642-8e12-8f34edafb761;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=9;RS=186508321 18 55257375 93540 C T . . ALLELEID=99445;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|not_provided;CLNHGVS=NC_000018.10:g.55257375C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:0318c444-bec7-4c3c-b7be-61b4e0c8ba2a;GENEINFO=TCF4:6925;MC=SO:0001587|nonsense;ORIGIN=1;RS=398123560 18 55261466 160092 C T . . ALLELEID=169445;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|not_provided;CLNHGVS=NC_000018.10:g.55261466C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:919996d2-6306-4345-9cff-1b4b6bd7694d;GENEINFO=TCF4:6925;MC=SO:0001819|synonymous_variant;ORIGIN=33;RS=587784469 18 55261512 160091 G A . . AF_ESP=0.00069;AF_EXAC=0.00064;AF_TGP=0.00020;ALLELEID=169446;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000018.10:g.55261512G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1342002|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:644b4eae-91ea-4cc2-ae5a-abc981bf920f;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147445499 18 55275649 432062 G C . . ALLELEID=426274;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN517202;CLNDN=Pitt-Hopkins_syndrome|not_provided;CLNHGVS=NC_000018.10:g.55275649G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:1c53d5a5-faa3-4994-be9b-d5aef8d0405c;GENEINFO=TCF4:6925;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555796785 18 55275721 327305 G T . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=342039;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:CN169374;CLNDN=Pitt-Hopkins_syndrome|not_specified;CLNHGVS=NC_000018.10:g.55275721G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:635643|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:78cdc311-810b-46b0-84bf-d4d745a07f25;GENEINFO=TCF4:6925;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200800656 18 55461054 167731 T C . . AF_ESP=0.00108;AF_EXAC=0.00066;ALLELEID=177427;CLNDISDB=MONDO:MONDO:0012589,MedGen:C1970431,OMIM:610954,Orphanet:ORPHA2896|MedGen:C2711754|MedGen:CN169374;CLNDN=Pitt-Hopkins_syndrome|History_of_neurodevelopmental_disorder|not_specified;CLNHGVS=NC_000018.10:g.55461054T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:8ab7cf89-4df9-4ee4-ac6a-8b22d634ebb3|Illumina_Laboratory_Services,Illumina:202971;GENEINFO=TCF4:6925|TCF4-AS1:105372127;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143244149 19 4090590 46223 G A . . AF_ESP=0.00016;AF_EXAC=0.00005;ALLELEID=55387;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000019.10:g.4090590G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ccf6cba7-1870-484b-aeae-e6fcd0cace13;GENEINFO=MAP2K2:5605;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=377675706 19 4090607 40846 G A . . AF_ESP=0.00055;AF_EXAC=0.00097;ALLELEID=49316;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4090607G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:4dda494b-f286-41e8-b20f-481268ec7d54;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=144850779 19 4090614 279960 G A . . AF_EXAC=0.00010;AF_TGP=0.00020;ALLELEID=265075;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4090614G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:32490451-6514-4213-8812-6ac300cb461e;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=17;RS=117945277 19 4090639 40843 G A . . AF_ESP=0.00172;AF_EXAC=0.00125;AF_TGP=0.00080;ALLELEID=49313;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4090639G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:a8067cbf-1dd7-4aab-bdb7-dfb3edfdaedf;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=17;RS=144383241 19 4090661 50938 G A . . AF_ESP=0.00031;AF_EXAC=0.00037;AF_TGP=0.00060;ALLELEID=65599;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000019.10:g.4090661G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b23e5835-5f83-4a46-b686-0e354d53e944;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=146618055 19 4090689 40842 C T . . AF_EXAC=0.00000;ALLELEID=49312;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4090689C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:58e61181-b2bb-4f50-9d9a-4c506757fc9d;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880514 19 4090714 46228 A G . . AF_ESP=0.00078;AF_EXAC=0.00042;AF_TGP=0.00100;ALLELEID=55393;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4090714A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:02ac4895-4755-4b08-a354-b128d2bb4e61;GENEINFO=MAP2K2:5605;MC=SO:0001627|intron_variant;ORIGIN=1;RS=369681843 19 4094471 261928 C T . . AF_ESP=0.00046;AF_EXAC=0.00055;AF_TGP=0.00060;ALLELEID=257127;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000019.10:g.4094471C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:6ce143a5-0894-4639-94d0-072a2ffe2774;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=140896887 19 4095414 46226 G A . . AF_EXAC=0.00149;AF_TGP=0.00100;ALLELEID=55391;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000019.10:g.4095414G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ce8d4a0e-fe41-460b-91e2-0b5c99377b0a;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=192389729 19 4099197 40834 G A . . AF_EXAC=0.00004;ALLELEID=49304;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4099197G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:246061da-c54d-4473-bf35-633ebf160104;GENEINFO=MAP2K2:5605;MC=SO:0001627|intron_variant;ORIGIN=1;RS=763424788 19 4099227 40832 G A . . AF_EXAC=0.00107;AF_TGP=0.00240;ALLELEID=49302;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:ORPHA217569|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Hypertrophic_cardiomyopathy|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4099227G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:40ceccb2-5456-4905-8d02-1878c6fe945f;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200371894 19 4099273 448950 C A . . AF_TGP=0.00020;ALLELEID=442539;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000019.10:g.4099273C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:76be5ede-4c76-4fed-a94a-188c6bcea2f1;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=185999703 19 4099274 40827 G A . . AF_ESP=0.00277;AF_EXAC=0.00322;AF_TGP=0.00080;ALLELEID=49297;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4099274G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:3a3c6e6a-a7bb-47bf-afb2-aacf5127c6fd|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:165119;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11539506 19 4099276 40826 G A . . AF_ESP=0.00077;AF_EXAC=0.00029;AF_TGP=0.00040;ALLELEID=49296;CLNDISDB=MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Noonan_syndrome|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4099276G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:413325d3-6867-4b66-a6a6-655f337675bc;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142307980 19 4099278 569590 C T . . ALLELEID=570803;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000019.10:g.4099278C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1332074575 19 4099295 138161 C T . . AF_EXAC=0.00018;ALLELEID=141864;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4099295C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:13f158e3-3e4e-42f5-8828-d2509a51af7d;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=587781027 19 4099297 40825 G A . . AF_ESP=0.00069;AF_EXAC=0.00028;AF_TGP=0.00040;ALLELEID=49295;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4099297G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:83c490e2-5683-4fc1-b3be-2fa89e92f868;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145934142 19 4099302 40824 T C . . AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=49294;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4099302T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:905a415a-6df7-4dab-b492-c7ae4a886f9f;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=539555837 19 4099307 378108 G A . . ALLELEID=377687;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4099307G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:241fca61-876f-4b2a-bc64-30fd49bd7ee2;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201726622 19 4099314 177876 G C . . AF_ESP=0.00008;ALLELEID=176028;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4099314G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368064728 19 4099336 46242 C T . . AF_ESP=0.00023;ALLELEID=55407;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000019.10:g.4099336C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:89d53e74-33f3-465b-abde-d4f656802fed;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138873805 19 4101032 40818 C A . . ALLELEID=49288;CLNDISDB=MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:ORPHA500|MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4101032C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:c77c7f8b-de11-4d2a-b1e3-d7190a41ba9f;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=9;RS=730880511 19 4101032 543999 C T . . AF_EXAC=0.00000;ALLELEID=533045;CLNDISDB=MONDO:MONDO:0020297,MedGen:CN260604,Orphanet:ORPHA98733|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Noonan_syndrome_and_Noonan-related_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4101032C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:9f74ed62-a0c3-40e1-b0b2-7aa680c29fe2;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880511 19 4101034 138159 C T . . AF_EXAC=0.00028;AF_TGP=0.00020;ALLELEID=141862;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4101034C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:76788912-f5e9-4ff4-8343-c7b0c152c0b2;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201287884 19 4101064 40816 G T . . AF_ESP=0.41794;AF_EXAC=0.54717;AF_TGP=0.43331;ALLELEID=49286;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4101064G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:f9d2ab1b-971b-4536-826d-99d4f2dd7426|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:43783;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=10250 19 4101105 40813 C T . . ALLELEID=49283;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4101105C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:93491eab-4df5-480a-a62b-7022611f18ee;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504382 19 4101121 40811 G A . . AF_ESP=0.00031;AF_EXAC=0.00038;AF_TGP=0.00040;ALLELEID=49281;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4101121G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:a290ee11-587b-4c61-861c-80b328f3af80;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148291450 19 4101223 40808 C T . . AF_ESP=0.00254;AF_EXAC=0.00220;AF_TGP=0.00020;ALLELEID=49278;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4101223C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:882d53d6-99d2-4e81-810c-f4daf709b813;GENEINFO=MAP2K2:5605;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201435249 19 4101263 138158 C T . . AF_ESP=0.00046;AF_TGP=0.00040;ALLELEID=141861;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000019.10:g.4101263C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:fe93cde5-6835-4a9c-b892-408f4f18d37c;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141402203 19 4101274 180905 G A . . AF_ESP=0.00008;AF_EXAC=0.00030;ALLELEID=179825;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4101274G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:87032436-5de0-42c5-bbd4-68bd737592cc;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370799450 19 4102379 46239 G A . . AF_ESP=0.00008;AF_EXAC=0.00047;ALLELEID=55404;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Rasopathy|not_specified;CLNHGVS=NC_000019.10:g.4102379G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:5a6be788-3cc6-4e54-b10f-96366d0767d5;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150833333 19 4102406 40802 G A . . AF_ESP=0.00085;AF_EXAC=0.00074;AF_TGP=0.00020;ALLELEID=49272;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4102406G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ab66208c-6c46-46b0-9c92-4872421693de;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139404261 19 4102451 46237 G A . . AF_ESP=0.14276;AF_EXAC=0.23147;AF_TGP=0.11122;ALLELEID=55402;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4102451G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b79aa141-9bf2-4854-99cb-72cca42926e8|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:43802;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17851657 19 4110539 46235 G A . . AF_ESP=0.00008;AF_EXAC=0.00037;AF_TGP=0.00020;ALLELEID=55400;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4110539G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:dc9fdbbf-4e28-41d1-96de-532d635a2b43;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369925884 19 4110554 40793 C G . . AF_ESP=0.04867;AF_EXAC=0.01432;AF_TGP=0.04772;ALLELEID=49263;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4110554C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:95133|ClinGen_RASopathy_Variant_Curation_Expert_Panel:bd530659-0ddb-40c4-bec5-738830eaca7f;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=10424722 19 4110558 177868 T C . . ALLELEID=176031;CLNDISDB=MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:ORPHA648,SNOMED_CT:205824006|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardio-facio-cutaneous_syndrome|Noonan_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4110558T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:06d3c00a-69eb-4612-b456-062e6ac0a274;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504370 19 4110559 8274 A G . . ALLELEID=23313;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Cardio-facio-cutaneous_syndrome|Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4110559A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P36507#VAR_069783|ClinGen_RASopathy_Variant_Curation_Expert_Panel:b513b1fc-147c-4877-bb0a-38f55e252576|OMIM_Allelic_Variant:601263.0003;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121434499 19 4110576 8275 G T . . ALLELEID=23314;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Cardio-facio-cutaneous_syndrome|not_provided;CLNHGVS=NC_000019.10:g.4110576G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:307f4b6c-ef49-48bd-98e2-5cf382642800|UniProtKB_(protein):P36507#VAR_069782|OMIM_Allelic_Variant:601263.0004;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607230 19 4117411 177969 G C . . AF_ESP=0.00115;AF_EXAC=0.00021;AF_TGP=0.00060;ALLELEID=176032;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4117411G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:df47805e-3c96-49ac-ab9d-045364018616;GENEINFO=MAP2K2:5605;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199612401 19 4117431 40787 G T . . AF_TGP=0.00080;ALLELEID=49257;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4117431G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:e1e02e53-1c53-4e7b-bc2f-0007f57eb7ef;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=200918323 19 4117441 40786 G A . . AF_ESP=0.00023;AF_EXAC=0.00004;ALLELEID=49256;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374|MedGen:CN517202;CLNDN=Rasopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.4117441G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:2ae26f96-8b07-456f-9375-37c36e0c6d97;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202220799 19 4117482 378913 C T . . AF_EXAC=0.00008;AF_TGP=0.00040;ALLELEID=377711;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4117482C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:63dda72c-31c5-4e8f-b694-d44b4e9c8d51;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=543217722 19 4117497 448952 G A . . AF_EXAC=0.00017;AF_TGP=0.00020;ALLELEID=442540;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000019.10:g.4117497G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:191bbcd7-df10-4543-9569-ef96cf4c255f;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=561400866 19 4117530 40770 G A . . AF_ESP=0.06312;AF_EXAC=0.06190;AF_TGP=0.05831;ALLELEID=49240;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN169374;CLNDN=Cardiofaciocutaneous_syndrome_4|Rasopathy|not_specified;CLNHGVS=NC_000019.10:g.4117530G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:66864|ClinGen_RASopathy_Variant_Curation_Expert_Panel:cf89340c-b64c-46a6-aef4-094850f57f25;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=8157 19 4117552 8272 A C . . ALLELEID=23311;CLNDISDB=MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN517202;CLNDN=Cardiofaciocutaneous_syndrome_4|Cardio-facio-cutaneous_syndrome|not_provided;CLNHGVS=NC_000019.10:g.4117552A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:07aecf91-9cf2-48c7-b101-b21e809f57a4|OMIM_Allelic_Variant:601263.0001|UniProtKB_(protein):P36507#VAR_035095;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121434497 19 4117553 8273 A C . . ALLELEID=23312;CLNDISDB=Human_Phenotype_Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human_Phenotype_Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779,SNOMED_CT:93655004|Human_Phenotype_Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,SNOMED_CT:716659002|MONDO:MONDO:0014114,MedGen:C3809007,OMIM:615280|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:ORPHA1340,SNOMED_CT:403770008;CLNDN=Pancreatic_adenocarcinoma|Malignant_melanoma_of_skin|Adenocarcinoma_of_stomach|Squamous_cell_carcinoma_of_the_head_and_neck|Cardiofaciocutaneous_syndrome_4|Cardio-facio-cutaneous_syndrome;CLNHGVS=NC_000019.10:g.4117553A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:ac054f0f-9da0-455d-8a0f-343d2f4ad540|UniProtKB_(protein):P36507#VAR_069781|OMIM_Allelic_Variant:601263.0002;GENEINFO=MAP2K2:5605;MC=SO:0001583|missense_variant;ORIGIN=3;RS=121434498 19 4117581 448953 G A . . AF_EXAC=0.00010;AF_TGP=0.00040;ALLELEID=442541;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391|MedGen:CN517202;CLNDN=Rasopathy|not_provided;CLNHGVS=NC_000019.10:g.4117581G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:39270fbb-deac-4d6c-b2ab-d39741932713;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201526172 19 4123831 448954 G A . . AF_EXAC=0.00016;ALLELEID=442542;CLNDISDB=MONDO:MONDO:0021060,MedGen:CN166718,Orphanet:ORPHA536391;CLNDN=Rasopathy;CLNHGVS=NC_000019.10:g.4123831G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_RASopathy_Variant_Curation_Expert_Panel:b38274d0-0a58-4c74-896c-135e9c481ac6;GENEINFO=MAP2K2:5605;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=767770776 19 11089549 250968 A T . . ALLELEID=245334;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11089549A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_000445;GENEINFO=LDLR:3949|LDLR-AS1:115271120;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=879254382 19 11089606 161272 G A . . AF_ESP=0.00069;AF_EXAC=0.00105;AF_TGP=0.00060;ALLELEID=171195;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11089606G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0094|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_754|Fundacion_Hipercolesterolemia_Familiar:LDLR_0094|Cardiovascular_Biomarker_Research_Laboratory,Mayo_Clinic:rs147509697|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p.G20R|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#006|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9117051|Illumina_Laboratory_Services,Illumina:452840|LDLR_@_LOVD:LDLR_000013;GENEINFO=LDLR:3949|LDLR-AS1:115271120;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=5;RS=147509697 19 11100294 251034 G A . . ALLELEID=245388;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11100294G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Iberoamerican_FH_Network:LDLR_0161|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_19|LDLR_@_LOVD:LDLR_000383|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_0161;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1 19 11100340 375775 C G . . ALLELEID=362667;CLNDISDB=MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11100340C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_22;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376207800 19 11100340 161273 C T . . ALLELEID=171196;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11100340C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_21|Fundacion_Hipercolesterolemia_Familiar:LDLR_0175|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_0175|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0175|LDLR_@_LOVD:LDLR_001030|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p.T62M;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1 19 11102705 161289 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=171197;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_provided;CLNHGVS=NC_000019.10:g.11102705C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:70c9e683-2d22-4b7f-a83d-08076052b9db|UniProtKB_(protein):P01130#VAR_005307|LDLR_@_LOVD:LDLR_001629;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=370860696 19 11102732 3685 T G . . AF_EXAC=0.00004;ALLELEID=18724;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:ORPHA391665|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Homozygous_familial_hypercholesterolemia|not_provided;CLNHGVS=NC_000019.10:g.11102732T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:606945.0003|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_35|Robarts_Research_Institute,Western_University:11614|UniProtKB_(protein):P01130#VAR_005308|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-21030801703|LDLR_@_LOVD:LDLR_001671|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_64|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#013;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=5;RS=121908025 19 11102734 251100 G A . . ALLELEID=245442;CLNDISDB=MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11102734G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_001248|Fundacion_Hipercolesterolemia_Familiar:LDLR_0248|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0248;GENEINFO=LDLR:3949;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=199570811 19 11102741 251106 G T . . ALLELEID=245449;CLNDISDB=MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11102741G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#014|LDLR_@_LOVD:LDLR_001675|UniProtKB_(protein):P01130#VAR_005312;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=749038326 19 11102769 161269 C G . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=171198;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia;CLNHGVS=NC_000019.10:g.11102769C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0273|LDLR_@_LOVD:LDLR_001685;GENEINFO=LDLR:3949;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=377271627 19 11102787 3736 G A . . ALLELEID=18775;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:ORPHA391665|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Homozygous_familial_hypercholesterolemia|not_provided;CLNHGVS=NC_000019.10:g.11102787G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Robarts_Research_Institute,Western_University:877|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0294|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-13090200526|Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:LDLR_c.313+1G>A|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_47|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2838887|Iberoamerican_FH_Network:LDLR_0294|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_451|Fundacion_Hipercolesterolemia_Familiar:LDLR_0294|LDLR_@_LOVD:LDLR_000045|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_0294|OMIM_Allelic_Variant:606945.0054;GENEINFO=LDLR:3949;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1 19 11105249 251162 C T . . AF_EXAC=0.00003;ALLELEID=245500;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_provided;CLNHGVS=NC_000019.10:g.11105249C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:f092719d-e8a9-4414-9727-8f41932b138c|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_58|LDLR_@_LOVD:LDLR_001036|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-10030801731;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=774723292 19 11105250 225402 G A . . AF_ESP=0.00008;AF_EXAC=0.00018;AF_TGP=0.00020;ALLELEID=227401;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_provided;CLNHGVS=NC_000019.10:g.11105250G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:948572|LDLR_@_LOVD:LDLR_000052|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_59|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0337;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201102461 19 11105599 251400 C G . . ALLELEID=245738;CLNDISDB=MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11105599C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_001820|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0649|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_139;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=121908035 19 11106588 251422 G T . . ALLELEID=245758;CLNDISDB=MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11106588G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_001040;GENEINFO=LDLR:3949;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=768563000 19 11106627 161261 C T . . ALLELEID=171200;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11106627C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cardiovascular_Biomarker_Research_Laboratory,Mayo_Clinic:rs150673992|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-07090701580|UniProtKB_(protein):P01130#VAR_013952|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p._R253W|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_0692|LDLR_@_LOVD:LDLR_000111;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 19 11106668 161287 T A . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=171201;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:ORPHA391665|MedGen:C0020443|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Homozygous_familial_hypercholesterolemia|Hypercholesterolaemia|not_provided;CLNHGVS=NC_000019.10:g.11106668T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Robarts_Research_Institute,Western_University:12602|Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:LDLR_p.Asp266Glu|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#052|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0719|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-19101103113|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p._D266E|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_153|LDLR_@_LOVD:LDLR_000117|UniProtKB_(protein):P01130#VAR_005347;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=5;RS=139043155 19 11106676 161279 G A . . ALLELEID=171202;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_provided;CLNHGVS=NC_000019.10:g.11106676G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:633870|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_154|Iberoamerican_FH_Network:LDLR_0724|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0724|Fundacion_Hipercolesterolemia_Familiar:LDLR_0724|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-26110701564|Cardiovascular_Biomarker_Research_Laboratory,Mayo_Clinic:rs143992984|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p.G269D|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_0724|LDLR_@_LOVD:LDLR_000504;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 19 11107436 161268 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=171204;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:ORPHA391665|MedGen:C0020443;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Homozygous_familial_hypercholesterolemia|Hypercholesterolaemia;CLNHGVS=NC_000019.10:g.11107436G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Fundacion_Hipercolesterolemia_Familiar:LDLR_0765|UniProtKB_(protein):P01130#VAR_007983|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0765|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-23031303447|LDLR_@_LOVD:LDLR_000509|Robarts_Research_Institute,Western_University:4696|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_161|Iberoamerican_FH_Network:LDLR_0765;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368657165 19 11107481 161281 C T . . AF_ESP=0.00015;AF_EXAC=0.00004;ALLELEID=171205;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11107481C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_000512;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=151207122 19 11107484 251517 G T . . ALLELEID=245850;CLNDISDB=MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11107484G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_000132|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-23110000230|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_165;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908030 19 11110678 161282 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=171206;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia;CLNHGVS=NC_000019.10:g.11110678G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_000623|Broad_Institute_Rare_Disease_Group,_Broad_Institute:91329e56-b741-4c98-8180-1b3a249f83b9|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_184;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373869746 19 11110681 161263 G A . . ALLELEID=171207;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11110681G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9117055|Iberoamerican_FH_Network:LDLR_0883|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-10120200563|Illumina_Laboratory_Services,Illumina:574926|LDLR_@_LOVD:LDLR_000640|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_0883|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_186|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p._G324S;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1 19 11110735 251603 G T . . ALLELEID=245927;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11110735G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#076|LDLR_@_LOVD:LDLR_001220;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139361635 19 11110766 36450 G A . . AF_EXAC=0.00001;ALLELEID=45113;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_provided;CLNHGVS=NC_000019.10:g.11110766G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#079|LDLR_@_LOVD:LDLR_001339|Iberoamerican_FH_Network:LDLR_0937|UniProtKB_(protein):P01130#VAR_005369|Fundacion_Hipercolesterolemia_Familiar:LDLR_0937|Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:LDLR_p.Cys352Tyr;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922566 19 11110781 226709 G C . . ALLELEID=230980;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN169374|MedGen:CN235283;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_specified|none_provided;CLNHGVS=NC_000019.10:g.11110781G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_0948|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_0948|Illumina_Laboratory_Services,Illumina:22533|LDLR_@_LOVD:LDLR_000478;GENEINFO=LDLR:3949;MC=SO:0001627|intron_variant;ORIGIN=1 19 11111624 183138 G A . . ALLELEID=181250;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_specified|none_provided|not_provided;CLNHGVS=NC_000019.10:g.11111624G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1039|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#192|UniProtKB_(protein):P01130#VAR_024519|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_1039|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p._A391T|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_223|Robarts_Research_Institute,Western_University:5030|LDLR_@_LOVD:LDLR_001369|Illumina_Laboratory_Services,Illumina:52883;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1 19 11111644 251706 G A . . ALLELEID=246029;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11111644G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_000881|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-16091504189|Fundacion_Hipercolesterolemia_Familiar:LDLR_1053|Iberoamerican_FH_Network:LDLR_1053;GENEINFO=LDLR:3949;MC=SO:0001627|intron_variant;ORIGIN=1;RS=879254821 19 11113307 3746 C A . . ALLELEID=18785;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11113307C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1093|LDLR_@_LOVD:LDLR_000813|OMIM_Allelic_Variant:606945.0065|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9117046;GENEINFO=LDLR:3949;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=121908043 19 11113308 228798 G A . . AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=230981;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN169374;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_specified;CLNHGVS=NC_000019.10:g.11113308G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_000650|Broad_Institute_Rare_Disease_Group,_Broad_Institute:15cc271d-ca89-4c49-b1a2-c6995d406a7a|UniProtKB_(protein):P01130#VAR_013954|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-26110701597|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_233|Fundacion_Hipercolesterolemia_Familiar:LDLR_1095;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=552422789 19 11113313 36453 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=45116;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:ORPHA391665|MedGen:C0020443|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Homozygous_familial_hypercholesterolemia|Hypercholesterolaemia|not_provided;CLNHGVS=NC_000019.10:g.11113313G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P01130#VAR_005378|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#096|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-30111604694|LDLR_@_LOVD:LDLR_001379|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1306|Fundacion_Hipercolesterolemia_Familiar:LDLR_1097|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_234|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1097;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137943601 19 11113329 161276 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=171212;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_provided;CLNHGVS=NC_000019.10:g.11113329C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_236|Cardiovascular_Biomarker_Research_Laboratory,Mayo_Clinic:rs368562025|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#187|LDLR_@_LOVD:LDLR_000967;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368562025 19 11113413 251783 T C . . ALLELEID=246097;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11113413T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_000186|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1151;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=879254862 19 11113414 456650 C T . . AF_ESP=0.00138;AF_EXAC=0.00035;AF_TGP=0.00240;ALLELEID=468439;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11113414C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Robarts_Research_Institute,Western_University:GL15701b;GENEINFO=LDLR:3949;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=5933 19 11113752 183120 C T . . AF_EXAC=0.00002;ALLELEID=181262;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11113752C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-19101604477|UniProtKB_(protein):P01130#VAR_005396|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2855188|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_282|LDLR_@_LOVD:LDLR_000076|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p.P526S;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730882106 19 11116928 161271 G A . . ALLELEID=171217;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:ORPHA391665|MedGen:C0020443|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Homozygous_familial_hypercholesterolemia|Hypercholesterolaemia|not_provided;CLNHGVS=NC_000019.10:g.11116928G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Iberoamerican_FH_Network:LDLR_1476|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1476|Fundacion_Hipercolesterolemia_Familiar:LDLR_1476|LDLR_@_LOVD:LDLR_000237|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#130|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_1476|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_327|UniProtKB_(protein):P01130#VAR_005403|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p.G592E|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2847848|Robarts_Research_Institute,Western_University:11827|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_174|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-11101604481;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=5 19 11116936 161290 C T . . ALLELEID=171218;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_provided;CLNHGVS=NC_000019.10:g.11116936C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P01130#VAR_072856|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_1482|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-10021704019|Fundacion_Hipercolesterolemia_Familiar:LDLR_1482|Iberoamerican_FH_Network:LDLR_1482|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_799|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_329|LDLR_@_LOVD:LDLR_000239|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9117059;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=33 19 11116969 161264 G T . . AF_ESP=0.00023;ALLELEID=171219;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_provided;CLNHGVS=NC_000019.10:g.11116969G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_332|LDLR_@_LOVD:LDLR_000566|Robarts_Research_Institute,Western_University:12184|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1506|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p.A606S;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=72658865 19 11120101 252083 T C . . AF_EXAC=0.00001;ALLELEID=246378;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11120101T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Robarts_Research_Institute,Western_University:1989b|LDLR_@_LOVD:LDLR_000570|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_341;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=747134711 19 11120211 252135 C G . . ALLELEID=246431;CLNDISDB=MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11120211C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_000419|Fundacion_Hipercolesterolemia_Familiar:LDLR_1620|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-05110902326;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=879255090 19 11120212 252136 C A . . AF_EXAC=0.00002;ALLELEID=246432;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_provided;CLNHGVS=NC_000019.10:g.11120212C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1305|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_356|LDLR_@_LOVD:LDLR_000267|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1621|Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:LDLR_p.His656Asn|Fundacion_Hipercolesterolemia_Familiar:LDLR_1621;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762815611 19 11120382 3689 G A . . AF_EXAC=0.00001;ALLELEID=18728;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_provided;CLNHGVS=NC_000019.10:g.11120382G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Fundacion_Hipercolesterolemia_Familiar:LDLR_1654|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-23091504174|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9117005|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_365|Robarts_Research_Institute,Western_University:6270|LDLR_@_LOVD:LDLR_000274|OMIM_Allelic_Variant:606945.0015|UniProtKB_(protein):P01130#VAR_005407;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=28942083 19 11120425 252188 C G . . ALLELEID=246483;CLNDISDB=MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11120425C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_001019;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=121908031 19 11120478 252219 C T . . ALLELEID=246513;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MONDO:MONDO:0018328,MedGen:C0342881,Orphanet:ORPHA391665|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Homozygous_familial_hypercholesterolemia|not_provided;CLNHGVS=NC_000019.10:g.11120478C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_378|LDLR_@_LOVD:LDLR_001600|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#152|UniProtKB_(protein):P01130#VAR_013955|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-05100701527|Fundacion_Hipercolesterolemia_Familiar:LDLR_1720|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_1720|Robarts_Research_Institute,Western_University:5939;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1 19 11120483 183130 G A . . AF_ESP=0.00008;AF_EXAC=0.00012;ALLELEID=181272;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_provided;CLNHGVS=NC_000019.10:g.11120483G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Fundacion_Hipercolesterolemia_Familiar:LDLR_1724|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p.G701S|LDLR_@_LOVD:LDLR_001078|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#153;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=5;RS=368838866 19 11120523 3744 G A . . AF_ESP=0.00008;ALLELEID=18783;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_provided;CLNHGVS=NC_000019.10:g.11120523G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Fundacion_Hipercolesterolemia_Familiar:LDLR_1741|OMIM_Allelic_Variant:606945.0063|Robarts_Research_Institute,Western_University:4805b|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_384|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1741|LDLR_@_LOVD:LDLR_000282|Illumina_Laboratory_Services,Illumina:252583;GENEINFO=LDLR:3949;MC=SO:0001575|splice_donor_variant,SO:0001627|intron_variant;ORIGIN=1;RS=145787161 19 11120527 36460 G A . . ALLELEID=45123;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11120527G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Robarts_Research_Institute,Western_University:4210|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_385|Fundacion_Hipercolesterolemia_Familiar:LDLR_1747|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_1747|Illumina_Laboratory_Services,Illumina:106168|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1747|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:9729|LDLR_@_LOVD:LDLR_000283;GENEINFO=LDLR:3949;MC=SO:0001627|intron_variant;ORIGIN=1 19 11128089 252304 A G . . AF_EXAC=0.00001;ALLELEID=246591;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11128089A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Fundacion_Hipercolesterolemia_Familiar:LDLR_1839|Iberoamerican_FH_Network:LDLR_1839|LDLR_@_LOVD:LDLR_001640;GENEINFO=LDLR:3949;MC=SO:0001627|intron_variant;ORIGIN=1;RS=758493597 19 11128093 413774 C T . . AF_EXAC=0.00020;ALLELEID=403598;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11128093C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LDLR:3949;MC=SO:0001627|intron_variant;ORIGIN=1;RS=747170426 19 11129602 36462 G A . . ALLELEID=45125;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:C0020443|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|Hypercholesterolaemia|not_specified|not_provided;CLNHGVS=NC_000019.10:g.11129602G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:128004|UniProtKB_(protein):P01130#VAR_005418|Dept._of_Genetics_and_Pharmacogenomics,_Merck_Research_Labs:p.V827I|Laboratory_of_Genetics_and_Molecular_Cardiology,_University_of_São_Paulo:LDLR_1891|Robarts_Research_Institute,Western_University:11619|Molecular_Genetics_Laboratory,Centre_for_Cardiovascular_Surgery_and_Transplantation:Czech#164|Centre_de_Génétique_Moléculaire_et_Chromosomique,_Unité_de_génétique_de_l'Obésité_et_des_Dyslipidémies,APHP,_GH_Hôpitaux_Universitaires_Pitié-Salpêtrière_/_Charles-Foix:GHPS_LDLR_408|Quest_Diagnostics_Nichols_Institute_San_Juan_Capistrano:2476222|U4M_-_Lille_University_&_CHRU_Lille,_Université_de_Lille_-_CHRU_de_Lille:U4M-08070902184|LDLR_@_LOVD:LDLR_001657;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=5;RS=137853964 19 11129654 3734 G A . . ALLELEID=18773;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11129654G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:606945.0052|LDLR_@_LOVD:LDLR_001663|UniProtKB_(protein):P01130#VAR_005420;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121908037 19 11129669 252350 C A . . ALLELEID=246635;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1;CLNHGVS=NC_000019.10:g.11129669C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=LDLR_@_LOVD:LDLR_001665;GENEINFO=LDLR:3949;MC=SO:0001587|nonsense;ORIGIN=1;RS=377437226 19 11131308 252360 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=246645;CLNDISDB=MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890,SNOMED_CT:398036000|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,SNOMED_CT:397915002|MedGen:CN517202;CLNDN=Familial_hypercholesterolemia|Familial_hypercholesterolemia_1|not_provided;CLNHGVS=NC_000019.10:g.11131308G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:731331|Cardiovascular_Research_Group,Instituto_Nacional_de_Saúde_Doutor_Ricardo_Jorge:LDLR_1913|LDLR_@_LOVD:LDLR_001670;GENEINFO=LDLR:3949;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202049029 19 15879621 225969 C T . . AF_ESP=0.22543;AF_EXAC=0.27258;AF_TGP=0.23682;ALLELEID=227800;CLNDISDB=MedGen:CN236457|MedGen:CN236549|MedGen:CN517202;CLNDN=acenocoumarol_response_-_Dosage|warfarin_response_-_Dosage|not_provided;CLNHGVS=NC_000019.10:g.15879621C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:1184661207|PharmGKB:655385400|UniProtKB_(protein):P78329#VAR_013119|PharmGKB:1184661207PA450921|PharmGKB:1449269278PA451906|PharmGKB_Clinical_Annotation:1184661194|PharmGKB_Clinical_Annotation:655385400|PharmGKB:1184661194|PharmGKB:1184661207|PharmGKB:1184661194PA452632|PharmGKB:655385400PA451906;GENEINFO=CYP4F2:8529;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2108622 19 18156039 468317 G A . . AF_ESP=0.00312;AF_EXAC=0.00367;AF_TGP=0.00080;ALLELEID=468564;CLNDISDB=MONDO:MONDO:0011313,MedGen:C4012727,OMIM:603387|MONDO:MONDO:0100283,MedGen:CN300503|MedGen:CN169374|MedGen:CN517202;CLNDN=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1|Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes|not_specified|not_provided;CLNHGVS=NC_000019.10:g.18156039G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3R2:5296;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1;RS=201370957 19 18156199 1296987 C T . . ALLELEID=1286777;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633;CLNDN=Brain_malformation;CLNHGVS=NC_000019.10:g.18156199C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3R2:5296;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=1 19 18156208 767212 A G . . AF_EXAC=0.00025;ALLELEID=778520;CLNDISDB=MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MedGen:CN517202;CLNDN=Brain_malformation|not_provided;CLNHGVS=NC_000019.10:g.18156208A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3R2:5296;MC=SO:0001627|intron_variant;ORIGIN=1;RS=774883359 19 18162974 39808 G A . . ALLELEID=48407;CLNDISDB=Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:ORPHA60040|MONDO:MONDO:0011313,MedGen:C4012727,OMIM:603387|MONDO:MONDO:0016054,MedGen:C0266449,Orphanet:ORPHA199633|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Intellectual_disability|Megalencephaly-capillary_malformation-polymicrogyria_syndrome|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1|Brain_malformation|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000019.10:g.18162974G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O00459#VAR_069262|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_657|OMIM_Allelic_Variant:603157.0001;GENEINFO=PIK3R2:5296;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant;ORIGIN=33;RS=587776934 19 18167199 779809 G A . . AF_EXAC=0.00003;ALLELEID=716298;CLNDISDB=MONDO:MONDO:0011313,MedGen:C4012727,OMIM:603387|MONDO:MONDO:0100283,MedGen:CN300503;CLNDN=Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1|Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes;CLNHGVS=NC_000019.10:g.18167199G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIK3R2:5296;MC=SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=774532039 19 38433867 133129 T G . . ALLELEID=136876;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38433867T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058560;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922744 19 38440747 133146 CGAT C . . ALLELEID=136893;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38440750_38440752del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:351325ce-27b8-4d6a-82d2-536e3213e439;GENEINFO=RYR1:6261;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=193922745 19 38440796 55831 A G . . ALLELEID=70489;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542,SNOMED_CT:764957003|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|King_Denborough_syndrome|not_provided;CLNHGVS=NC_000019.10:g.38440796A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:180901.0038;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922746 19 38440802 132995 T C . . ALLELEID=136743;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38440802T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445400910PA449461|PharmGKB:1445400910PA451341|UniProtKB_(protein):P21817#VAR_005589|PharmGKB:1445400910PA450434|PharmGKB:1445400910PA450106|PharmGKB:1445400910PA449845|PharmGKB:1445400910PA451522|PharmGKB:1445400910PA164749136;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922747 19 38440818 1210306 G C . . ALLELEID=1200298;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38440818G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:7a71b785-a5fc-49a2-9813-2068b6cf4806;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38440829 133045 C T . . ALLELEID=136793;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38440829C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Conflicting_interpretations_of_pathogenicity,_drug_response;CLNSIGCONF=Likely_pathogenic(2),Pathogenic(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449747643PA449461|PharmGKB:1449747643PA451522|PharmGKB:1449747643PA450434|UniProtKB_(protein):P21817#VAR_045695|PharmGKB:1449747643PA450106|PharmGKB:1449747643PA451341|PharmGKB:1449747643PA164749136|PharmGKB:1449747643PA449845;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922748 19 38440830 133046 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=136794;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C4016368|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|Central_core_disease,_autosomal_recessive|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38440830G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139161723 19 38440851 133099 C A . . ALLELEID=136846;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38440851C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM085674|Illumina_Laboratory_Services,Illumina:1383577;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922749 19 38442361 65932 G A . . AF_EXAC=0.00001;ALLELEID=76840;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38442361G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192160 19 38442361 1214005 G T . . ALLELEID=1203998;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38442361G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38442373 590492 T C . . ALLELEID=581417;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38442373T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=995399438 19 38442395 65993 C A . . ALLELEID=76901;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38442395C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192113 19 38442434 808527 C T . . AF_TGP=0.00020;ALLELEID=797800;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38442434C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:226df241-f334-450c-9d29-c864bb0567b6;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=186983396 19 38443790 544412 G A . . AF_ESP=0.00015;ALLELEID=532935;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38443790G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142474192 19 38444179 448182 C A . . ALLELEID=442197;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN169374;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_specified;CLNHGVS=NC_000019.10:g.38444179C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555763641 19 38444187 133132 C A . . ALLELEID=136879;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38444187C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922750 19 38444191 133133 G A . . ALLELEID=136880;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38444191G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922751 19 38444203 133136 A G . . ALLELEID=136883;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38444203A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045696;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922752 19 38444211 12967 C T . . ALLELEID=28006;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN235283|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|none_provided|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38444211C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705759PA450106|PharmGKB:1183705759PA451522|OMIM_Allelic_Variant:180901.0004|PharmGKB:1183705759PA450434|PharmGKB:1183705759PA449845|PharmGKB:1183705759PA449461|PharmGKB:1183705759PA164749136|PharmGKB:1183705759PA451341|UniProtKB_(protein):P21817#VAR_005590;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192161 19 38444212 635269 G A . . AF_EXAC=0.00001;ALLELEID=623101;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38444212G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38444212 133137 G T . . ALLELEID=136884;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38444212G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045697;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922753 19 38444217 133139 G A . . ALLELEID=136886;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38444217G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045698;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922754 19 38444220 133140 G A . . ALLELEID=136887;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38444220G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045699;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922755 19 38444221 133141 A G . . ALLELEID=136888;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38444221A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922756 19 38444252 590556 G T . . ALLELEID=581423;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38444252G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:fedfe534-72a0-46f1-91f6-b80223df5109;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1568436081 19 38444253 133147 C T . . AF_EXAC=0.00001;ALLELEID=136894;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38444253C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045700;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922757 19 38444257 1210301 A C . . ALLELEID=1200299;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38444257A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:9a254804-1ba2-420a-869d-8b9079629f3c;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38444257 1330371 A G . . ALLELEID=1321051;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38444257A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38444671 478249 G A . . AF_EXAC=0.00002;ALLELEID=468654;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38444671G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771058055 19 38446481 167614 C T . . AF_EXAC=0.00011;ALLELEID=177297;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38446481C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:52083721-82d7-4413-a279-27c7e0f626b3;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=727504129 19 38446492 133160 G A . . ALLELEID=136907;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38446492G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922759 19 38446517 133170 T A . . ALLELEID=136917;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38446517T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058561;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112596687 19 38446520 133171 A T . . ALLELEID=136918;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38446520A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045703;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922760 19 38448500 889434 C T . . AF_EXAC=0.00002;ALLELEID=880425;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38448500C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:4a4a0fee-eba0-4815-944f-6eaa3ac6761a|Illumina_Laboratory_Services,Illumina:286972;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752652072 19 38448501 133242 G T . . ALLELEID=136987;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38448501G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922761 19 38448673 133245 C T . . AF_EXAC=0.00003;ALLELEID=136990;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38448673C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045704;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922762 19 38448712 12969 G A . . ALLELEID=28008;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38448712G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_005592|OMIM_Allelic_Variant:180901.0006;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918592 19 38448715 1214000 G A . . ALLELEID=1203993;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38448715G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38448791 133003 G A . . ALLELEID=136751;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38448791G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113332073 19 38448791 133004 G T . . ALLELEID=136752;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38448791G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058562;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113332073 19 38451785 1210303 C A . . ALLELEID=1200300;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38451785C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:0689a438-6bd7-4446-b8b4-5baa444a1ab9;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38451842 1214004 C A . . ALLELEID=1203997;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38451842C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38451843 133030 G A . . ALLELEID=136778;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38451843G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045706;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922766 19 38451843 983140 G T . . ALLELEID=971127;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38451843G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:1d77bee5-555f-410b-be53-da845cb9937e|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_1068;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922766 19 38451850 12968 C G . . AF_EXAC=0.00001;ALLELEID=28007;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|not_provided;CLNHGVS=NC_000019.10:g.38451850C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1447676001PA449461|PharmGKB:1447676001PA449845|PharmGKB:1447676001PA164749136|PharmGKB:1447676001PA450434|PharmGKB:1447676001PA450106|PharmGKB:1447676001PA451522|UniProtKB_(protein):P21817#VAR_005593|OMIM_Allelic_Variant:180901.0005|PharmGKB:1447676001PA451341;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192116 19 38452985 1018682 C T . . ALLELEID=1013681;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38452985C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1376393998 19 38452996 133063 G T . . ALLELEID=136811;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38452996G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:7bc6956c-0b52-4c5c-a1dd-b070462867ea;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922767 19 38455247 133076 A G . . AF_ESP=0.00015;AF_EXAC=0.00047;AF_TGP=0.00100;ALLELEID=136823;CLNDISDB=Human_Phenotype_Ontology:HP:0002047,Human_Phenotype_Ontology:HP:0004896,MedGen:CN209346|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia|Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38455247A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_032911|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18497_606|Illumina_Laboratory_Services,Illumina:444241;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147723844 19 38455253 1210307 C G . . ALLELEID=1200301;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38455253C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:1d07bbe4-4015-4e93-9223-2c7e196eaf30;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38455254 567662 T C . . ALLELEID=572380;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38455254T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:daab8352-5851-43f3-8e01-ac9dceb334b2;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1008860336 19 38455269 1050940 G A . . ALLELEID=1051230;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38455269G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:12896a38-6b21-42fb-ab57-5c0f7b14526e;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38455347 590482 T C . . ALLELEID=581442;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38455347T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_18685_605|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:1c2d2620-94da-449a-84a6-04711b5944d3;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1195513704 19 38455359 12993 A C . . ALLELEID=28032;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38455359A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705773PA451341|UniProtKB_(protein):P21817#VAR_005595|PharmGKB:1183705773PA450434|PharmGKB:1183705773PA449461|PharmGKB:1183705773PA450106|PharmGKB:1183705773PA451522|OMIM_Allelic_Variant:180901.0031|PharmGKB:1183705773PA164749136|PharmGKB:1183705773PA449845;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192162 19 38455359 133100 A G . . ALLELEID=136847;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38455359A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192162 19 38455463 133101 G A . . AF_ESP=0.00015;AF_EXAC=0.00007;ALLELEID=136848;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542,SNOMED_CT:764957003|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|King_Denborough_syndrome|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38455463G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058563|Illumina_Laboratory_Services,Illumina:738239|Broad_Institute_Rare_Disease_Group,_Broad_Institute:41b1673e-3ae7-4384-80a0-110b873bcfaf;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111888148 19 38455471 291315 C A . . ALLELEID=275550;CLNDISDB=Human_Phenotype_Ontology:HP:0002047,Human_Phenotype_Ontology:HP:0004896,MedGen:CN209346|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia|Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38455471C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922768 19 38455471 133102 C T . . ALLELEID=136849;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38455471C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045708;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922768 19 38455472 133103 G A . . AF_ESP=0.00054;AF_EXAC=0.00010;ALLELEID=136850;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38455472G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_008971|HGMD:CM992212;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144336148 19 38455489 133104 T C . . ALLELEID=136851;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38455489T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:1f83c96d-f6ca-4543-aeaa-420f85809094;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922769 19 38455489 1210317 T G . . ALLELEID=1200302;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38455489T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:55124b23-8091-424d-b744-d0820c6f87f3;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38455504 1210298 G T . . ALLELEID=1200303;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38455504G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:b1f7b8ce-e9f5-4411-a4fb-ad1fd2f2ce6f;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38455528 133106 C T . . ALLELEID=136853;CLNDISDB=.|.|.|.|.|.|.|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38455528C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1447953029PA449461|PharmGKB:1447953029PA450434|PharmGKB:1447953029PA451522|PharmGKB:1447953029PA449845|UniProtKB_(protein):P21817#VAR_005596|PharmGKB:1447953029PA451341|PharmGKB:1447953029PA164749136|PharmGKB:1447953029PA450106;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922770 19 38457539 1210299 G C . . ALLELEID=1200304;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38457539G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:ceabf681-53b5-48bd-b1a7-05f2cf146e6d;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38457545 12964 C T . . AF_ESP=0.00008;AF_EXAC=0.00008;AF_TGP=0.00020;ALLELEID=28003;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MeSH:D030342,MedGen:C0950123|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|Inborn_genetic_diseases|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38457545C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705698PA449845|PharmGKB:1183705698PA449461|PharmGKB:1183705698PA450106|UniProtKB_(protein):P21817#VAR_005597|PharmGKB:1183705698PA450434|PharmGKB:1183705698PA164749136|PharmGKB:1183705698PA451522|PharmGKB:1183705698PA451341|OMIM_Allelic_Variant:180901.0001;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=9;RS=118192172 19 38457546 635268 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=623103;CLNDISDB=.|.|.|.|.|.|.;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity;CLNHGVS=NC_000019.10:g.38457546G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1450416365|PharmGKB:1445400222PA450106|PharmGKB:1450416370|PharmGKB:1450416366|PharmGKB:1450416369|PharmGKB:1445400222PA451341|PharmGKB:1445400222PA449461|PharmGKB:1445400222PA450434|PharmGKB:1445400222PA449845|PharmGKB:1445400222PA451522|PharmGKB:1450416368|PharmGKB:1445400222PA164749136|PharmGKB:1450416367|PharmGKB:1450416371;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922772 19 38457546 133108 G T . . ALLELEID=136855;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38457546G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM971326|UniProtKB_(protein):P21817#VAR_005598;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922772 19 38458175 1214003 G C . . ALLELEID=1203996;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38458175G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38458247 159840 G A . . AF_ESP=0.00031;AF_EXAC=0.00059;ALLELEID=169548;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0019952,MedGen:C0270960,Orphanet:ORPHA97245|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38458247G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138874610 19 38460461 478213 C T . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=470638;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38460461C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376149732 19 38460551 133117 C T . . ALLELEID=136864;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38460551C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922775 19 38463499 212100 G A . . AF_ESP=0.00015;AF_TGP=0.00040;ALLELEID=208586;CLNDISDB=Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MedGen:C0026848|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MedGen:C2674259|MedGen:CN221567|MedGen:CN239331|MedGen:CN517202;CLNDN=Myopathy|Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|Myopathy,_RYR1-associated|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38463499G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:504424;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=5;RS=370634440 19 38464649 161363 G A . . AF_ESP=0.00131;AF_EXAC=0.00099;AF_TGP=0.00120;ALLELEID=171229;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN221545|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|Malignant_hyperthermia_and_exertional_rhabdomyolosis|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38464649G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:119741;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148623597 19 38466144 590508 G A . . AF_EXAC=0.00002;ALLELEID=581467;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38466144G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=778241277 19 38466216 133122 G A . . AF_EXAC=0.00011;AF_TGP=0.00020;ALLELEID=136869;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38466216G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:735575;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=9;RS=180714609 19 38466315 374974 G A . . AF_ESP=0.00023;AF_EXAC=0.00011;ALLELEID=361886;CLNDISDB=.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=RYR1-Related_Disorder|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38466315G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:6c04bf1f-d36d-4c6d-8041-bd3dc8b980e5;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=9;RS=141942845 19 38466347 133124 C T . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=136871;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38466347C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058565|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:50890b71-c3f1-492f-ab25-8d8a2c43ec20;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111272095 19 38466386 1210310 G A . . ALLELEID=1200305;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38466386G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:70cc29b5-c8e6-4d4b-a2b2-e80f4e70a124;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38466386 1210300 G C . . ALLELEID=1200306;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38466386G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:5aabda59-648d-42ef-877b-d386790f1b95;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38466392 978526 G A . . ALLELEID=574947;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38466392G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:82550fd9-f4ad-4b8c-a326-6bea2b91afa4;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1968107192 19 38469002 133126 C T . . AF_EXAC=0.00002;ALLELEID=136873;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN169374|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_specified|not_provided;CLNHGVS=NC_000019.10:g.38469002C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:abf74aba-c231-4dfb-a51e-57b67730d6cf;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922776 19 38469111 590517 C T . . AF_EXAC=0.00009;AF_TGP=0.00040;ALLELEID=581476;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38469111C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:6b49f6d1-db4e-4bf3-a111-4ad59d331d55;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=549201486 19 38469404 1210309 A C . . ALLELEID=1200307;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38469404A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:c8c7e594-139a-4a0f-8a9d-852ece152ea5;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38469415 1004840 G A . . ALLELEID=998522;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38469415G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=936513262 19 38473635 93265 A G . . AF_ESP=0.03703;AF_EXAC=0.02215;AF_TGP=0.05411;ALLELEID=99172;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38473635A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:119784|UniProtKB_(protein):P21817#VAR_032913|HGMD:CM117516;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34694816 19 38473666 159846 C G . . AF_ESP=0.00369;AF_EXAC=0.00283;AF_TGP=0.00839;ALLELEID=169554;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38473666C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058566|Illumina_Laboratory_Services,Illumina:119794;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112105381 19 38475335 93269 A G . . AF_ESP=0.00431;AF_EXAC=0.00507;AF_TGP=0.00160;ALLELEID=99176;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38475335A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:62940|HGMD:CM104332|UniProtKB_(protein):P21817#VAR_068513;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=137933390 19 38477816 161371 A G . . AF_ESP=0.00008;ALLELEID=171232;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN221590;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_equivocal_with_halotane;CLNHGVS=NC_000019.10:g.38477816A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_071732;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145573319 19 38483293 159851 A G . . AF_ESP=0.00093;AF_EXAC=0.00134;AF_TGP=0.00220;ALLELEID=169559;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38483293A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_071733;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146429605 19 38483329 329032 C T . . AF_EXAC=0.00031;ALLELEID=349757;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MONDO:MONDO:0018948,MedGen:C0270962,Orphanet:ORPHA598|MedGen:C2674259|MedGen:CN239331|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia_susceptibility|Multiminicore_Disease|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38483329C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:803126;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754476250 19 38483345 329033 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=348723;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:C2674259;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber;CLNHGVS=NC_000019.10:g.38483345C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:677323;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=151029675 19 38483357 133135 C T . . ALLELEID=136882;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38483357C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:ae024a80-d985-4fb9-82aa-f99431513c1f;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922777 19 38485654 224380 C T . . AF_ESP=0.00169;AF_EXAC=0.00211;AF_TGP=0.00220;ALLELEID=226117;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN234658|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|Malignant_hypothermia|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38485654C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:283284;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144157950 19 38485679 1213825 T C . . ALLELEID=1203818;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38485679T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38485688 1214007 A G . . ALLELEID=1204000;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38485688A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38485691 161364 G A . . AF_ESP=0.00092;AF_EXAC=0.00153;AF_TGP=0.00040;ALLELEID=171234;CLNDISDB=Human_Phenotype_Ontology:HP:0002047,Human_Phenotype_Ontology:HP:0004896,MedGen:CN209346|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia|Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38485691G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_068514|Illumina_Laboratory_Services,Illumina:268837;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146504767 19 38485787 544383 A G . . ALLELEID=532988;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38485787A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754785770 19 38485841 133145 T G . . ALLELEID=136892;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38485841T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:3a8e2af6-f693-4c2e-9a6a-41c6df0ff527;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922782 19 38485972 224382 C T . . AF_EXAC=0.00111;AF_TGP=0.00180;ALLELEID=226119;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38485972C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:159862;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=192863857 19 38485996 1009683 T C . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=998529;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38485996T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372958050 19 38486015 133149 C T . . AF_ESP=0.01669;AF_EXAC=0.01957;AF_TGP=0.01697;ALLELEID=136896;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN234658|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|Malignant_hypothermia|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38486015C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_005599|Illumina_Laboratory_Services,Illumina:75433;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34934920 19 38486095 1213826 A G . . ALLELEID=1203819;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38486095A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38486096 133150 T A . . ALLELEID=136897;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38486096T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:dbad8391-4c03-45b7-8aee-da787d0f6e29;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922783 19 38490151 1213827 C T . . ALLELEID=1203820;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38490151C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38490642 1210319 A C . . ALLELEID=1200308;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38490642A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:0961c348-b4dd-4c71-a3d0-43b13d3b06ba;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38492540 93279 G T . . AF_ESP=0.05144;AF_EXAC=0.06937;AF_TGP=0.05491;ALLELEID=99186;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38492540G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_005600|Illumina_Laboratory_Services,Illumina:53053;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35364374 19 38494379 544517 T A . . AF_EXAC=0.00018;ALLELEID=533355;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38494379T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:878552;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746818096 19 38494381 1210308 G C . . ALLELEID=1200309;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38494381G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:330f9155-d147-4ea4-abdf-749a86408a5c;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38494426 133156 G C . . AF_EXAC=0.00001;ALLELEID=136903;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38494426G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045712|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:c1d3d2f0-ba78-48ff-9e69-10c8fe672584;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922788 19 38494454 1213820 G A . . ALLELEID=1203813;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38494454G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38494464 133157 C G . . ALLELEID=136904;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38494464C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:5a4b773d-c1da-4b68-8673-530ad93f2fee|UniProtKB_(protein):P21817#VAR_045713;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=117886618 19 38494465 133158 G A . . ALLELEID=136905;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38494465G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:59fd676f-2f1c-4ef6-a782-c4b6bfcabada;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922789 19 38494555 161374 G A . . AF_ESP=0.00023;AF_TGP=0.00020;ALLELEID=171236;CLNDISDB=.|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN221545|MedGen:CN239331|MedGen:CN517202;CLNDN=RYR1-Related_Disorder|Minicore_myopathy_with_external_ophthalmoplegia|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_and_exertional_rhabdomyolosis|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38494555G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:894366;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143398211 19 38494564 12973 C T . . ALLELEID=28012;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38494564C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_005601|PharmGKB:1183705797PA451341|PharmGKB:1183705797PA449845|PharmGKB:1183705797PA450106|OMIM_Allelic_Variant:180901.0010|PharmGKB:1183705797PA449461|PharmGKB:1183705797PA164749136|PharmGKB:1183705797PA450434|PharmGKB:1183705797PA451522;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192175 19 38494565 12974 G A . . ALLELEID=28013;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38494565G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_005602|OMIM_Allelic_Variant:180901.0011|PharmGKB:1183705778PA450106|PharmGKB:1183705778PA451341|PharmGKB:1183705778PA164749136|PharmGKB:1183705778PA449461|PharmGKB:1183705778PA451522|PharmGKB:1183705778PA449845|PharmGKB:1183705778PA450434;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192163 19 38494565 133159 G C . . ALLELEID=136906;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38494565G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:63c8f3a1-4af0-4c9f-89c2-561a9a5354c2|UniProtKB_(protein):P21817#VAR_008972;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192163 19 38494565 590571 G T . . ALLELEID=581517;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38494565G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192163 19 38494579 12976 G A . . ALLELEID=28015;CLNDISDB=.|.|.|.|.|.|.|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38494579G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705802PA450106|UniProtKB_(protein):P21817#VAR_005603|PharmGKB:1183705802PA451522|PharmGKB:1183705802PA449461|OMIM_Allelic_Variant:180901.0013|PharmGKB:1183705802PA449845|PharmGKB:1183705802PA164749136|PharmGKB:1183705802PA450434|PharmGKB:1183705802PA451341;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=17;RS=118192176 19 38494621 133161 A T . . ALLELEID=136908;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38494621A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:ebf973e0-786d-4b3f-b590-0c65122a7ba2;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922790 19 38494625 1214008 G A . . ALLELEID=1204001;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38494625G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38496265 133162 C T . . ALLELEID=136909;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38496265C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:f4d4fbb8-d3aa-4fa7-89ee-fb15113ba150;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922791 19 38496278 133163 C G . . ALLELEID=136910;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38496278C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_068515;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=141646642 19 38496294 133165 G T . . ALLELEID=136912;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38496294G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922792 19 38496301 133166 T A . . ALLELEID=136913;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38496301T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:8fafbaf8-1d47-40e9-81b2-f0d0318c007e;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922793 19 38496306 133168 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=136915;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38496306G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:978b1488-e088-4475-bd85-4696d6d7e27b|UniProtKB_(protein):P21817#VAR_045714;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922795 19 38496415 224387 C T . . AF_EXAC=0.00018;AF_TGP=0.00020;ALLELEID=226124;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38496415C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199870223 19 38496416 478260 G A . . AF_TGP=0.00020;ALLELEID=468693;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38496416G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=537994744 19 38496455 1065119 G A . . ALLELEID=1053425;CLNDISDB=Human_Phenotype_Ontology:HP:0002047,Human_Phenotype_Ontology:HP:0004896,MedGen:CN209346|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia|Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38496455G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:f876df90-b637-45ce-a382-d9971b5a967f;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38496487 568713 C T . . AF_EXAC=0.00007;ALLELEID=570715;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38496487C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763352221 19 38496488 590574 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=581520;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38496488G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140152019 19 38496502 590575 C T . . ALLELEID=581521;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38496502C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:e623adc9-101f-498d-b780-852933f9c7b7;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=917523269 19 38496901 133172 G A . . AF_EXAC=0.00003;ALLELEID=136919;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38496901G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_1062|UniProtKB_(protein):P21817#VAR_045715|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:4160c49d-048c-4b1d-99c6-441b368e2ca5;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922797 19 38496910 65968 A C . . ALLELEID=76876;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38496910A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:52d49539-290d-4ab0-9f3f-f16b286ae640;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192121 19 38499177 133173 A G . . AF_ESP=0.00085;AF_EXAC=0.00039;AF_TGP=0.00020;ALLELEID=136920;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499177A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:301788|UniProtKB_(protein):P21817#VAR_058567;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34390345 19 38499223 133174 G A . . ALLELEID=136921;CLNDISDB=.|.|.|.|.|.|.|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499223G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445400887PA449461|PharmGKB:1445400887PA450434|PharmGKB:1445400887PA449845|UniProtKB_(protein):P21817#VAR_058568|PharmGKB:1445400887PA450106|PharmGKB:1445400887PA451341|PharmGKB:1445400887PA164749136|PharmGKB:1445400887PA451522;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112563513 19 38499234 1213821 T C . . ALLELEID=1203814;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38499234T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38499241 133175 A G . . AF_ESP=0.00100;AF_EXAC=0.00107;AF_TGP=0.00080;ALLELEID=136922;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia_susceptibility|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499241A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:230618|UniProtKB_(protein):P21817#VAR_045716|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_1066|HGMD:CM042107;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147213895 19 38499639 133178 G C . . ALLELEID=136925;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38499639G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045717;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922798 19 38499642 1210320 C A . . ALLELEID=1200310;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38499642C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:5e6972e2-2301-4737-9c53-050b48ca3ef7;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38499643 133179 G A . . AF_EXAC=0.00001;ALLELEID=136926;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38499643G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045718|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:5d96e526-4b1b-4a3e-add6-6ceeae298c46;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922799 19 38499644 133180 TGGA T . . ALLELEID=136927;CLNDISDB=.|.|.|.|.|.|.|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Minicore_myopathy_with_external_ophthalmoplegia|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499646GAG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=OMIM_Allelic_Variant:180901.0017|Invitae:589272|PharmGKB:1449309937PA449461|PharmGKB:1449309937PA451522|PharmGKB:1449309937PA450106|PharmGKB:1449309937PA164749136|PharmGKB:1449309937PA450434|OMIM_Allelic_Variant:180901.0041|PharmGKB:1449309937PA451341|PharmGKB:1449309937PA449845;GENEINFO=RYR1:6261;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=121918596 19 38499650 133181 A G . . ALLELEID=136928;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38499650A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045720;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922801 19 38499655 133182 G A . . AF_ESP=0.00008;ALLELEID=136929;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499655G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445400232PA449461|PharmGKB:1445400232PA451341|PharmGKB:1445400232PA164749136|PharmGKB:1445400232PA451522|PharmGKB:1445400232PA449845|PharmGKB:1445400232PA450106|PharmGKB:1445400232PA450434|UniProtKB_(protein):P21817#VAR_045721;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922802 19 38499667 590580 G A . . ALLELEID=581526;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38499667G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:759415dd-558d-4b5c-95ec-25430bf5b967;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746971794 19 38499670 133183 C T . . AF_EXAC=0.00003;ALLELEID=136930;CLNDISDB=.|.|.|.|.|.|.|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499670C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445400156PA449845|PharmGKB:1445400156PA164749136|PharmGKB:1445400156PA451341|PharmGKB:1445400156PA451522|PharmGKB:1445400156PA450106|PharmGKB:1445400156PA450434|PharmGKB:1445400156PA449461;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=9;RS=193922803 19 38499680 803553 T A . . ALLELEID=791924;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38499680T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1600820232 19 38499682 449521 C T . . AF_EXAC=0.00001;ALLELEID=446109;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499682C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=769482889 19 38499683 573252 G A . . ALLELEID=572427;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38499683G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1387126664 19 38499691 1214002 G A . . ALLELEID=1203995;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38499691G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38499692 133184 A G . . ALLELEID=136931;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38499692A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922804 19 38499696 478267 C G . . ALLELEID=470699;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38499696C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2228071 19 38499697 133185 T G . . ALLELEID=136932;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38499697T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:96aec15f-3ff5-421d-a24d-7647ca379ce3;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922805 19 38499704 133186 C G . . ALLELEID=136933;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38499704C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922806 19 38499706 133187 G A . . AF_ESP=0.00008;AF_EXAC=0.00004;AF_TGP=0.00020;ALLELEID=136934;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499706G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045723;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146306934 19 38499719 1330355 A G . . ALLELEID=1321035;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38499719A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38499731 133189 G C . . ALLELEID=136936;CLNDISDB=.|.|.|.|.|.|.|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|not_provided;CLNHGVS=NC_000019.10:g.38499731G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1447676077PA450106|PharmGKB:1447676077PA450434|PharmGKB:1447676077PA449461|PharmGKB:1447676077PA449845|PharmGKB:1447676077PA451522|PharmGKB:1447676077PA164749136|PharmGKB:1447676077PA451341;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922807 19 38499806 582065 A G . . ALLELEID=573059;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499806A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=976108591 19 38499817 161379 G A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=171237;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38499817G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058569;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111364296 19 38499975 133193 G A . . ALLELEID=136940;CLNDISDB=.|.|.|.|.|.|.|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499975G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Conflicting_interpretations_of_pathogenicity,_drug_response;CLNSIGCONF=Likely_pathogenic(1),Pathogenic(2),Uncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:1367719|PharmGKB:1447673669PA451341|UniProtKB_(protein):P21817#VAR_045725|PharmGKB:1447673669PA451522|PharmGKB:1447673669PA449845|PharmGKB:1447673669PA450106|PharmGKB:1447673669PA450434|PharmGKB:1447673669PA164749136|PharmGKB:1447673669PA449461;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922809 19 38499984 133194 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=136941;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38499984G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045726;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922810 19 38499984 133195 G T . . ALLELEID=136942;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499984G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922810 19 38499985 1210302 A T . . ALLELEID=1200311;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38499985A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:ae4182ee-ab3b-4c07-b7e2-18de6c295040;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38499993 12970 G A . . AF_EXAC=0.00002;ALLELEID=28009;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499993G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705812PA450434|OMIM_Allelic_Variant:180901.0007|PharmGKB:1183705812PA451522|PharmGKB:1183705812PA450106|PharmGKB:1183705812PA164749136|PharmGKB:1183705812PA451341|PharmGKB:1183705812PA449461|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_115|PharmGKB:1183705812PA449845|Stanford_Center_for_Inherited_Cardiovascular_Disease,_Stanford_University:RYR1_p.Gly2434Arg|UniProtKB_(protein):P21817#VAR_005605;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918593 19 38499997 12966 G A . . ALLELEID=28005;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499997G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445400894PA451522|PharmGKB:1445400894PA449845|PharmGKB:1445400894PA164749136|PharmGKB:1445400894PA450434|PharmGKB:1445400894PA449461|PharmGKB:1445400894PA451341|UniProtKB_(protein):P21817#VAR_005606|OMIM_Allelic_Variant:180901.0003|PharmGKB:1445400894PA450106;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28933396 19 38499997 133196 G T . . ALLELEID=136943;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38499997G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_008974;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28933396 19 38500000 1330372 G A . . ALLELEID=1321052;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38500000G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38500003 133197 C T . . ALLELEID=136944;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38500003C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045727;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922812 19 38500010 133198 G C . . ALLELEID=136945;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38500010G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922813 19 38500636 65979 C T . . ALLELEID=76887;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542,SNOMED_CT:764957003|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|King_Denborough_syndrome|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500636C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045728|PharmGKB:1445400172PA449845|PharmGKB:1445400172PA164749136|PharmGKB:1445400172PA451341|OMIM_Allelic_Variant:180901.0042|PharmGKB:1445400172PA449461|PharmGKB:1445400172PA450106|PharmGKB:1445400172PA451522|PharmGKB:1445400172PA450434;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192124 19 38500637 133201 G A . . ALLELEID=136948;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500637G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922815 19 38500637 1210314 G C . . ALLELEID=1200312;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38500637G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:0696ef53-ca1c-4130-8c3a-ded2439659dd;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38500640 65953 T C . . ALLELEID=76861;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500640T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192123 19 38500642 133202 C T . . AF_EXAC=0.00001;ALLELEID=136949;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500642C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445400247PA450106|PharmGKB:1445400247PA164749136|PharmGKB:1445400247PA451341|UniProtKB_(protein):P21817#VAR_008975|PharmGKB:1445400247PA449461|PharmGKB:1445400247PA449845|PharmGKB:1445400247PA450434|HGMD:CM992215|PharmGKB:1445400247PA451522;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922816 19 38500643 65980 G A . . AF_EXAC=0.00001;ALLELEID=76888;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500643G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445400206PA450434|PharmGKB:1445400206PA450106|PharmGKB:1445400206PA449845|PharmGKB:1445400206PA449461|PharmGKB:1445400206PA451341|PharmGKB:1445400206PA164749136|PharmGKB:1445400206PA451522|UniProtKB_(protein):P21817#VAR_008976;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192122 19 38500654 12971 C T . . ALLELEID=28010;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500654C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705817PA449461|UniProtKB_(protein):P21817#VAR_008977|PharmGKB:1183705817PA451341|OMIM_Allelic_Variant:180901.0008|PharmGKB:1183705817PA449845|PharmGKB:1183705817PA450106|PharmGKB:1183705817PA450434|PharmGKB:1183705817PA164749136|PharmGKB:1183705817PA451522;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28933397 19 38500655 12972 G A . . AF_EXAC=0.00001;ALLELEID=28011;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500655G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705827PA450106|UniProtKB_(protein):P21817#VAR_008978|PharmGKB:1183705827PA451522|PharmGKB:1183705827PA451341|PharmGKB:1183705827PA449845|PharmGKB:1183705827PA449461|OMIM_Allelic_Variant:180901.0009|PharmGKB:1183705827PA450434|HGMD:CM981783|PharmGKB:1183705827PA164749136;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918594 19 38500655 590585 G T . . ALLELEID=581531;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38500655G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918594 19 38500667 329061 C T . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=348743;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN239331;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38500667C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:753994;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=551223467 19 38500863 133204 C T . . AF_EXAC=0.00008;ALLELEID=136951;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500863C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922817 19 38500899 133207 G A . . ALLELEID=136954;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38500899G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic/Likely_pathogenic,_drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1447673778PA450434|PharmGKB:1447673778PA449845|PharmGKB:1447673778PA450106|PharmGKB:1447673778PA449461|PharmGKB:1447673778PA164749136|PharmGKB:1447673778PA451341|PharmGKB:1447673778PA451522;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922818 19 38500904 133208 T C . . ALLELEID=136955;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38500904T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922819 19 38502652 1056224 A G . . ALLELEID=1051259;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38502652A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38502663 93291 C G . . ALLELEID=99198;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38502663C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM063122;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922822 19 38502663 133211 C T . . ALLELEID=136958;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38502663C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922822 19 38502669 1330356 C G . . ALLELEID=1321036;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38502669C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38502670 654130 G A . . AF_EXAC=0.00002;ALLELEID=648014;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38502670G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751180702 19 38502679 133212 C T . . ALLELEID=136959;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38502679C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922824 19 38502708 1330357 T A . . ALLELEID=1321037;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38502708T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38502923 872586 G A . . ALLELEID=860563;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38502923G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=914804033 19 38502923 1330358 G C . . ALLELEID=1321038;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38502923G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38504298 1330359 G A . . ALLELEID=1321039;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38504298G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38504319 133217 C T . . AF_EXAC=0.00001;ALLELEID=28024;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38504319C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045729|OMIM_Allelic_Variant:180901.0023;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922826;CLNDISDBINCL=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDNINCL=Malignant_hyperthermia,_susceptibility_to,_1;CLNSIGINCL=12985:risk_factor 19 38504347 1308515 C T . . ALLELEID=1296137;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38504347C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38504868 133218 G C . . ALLELEID=136964;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38504868G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922827 19 38504869 133219 A G . . ALLELEID=136965;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38504869A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058571;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112196644 19 38504878 133220 G A . . ALLELEID=136966;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38504878G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922828 19 38505061 133221 G A . . AF_EXAC=0.00002;ALLELEID=136967;CLNDISDB=Human_Phenotype_Ontology:HP:0001158,Human_Phenotype_Ontology:HP:0001588,Human_Phenotype_Ontology:HP:0004209,Human_Phenotype_Ontology:HP:0004212,Human_Phenotype_Ontology:HP:0006083,Human_Phenotype_Ontology:HP:0006181,Human_Phenotype_Ontology:HP:0009181,MedGen:C1850049|Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120|Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429,Orphanet:ORPHA1480,SNOMED_CT:30288003|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001680,MONDO:MONDO:0007345,MedGen:C0003492,OMIM:120000,Orphanet:ORPHA1457,SNOMED_CT:7305005|Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658|Human_Phenotype_Ontology:HP:0002780,MedGen:C0264353|Human_Phenotype_Ontology:HP:0004442,MedGen:C0432123|Human_Phenotype_Ontology:HP:0007598,MedGen:C1862095|Human_Phenotype_Ontology:HP:0010296,MONDO:MONDO:0007125,MedGen:C0152415,OMIM:106280,SNOMED_CT:67787004|Human_Phenotype_Ontology:HP:0011318,MedGen:C4021164|Human_Phenotype_Ontology:HP:0012722,MedGen:C0018794,SNOMED_CT:233916004|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN169374|MedGen:CN517202;CLNDN=Clinodactyly_of_the_5th_finger|Generalized_hypotonia|Ventricular_septal_defect|Atrial_septal_defect|Coarctation_of_aorta|Delayed_gross_motor_development|Bronchomalacia|Sagittal_craniosynostosis|Bilateral_single_transverse_palmar_creases|Ankyloglossia|Bicoronal_synostosis|Heart_block|Malignant_hyperthermia_susceptibility|not_specified|not_provided;CLNHGVS=NC_000019.10:g.38505061G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922829 19 38505325 197946 C T . . AF_ESP=0.00092;AF_EXAC=0.00068;ALLELEID=195107;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38505325C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:440422|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:b2a77c48-8743-48ea-ba30-0a6ef95a353d;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147707463 19 38505358 133223 C G . . AF_EXAC=0.00331;AF_TGP=0.00899;ALLELEID=38459;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:C2674259|MedGen:CN169374|MedGen:CN234658|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|Malignant_hypothermia|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38505358C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:725632|OMIM_Allelic_Variant:180901.0023|UniProtKB_(protein):P21817#VAR_045730;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35180584;CLNDISDBINCL=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDNINCL=Malignant_hyperthermia,_susceptibility_to,_1;CLNSIGINCL=12985:risk_factor 19 38505923 133226 C T . . AF_EXAC=0.00002;ALLELEID=136971;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38505923C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922830 19 38505932 1330360 T C . . ALLELEID=1321040;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38505932T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38506361 133230 T A . . ALLELEID=136975;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38506361T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922831 19 38506492 133232 G A . . ALLELEID=136977;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38506492G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_058572;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112772310 19 38506508 1330361 C G . . ALLELEID=1321041;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38506508C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38506865 1330362 C T . . ALLELEID=1321042;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38506865C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38507821 1330363 C T . . ALLELEID=1321043;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38507821C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38511590 544516 G A . . AF_ESP=0.00015;AF_EXAC=0.00020;ALLELEID=532927;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38511590G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:878554;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147303895 19 38512279 1330364 G A . . ALLELEID=1321044;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38512279G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38512321 133240 G A . . AF_EXAC=0.00002;ALLELEID=136985;CLNDISDB=.|.|.|.|.|.|.|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38512321G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449310249PA451341|PharmGKB:1449310249PA450434|PharmGKB:1449310249PA164749136|PharmGKB:1449310249PA449845|PharmGKB:1449310249PA450106|PharmGKB:1449310249PA166131630|PharmGKB:1449310249PA451522|PharmGKB:1449310249PA449461;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922832 19 38512364 329088 C T . . AF_ESP=0.00154;AF_EXAC=0.00052;AF_TGP=0.00200;ALLELEID=348767;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MeSH:D030342,MedGen:C0950123|MedGen:C2674259|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Inborn_genetic_diseases|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38512364C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045731|Illumina_Laboratory_Services,Illumina:576664;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2915960 19 38512367 133241 G A . . ALLELEID=136986;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38512367G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922833 19 38515052 590630 C T . . ALLELEID=581569;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38515052C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001587|nonsense;ORIGIN=1;RS=1171637302 19 38516167 329090 A G . . AF_EXAC=0.00041;ALLELEID=348771;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:C2674259|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia_susceptibility|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38516167A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_1067|Illumina_Laboratory_Services,Illumina:87350;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199738299 19 38516181 1330365 T C . . ALLELEID=1321045;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38516181T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38516184 1010267 G A . . AF_EXAC=0.00005;ALLELEID=998555;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38516184G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=553055844 19 38516208 1330366 G C . . ALLELEID=1321046;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38516208G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38517470 1330367 T C . . ALLELEID=1321047;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38517470T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38517521 1303276 G A . . ALLELEID=1293554;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38517521G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38517523 1330368 T A . . ALLELEID=1321048;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38517523T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38517541 1330369 G A . . ALLELEID=1321049;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38517541G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38519238 132988 G A . . AF_EXAC=0.00002;ALLELEID=136737;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38519238G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:184cd7ed-552f-4ce5-a598-143f35ff1258;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922834 19 38519295 65956 A G . . ALLELEID=76864;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38519295A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:824d3211-edc0-43c2-a2ac-734a25134ae6;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192126 19 38519424 1210305 C A . . ALLELEID=1200313;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38519424C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:baa4af03-30ec-484e-804d-17c71401e60c;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38519432 1210312 A T . . ALLELEID=1200314;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38519432A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:aba7c2ce-7b6b-4049-b9f6-9fbe0da1afda;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38519447 1210304 A G . . ALLELEID=1200315;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38519447A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:b01cb23b-415a-4e8e-a3b1-84e58a51a59e;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38525492 132997 G A . . AF_ESP=0.00185;AF_EXAC=0.00179;AF_TGP=0.00060;ALLELEID=136745;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38525492G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045733;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143987857 19 38527707 132999 G C . . AF_ESP=0.01330;AF_EXAC=0.01494;AF_TGP=0.00679;ALLELEID=136747;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN169374|MedGen:CN234658|MedGen:CN235283|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|not_specified|Malignant_hypothermia|none_provided|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38527707G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM117914|UniProtKB_(protein):P21817#VAR_058575|Illumina_Laboratory_Services,Illumina:85584;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=55876273 19 38527710 1213683 G C . . ALLELEID=1203676;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38527710G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38528372 1213682 G T . . ALLELEID=1203675;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38528372G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38529002 1210315 G C . . ALLELEID=1200316;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38529002G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:8444cfe5-086c-4e65-b33b-a1f68b936d5b;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38529036 133005 G T . . ALLELEID=136753;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38529036G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:3d0a0a11-534c-44ef-b7b8-d9f5eabb6d31;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922838 19 38529042 478157 C T . . ALLELEID=470193;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38529042C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:45d2743e-4422-4491-962f-9b83164d5abb;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555791418 19 38529048 1120229 C T . . ALLELEID=1109125;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38529048C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:e286ba16-c019-4bfe-8781-67f17f2ac495;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38534726 133011 C G . . AF_ESP=0.01184;AF_EXAC=0.03374;AF_TGP=0.03514;ALLELEID=136759;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38534726C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:53125|UniProtKB_(protein):P21817#VAR_032916;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4802584 19 38535197 1120230 G A . . ALLELEID=1109126;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38535197G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:36b78256-f2e5-40c6-87b8-6b42b58a2257;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38535998 133013 G A . . AF_ESP=0.00015;AF_EXAC=0.00005;AF_TGP=0.00020;ALLELEID=136761;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38535998G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:318e7e5b-cf95-435f-83a9-b56cd296a9f4;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140616359 19 38543365 133017 G A . . AF_EXAC=0.00002;ALLELEID=136765;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38543365G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:b2c203e9-2eac-4fd3-901c-031e142f54fc;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148399313 19 38543380 1210318 A T . . ALLELEID=1200317;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38543380A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:f7113544-ba0b-4b3d-8c00-62b6b9fa7c9d;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38543405 133018 T G . . ALLELEID=136766;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38543405T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:bd722673-7b4b-4b28-81b2-60e41600e0d9|UniProtKB_(protein):P21817#VAR_045735;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922840 19 38543566 933345 G A . . ALLELEID=938673;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38543566G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:8c5b11b6-dea1-4d4e-95c3-d33d6fa52396;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1972296024 19 38543816 133025 T C . . ALLELEID=136773;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38543816T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:f12e20b6-f3f3-481e-a426-b7e63cb4c86a;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118204422 19 38543832 133027 G T . . ALLELEID=136775;CLNDISDB=.|.|.|.|.|.|.|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|not_provided;CLNHGVS=NC_000019.10:g.38543832G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449310265PA451522|PharmGKB:1449310265PA449845|PharmGKB:1449310265PA449461|PharmGKB:1449310265PA450434|PharmGKB:1449310265PA166131630|PharmGKB:1449310265PA451341|PharmGKB:1449310265PA164749136|PharmGKB:1449310265PA450106;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922843 19 38546460 1019540 G A . . AF_EXAC=0.00005;ALLELEID=1013716;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38546460G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:39bd4310-b3e1-4eb3-aae0-200dc2832790;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=755088027 19 38546496 1120227 A G . . ALLELEID=1109127;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38546496A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:e0ef9c1f-eda6-47ab-8edf-f4ac4758a00e;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38548253 1210313 A T . . ALLELEID=1200318;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38548253A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:1d37f726-e146-40b3-9863-833bb9740297;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38548259 133032 C T . . AF_ESP=0.00015;AF_EXAC=0.00002;ALLELEID=136780;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38548259C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:6dd6f102-839e-4a0b-bd9c-6f2c126ed15b;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144685735 19 38548287 133033 C A . . ALLELEID=136781;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38548287C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:074e0b35-38ed-4abb-9c49-bff763b4e789;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922844 19 38548380 1029908 C T . . AF_EXAC=0.00002;ALLELEID=1018559;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38548380C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:08b5cc21-a02e-4176-a123-c155d4ca4224;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373406011 19 38561140 1214006 G C . . ALLELEID=1203999;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38561140G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38561185 133036 A T . . ALLELEID=136784;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38561185A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:a547d652-d44e-4011-acc8-60f9bf27cdca;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922848 19 38561213 1210311 C T . . ALLELEID=1200319;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38561213C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:3fe195d2-6cbb-4c5a-bbda-56c5a5e82027;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38561228 654427 A G . . AF_EXAC=0.00006;AF_TGP=0.00020;ALLELEID=648053;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38561228A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:a44cfe6c-ef76-446d-a02b-a1a8d750e63a;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201321695 19 38561236 133037 C A . . AF_EXAC=0.00002;ALLELEID=136785;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38561236C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045736|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:66f62496-ef87-43cc-82e6-b6b8e590ec1a;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922849 19 38561243 133038 T C . . ALLELEID=136786;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38561243T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:eeedcf7b-d797-46a1-9e37-81df633dc12c;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922850 19 38561363 590405 G T . . ALLELEID=581625;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38561363G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:93cd0738-1f6e-45a3-b75f-027b5853c6e7;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1568576165 19 38561383 224402 G A . . AF_ESP=0.00062;AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=226140;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:C2674259|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38561383G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:818678|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:5eef2f00-2525-4773-b066-e0d54f2c8e2a;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=151119428 19 38565023 590413 T G . . ALLELEID=581633;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38565023T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:8ba9d2c9-fde2-4b4f-9e41-3b7b7b79746d;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1568581848 19 38565034 133040 G C . . ALLELEID=136788;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38565034G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045738|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:dceccd7a-e299-418d-ba71-5d141dd81508;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922852 19 38565034 1071064 G T . . ALLELEID=1064712;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38565034G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:84025923-05d7-4124-81a1-e52582f2873d;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38565182 133042 A T . . ALLELEID=136790;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38565182A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:c4ca61f4-ae39-4b34-8ab0-678675c573f7;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922853 19 38565215 159834 C T . . ALLELEID=169579;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MeSH:D030342,MedGen:C0950123|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Inborn_genetic_diseases|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38565215C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:716111;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587784372 19 38565218 133043 C T . . ALLELEID=136791;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0018948,MedGen:C0270962,Orphanet:ORPHA598|MeSH:D030342,MedGen:C0950123|MedGen:CN221567|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|Multiminicore_Disease|Inborn_genetic_diseases|Myopathy,_RYR1-associated|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38565218C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:574316|GenomeConnect_-_Invitae_Patient_Insights_Network:nvtapin_pin_16933_607;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922855 19 38566975 224403 C T . . AF_ESP=0.00593;AF_EXAC=0.00477;AF_TGP=0.01078;ALLELEID=226141;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38566975C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:649048|UniProtKB_(protein):P21817#VAR_058578;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=73933023 19 38566986 93252 G C . . AF_ESP=0.00331;AF_TGP=0.00180;ALLELEID=99159;CLNDISDB=Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555,SNOMED_CT:48334007|Human_Phenotype_Ontology:HP:0002047,Human_Phenotype_Ontology:HP:0004896,MedGen:CN209346|Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726|Human_Phenotype_Ontology:HP:0003324,Human_Phenotype_Ontology:HP:0003686,Human_Phenotype_Ontology:HP:0003723,MedGen:C0746674|Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:ORPHA97242,SNOMED_CT:240059009|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN169374|MedGen:CN221568|MedGen:CN239331|MedGen:CN517202;CLNDN=Congenital_dislocation_of_hip|Malignant_hyperthermia|EMG:_myopathic_abnormalities|Generalized_muscle_weakness|Congenital_muscular_dystrophy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|not_specified|Myopathy,_progressive_axial_with_cataracts|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38566986G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM117915|Illumina_Laboratory_Services,Illumina:85589;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150396398 19 38570619 478187 C T . . AF_EXAC=0.00001;ALLELEID=470821;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Central_core_myopathy|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38570619C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=NeuroMeGen,Hospital_Clinico_Universitario_de_Santiago_de_Compostela:507_3|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:d077770d-d785-417b-965d-4f9145f196f8;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771741606 19 38570620 65984 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;AF_TGP=0.00020;ALLELEID=76892;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38570620G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Broad_Institute_Rare_Disease_Group,_Broad_Institute:3b75ab50-2af6-4969-abc8-6320cf0462af|Illumina_Laboratory_Services,Illumina:294104|UniProtKB_(protein):P21817#VAR_045739;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=9;RS=118192130 19 38572032 161377 C T . . AF_ESP=0.00008;AF_EXAC=0.00004;ALLELEID=171243;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38572032C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:706d748f-b78b-4e4a-9c2b-84c16ab666ca;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143520367 19 38572185 65941 G A . . ALLELEID=76849;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Central_core_myopathy|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38572185G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:b088c4da-3081-4f52-8606-5231f930bd43|UniProtKB_(protein):P21817#VAR_045742;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192135 19 38572206 133053 G A . . AF_EXAC=0.00004;ALLELEID=136801;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38572206G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:609780|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:6bd9f01c-f1b7-4a6c-a14f-fa476cb87411;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922860 19 38572262 1120228 T C . . ALLELEID=1109128;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38572262T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:40130f4a-102e-4c8c-9c00-c2e7cd3b6098;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38572266 133055 TC CT . . ALLELEID=136803;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38572266_38572267delinsCT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:c2e16786-d7f2-4419-b8fd-4e51876ae437;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922862 19 38573180 133056 C T . . AF_EXAC=0.00002;ALLELEID=136804;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38573180C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:25ff5ca7-5ae6-42cf-8491-dee668263c63|UniProtKB_(protein):P21817#VAR_045746;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922863 19 38573229 133057 T C . . ALLELEID=136805;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38573229T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045747|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:e6b0ba04-60a6-47ea-8327-79b0123e1b6b;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922864 19 38575957 849226 G A . . AF_EXAC=0.00034;ALLELEID=847671;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders;CLNHGVS=NC_000019.10:g.38575957G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:bec54df6-b338-4c50-bae4-dbac909788ba;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200766617 19 38577931 590447 A C . . ALLELEID=581664;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38577931A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:7a6f9182-612c-4259-8200-acb7b5bf70aa;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1568601643 19 38577946 133059 G A . . ALLELEID=136807;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38577946G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:29a2f628-136f-4ef4-a2b6-ae1e6cc296ed;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922866 19 38577954 133060 C T . . ALLELEID=136808;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38577954C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045750|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:0bcab7e3-e758-4cbb-bea3-941d6595ee7c;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922867 19 38577955 133061 G A . . AF_EXAC=0.00001;ALLELEID=136809;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38577955G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045749;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922868 19 38578015 285857 G A . . AF_EXAC=0.00012;ALLELEID=270094;CLNDISDB=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:C2674259|MedGen:CN239331|MedGen:CN517202;CLNDN=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_susceptibility|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38578015G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:656053|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:746a1445-3d13-4cd5-9462-8fd3f831a881;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768360593 19 38578205 1330370 G T . . ALLELEID=1321050;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38578205G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001575|splice_donor_variant;ORIGIN=1 19 38580004 12979 A G . . ALLELEID=28018;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38580004A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705783PA451522|PharmGKB:1183705783PA449845|PharmGKB:1183705783PA164749136|PharmGKB:1183705783PA449461|PharmGKB:1183705783PA450106|OMIM_Allelic_Variant:180901.0016|UniProtKB_(protein):P21817#VAR_045752|PharmGKB:1183705783PA451341|PharmGKB:1183705783PA450434;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192167 19 38580039 478199 TT AA . . ALLELEID=470205;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38580039_38580040inv;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Inversion;CLNVCSO=SO:1000036;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:1cfdb692-c4e9-4ea7-9168-d1f55c86bc5c;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38580041 1213684 C A . . ALLELEID=1203677;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38580041C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38580066 133068 A T . . ALLELEID=136816;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38580066A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:bdacf27f-55ca-493a-8769-5a670375fc9c;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143988412 19 38580075 590453 G A . . ALLELEID=581670;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38580075G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:7ccb64e1-be95-420d-9559-91ed9f57167c;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922873 19 38580075 133069 G T . . ALLELEID=136817;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38580075G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:800a7f42-2c61-4cbc-a08e-7059e84fcef2;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922873 19 38580088 133070 T C . . ALLELEID=136818;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38580088T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045754;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922874 19 38580094 12978 C T . . ALLELEID=28017;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38580094C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705822PA449845|UniProtKB_(protein):P21817#VAR_045756|PharmGKB:1183705822PA450434|OMIM_Allelic_Variant:180901.0015|PharmGKB:1183705822PA451341|PharmGKB:1183705822PA451522|PharmGKB:1183705822PA164749136|PharmGKB:1183705822PA449461|PharmGKB:1183705822PA450106;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121918595 19 38580114 133072 C T . . ALLELEID=136820;CLNDISDB=.|.|.|.|.|.|.|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|not_provided;CLNHGVS=NC_000019.10:g.38580114C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445117525PA450434|PharmGKB:1445117525PA450106|PharmGKB:1445117525PA164749136|PharmGKB:1445117525PA449461|PharmGKB:1445117525PA451522|PharmGKB:1445117525PA451341|PharmGKB:1445117525PA449845;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922876 19 38580126 590454 C G . . ALLELEID=581671;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38580126C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:8b422b17-698b-480f-9385-0d60fd543707;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1568604577 19 38580370 133074 C G . . ALLELEID=136822;CLNDISDB=.|.|.|.|.|.|.|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|not_provided;CLNHGVS=NC_000019.10:g.38580370C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1447673787PA451522|PharmGKB:1447673787PA451341|PharmGKB:1447673787PA449461|PharmGKB:1447673787PA449845|PharmGKB:1447673787PA164749136|PharmGKB:1447673787PA450434|PharmGKB:1447673787PA450106|UniProtKB_(protein):P21817#VAR_045757;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922878 19 38580382 133075 G A . . AF_ESP=0.00008;AF_EXAC=0.00005;ALLELEID=38832;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0015765,MedGen:CN221584,Orphanet:ORPHA172976|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MONDO:MONDO:0019056,MedGen:C0027868,Orphanet:ORPHA68381|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_cores|Malignant_hyperthermia_susceptibility|Neuromuscular_disease|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38580382G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045758|Illumina_Laboratory_Services,Illumina:631791|OMIM_Allelic_Variant:180901.0036;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922879;CLNDISDBINCL=Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001;CLNDNINCL=Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy;CLNSIGINCL=65396:Pathogenic|424828:Likely_pathogenic 19 38580403 12984 G A . . AF_EXAC=0.00001;ALLELEID=28023;CLNDISDB=.|.|.|.|.|.|.|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C4016368|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Minicore_myopathy_with_external_ophthalmoplegia|Malignant_hyperthermia,_susceptibility_to,_1|Central_core_disease,_autosomal_recessive|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38580403G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1449157773PA450434|PharmGKB:1449157773PA449845|PharmGKB:1449157773PA166131630|PharmGKB:1449157773PA451341|PharmGKB:1449157773PA451522|PharmGKB:1449157773PA450106|OMIM_Allelic_Variant:180901.0022|UniProtKB_(protein):P21817#VAR_045760|PharmGKB:1449157773PA164749136|PharmGKB:1449157773PA449461;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192168 19 38580416 544455 C T . . ALLELEID=533057;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38580416C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555803922 19 38580425 133077 C G . . ALLELEID=136824;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38580425C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922880 19 38580439 65986 C T . . ALLELEID=76894;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN169374|MedGen:CN239331|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia_susceptibility|not_specified|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38580439C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045762;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=33;RS=118192181 19 38580440 12982 G A . . ALLELEID=28021;CLNDISDB=.|.|.|.|.|.|.|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:C2674259|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38580440G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1445400924PA449461|PharmGKB:1445400924PA449845|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab),_CHU_de_Nantes:CLIN0120|PharmGKB:1445400924PA164749136|OMIM_Allelic_Variant:180901.0019|PharmGKB:1445400924PA450106|PharmGKB:1445400924PA450434|PharmGKB:1445400924PA451522|PharmGKB:1445400924PA451341|UniProtKB_(protein):P21817#VAR_045763;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=63749869 19 38580485 133081 A G . . ALLELEID=136828;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38580485A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045766|ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:c0331ac2-972c-4b78-ad2a-8ceb6915a9db;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113210953 19 38580497 133082 T C . . ALLELEID=136829;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38580497T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922883 19 38584974 65988 G A . . ALLELEID=76896;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN239331|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia_susceptibility|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38584974G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045768;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192151 19 38584976 133087 G A . . ALLELEID=136834;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38584976G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922888 19 38584989 12975 T C . . ALLELEID=28014;CLNDISDB=.|.|.|.|.|.|.|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:ORPHA98905|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED_CT:240084007|MedGen:CN239331|MedGen:CN517202;CLNDN=desflurane_response_-_Toxicity|enflurane_response_-_Toxicity|halothane_response_-_Toxicity|isoflurane_response_-_Toxicity|methoxyflurane_response_-_Toxicity|sevoflurane_response_-_Toxicity|succinylcholine_response_-_Toxicity|Minicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_myopathy_with_fiber_type_disproportion|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38584989T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183705788PA451341|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_1242|PharmGKB:1183705788PA164749136|PharmGKB:1183705788PA450434|PharmGKB:1183705788PA449461|PharmGKB:1183705788PA451522|UniProtKB_(protein):P21817#VAR_045771|PharmGKB:1183705788PA450106|OMIM_Allelic_Variant:180901.0012|OMIM_Allelic_Variant:180901.0020|PharmGKB:1183705788PA449845;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=33;RS=118192170 19 38585078 590472 A G . . ALLELEID=581689;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38585078A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1286759539 19 38585099 1210316 G A . . ALLELEID=1200320;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38585099G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Malignant_Hyperthermia_Susceptibility_Variant_Curation_Expert_Panel,ClinGen:d44be07a-a658-4e1b-a953-51726083f70d;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38585947 1214001 T C . . ALLELEID=1203994;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1;CLNHGVS=NC_000019.10:g.38585947T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38585948 65955 C G . . ALLELEID=76863;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38585948C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045778;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192159 19 38585951 133093 C A . . ALLELEID=136840;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423|MedGen:CN517202;CLNDN=Malignant_hyperthermia_susceptibility|not_provided;CLNHGVS=NC_000019.10:g.38585951C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045779;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922895 19 38585952 65927 G A . . AF_EXAC=0.00001;ALLELEID=76835;CLNDISDB=MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:ORPHA597,SNOMED_CT:43152001|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN239331|MedGen:CN517202;CLNDN=Central_core_myopathy|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-Related_Disorders|not_provided;CLNHGVS=NC_000019.10:g.38585952G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045780;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=118192158 19 38585959 133094 G T . . ALLELEID=136841;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38585959G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P21817#VAR_045781;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922896 19 38586101 133096 T A . . ALLELEID=136843;CLNDISDB=MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600|MedGen:CN517202;CLNDN=Malignant_hyperthermia,_susceptibility_to,_1|not_provided;CLNHGVS=NC_000019.10:g.38586101T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193922898 19 38586190 1213824 A G . . ALLELEID=1203817;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38586190A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38587362 1213822 G C . . ALLELEID=1203815;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38587362G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 38587363 1213823 G C . . ALLELEID=1203816;CLNDISDB=MONDO:MONDO:0018493,MedGen:C0024591,OMIM:PS145600,Orphanet:ORPHA423;CLNDN=Malignant_hyperthermia_susceptibility;CLNHGVS=NC_000019.10:g.38587363G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RYR1:6261;MC=SO:0001583|missense_variant;ORIGIN=1 19 39244283 375658 A G . . AF_TGP=0.25120;ALLELEID=362509;CLNDISDB=MedGen:CN240583|MedGen:CN240584|MedGen:CN240603;CLNDN=peginterferon_alfa-2a_response_-_Efficacy|peginterferon_alfa-2b_response_-_Efficacy|ribavirin_response_-_Efficacy;CLNHGVS=NC_000019.10:g.39244283A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1448102439PA164749390|PharmGKB:1448102439PA451241|PharmGKB:1448102439|PharmGKB:1448102439PA164784024;GENEINFO=IFNL3:282617;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11881222 19 39248147 225949 C T . . AF_TGP=0.35583;ALLELEID=227801;CLNDISDB=.|MedGen:CN169374|MedGen:CN236450|MedGen:CN236451;CLNDN=boceprevir,_peginterferon_alfa-2a,_peginterferon_alfa-2b_and_ribavirin_response_-_Efficacy|not_specified|peginterferon_alfa-2a,_peginterferon_alfa-2b,_and_ribavirin_response_-_Efficacy|peginterferon_alfa-2a,_peginterferon_alfa-2b,_ribavirin,_and_telaprevir_response_-_Efficacy;CLNHGVS=NC_000019.10:g.39248147C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1183680546PA164784024|PharmGKB:827862764|PharmGKB:1183680546|PharmGKB:1183680546PA165948902|PharmGKB_Clinical_Annotation:1183888969|PharmGKB_Clinical_Annotation:827862764|PharmGKB:1183680546PA451241|PharmGKB:1183888969;GENEINFO=IFNL3:282617|IFNL4:101180976;ORIGIN=1;RS=12979860 19 39252525 226027 T G . . AF_TGP=0.13119;ALLELEID=227802;CLNDISDB=MedGen:CN236449|MedGen:CN236451|MedGen:CN517202;CLNDN=interferons,_peginterferon_alfa-2a,_peginterferon_alfa-2b,_and_ribavirin_response_-_Efficacy|peginterferon_alfa-2a,_peginterferon_alfa-2b,_ribavirin,_and_telaprevir_response_-_Efficacy|not_provided;CLNHGVS=NC_000019.10:g.39252525T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:1183888959|PharmGKB:1183888959|PharmGKB:981239773|PharmGKB_Clinical_Annotation:981239773;GENEINFO=IFNL3:282617;ORIGIN=1;RS=8099917 19 41006936 29671 G T . . AF_ESP=0.29040;AF_TGP=0.31570;ALLELEID=38626;CLNDISDB=.|.|MONDO:MONDO:0013799,MedGen:C3281153,OMIM:614546|MedGen:CN236550;CLNDN=efavirenz_response_-_Toxicity|nevirapine_response_-_Metabolism/PK|Efavirenz_response|efavirenz_response_-_Metabolism/PK;CLNHGVS=NC_000019.10:g.41006936G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:827923032PA449441|PharmGKB:1183702975|PharmGKB:827923042|UniProtKB_(protein):P20813#VAR_016925|PharmGKB:827923032|PharmGKB:1183702975PA450401|PharmGKB:827923042PA449441|OMIM_Allelic_Variant:123930.0001|PharmGKB:981202294PA450616|PharmGKB:981202294;GENEINFO=CYP2B6:1555;MC=SO:0001583|missense_variant;ORIGIN=1;RS=3745274 19 41012316 225985 T C . . AF_ESP=0.02145;AF_EXAC=0.00647;AF_TGP=0.02316;ALLELEID=227805;CLNDISDB=.;CLNDN=nevirapine_response_-_Toxicity;CLNHGVS=NC_000019.10:g.41012316T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:981201854|PharmGKB:981201854|UniProtKB_(protein):P20813#VAR_024716|PharmGKB:981201844|PharmGKB:981201854PA450616|PharmGKB:1444666386PA450616|PharmGKB:981201844PA449441|PharmGKB_Clinical_Annotation:981201844;GENEINFO=CYP2B6:1555;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28399499 19 43506795 329439 C A . . AF_ESP=0.00175;AF_TGP=0.00180;ALLELEID=349053;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43506795C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:150220;GENEINFO=ETHE1:23474;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=201842186 19 43506854 658833 G A . . ALLELEID=648171;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43506854G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ETHE1:23474;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1366031091 19 43507763 671647 T C . . ALLELEID=670304;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN517202;CLNDN=Ethylmalonic_encephalopathy|not_provided;CLNHGVS=NC_000019.10:g.43507763T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:29d7a907-0367-403f-a949-666538359d42;GENEINFO=ETHE1:23474;MC=SO:0001627|intron_variant;ORIGIN=1;RS=12985024 19 43507856 673475 C T . . AF_EXAC=0.11456;AF_TGP=0.13878;ALLELEID=670036;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN517202;CLNDN=Ethylmalonic_encephalopathy|not_provided;CLNHGVS=NC_000019.10:g.43507856C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ETHE1:23474;MC=SO:0001627|intron_variant;ORIGIN=1;RS=150923593 19 43508051 504504 A AC . . ALLELEID=496128;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43508052dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:afe48119-3f05-410f-8987-7559d29b982c;GENEINFO=ETHE1:23474;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555761934 19 43508797 517993 G A . . AF_EXAC=0.00031;AF_TGP=0.00060;ALLELEID=506854;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN169374;CLNDN=Ethylmalonic_encephalopathy|not_specified;CLNHGVS=NC_000019.10:g.43508797G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ETHE1:23474;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139119694 19 43511173 671157 A C . . AF_TGP=0.14018;ALLELEID=670305;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN517202;CLNDN=Ethylmalonic_encephalopathy|not_provided;CLNHGVS=NC_000019.10:g.43511173A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ETHE1:23474;MC=SO:0001627|intron_variant;ORIGIN=1;RS=117069120 19 43511436 504502 C A . . ALLELEID=496126;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43511436C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ETHE1:23474;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=935855792 19 43511436 496427 C T . . ALLELEID=487822;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43511436C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ETHE1:23474;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=935855792 19 43511454 214322 C T . . AF_EXAC=0.00003;ALLELEID=211889;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43511454C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O95571#VAR_069509|Illumina_Laboratory_Services,Illumina:448696;GENEINFO=ETHE1:23474;MC=SO:0001583|missense_variant;ORIGIN=1;RS=745656120 19 43511455 2317 G A . . AF_EXAC=0.00002;ALLELEID=17356;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43511455G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):O95571#VAR_023397|ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:fee72906-744e-40b2-a972-1025f79f0db5|OMIM_Allelic_Variant:608451.0001;GENEINFO=ETHE1:23474;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28940289 19 43511515 468478 C T . . AF_ESP=0.00008;AF_EXAC=0.00009;AF_TGP=0.00020;ALLELEID=471010;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43511515C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ETHE1:23474;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201846162 19 43511564 379605 C T . . AF_ESP=0.00008;ALLELEID=376595;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN169374;CLNDN=Ethylmalonic_encephalopathy|not_specified;CLNHGVS=NC_000019.10:g.43511564C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ETHE1:23474;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=138427304 19 43526205 329442 C A . . AF_EXAC=0.00005;ALLELEID=349945;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN517202;CLNDN=Ethylmalonic_encephalopathy|not_provided;CLNHGVS=NC_000019.10:g.43526205C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:743096;GENEINFO=ETHE1:23474;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=770508697 19 43526358 137237 G C . . AF_ESP=0.00323;AF_TGP=0.00060;ALLELEID=140940;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN169374|MedGen:CN517202;CLNDN=Ethylmalonic_encephalopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.43526358G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:99149;GENEINFO=ETHE1:23474;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199921503 19 43526544 329444 T C . . AF_EXAC=0.00007;ALLELEID=333732;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188;CLNDN=Ethylmalonic_encephalopathy;CLNHGVS=NC_000019.10:g.43526544T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:484989;GENEINFO=ETHE1:23474;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=777252863 19 43527117 137240 C A . . AF_ESP=0.01217;AF_EXAC=0.01132;AF_TGP=0.02336;ALLELEID=140943;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN169374|MedGen:CN517202;CLNDN=Ethylmalonic_encephalopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.43527117C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:87395|ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:24885ccf-9898-4dd2-9697-2788635e2099|Illumina_Laboratory_Services,Illumina:582013;GENEINFO=ETHE1:23474;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=116440799 19 43527172 260385 C T . . AF_ESP=0.14891;AF_EXAC=0.19066;AF_TGP=0.15236;ALLELEID=257139;CLNDISDB=MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:ORPHA51188|MedGen:CN169374|MedGen:CN517202;CLNDN=Ethylmalonic_encephalopathy|not_specified|not_provided;CLNHGVS=NC_000019.10:g.43527172C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:23397|ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:1931d802-2e7e-48dd-b06f-68f862cfb491;GENEINFO=ETHE1:23474;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=3810381 19 43551574 225976 T C . . AF_ESP=0.70921;AF_EXAC=0.68340;AF_TGP=0.73962;ALLELEID=227806;CLNDISDB=.|MedGen:CN517202;CLNDN=Platinum_compounds_response_-_Efficacy|not_provided;CLNHGVS=NC_000019.10:g.43551574T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:655386657PA150595617|PharmGKB_Clinical_Annotation:655386657|PharmGKB:655386657PA131285527|PharmGKB:655386657|PharmGKB:655386657PA448803|PharmGKB:655386657PA449014|PharmGKB:655386657PA164713176;GENEINFO=XRCC1:7515;MC=SO:0001583|missense_variant;ORIGIN=1;RS=25487 19 44908822 17848 C T . . AF_EXAC=0.07182;AF_TGP=0.07508;ALLELEID=32887;CLNDISDB=Human_Phenotype_Ontology:HP:0003124,Human_Phenotype_Ontology:HP:0008154,Human_Phenotype_Ontology:HP:0008173,Human_Phenotype_Ontology:HP:0008359,MedGen:C1522133,SNOMED_CT:238076009|MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700|MONDO:MONDO:0018473,MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED_CT:398796005|MedGen:CN169374|MedGen:CN236484|MedGen:CN517202;CLNDN=Hypercholesterolemia|Warfarin_response|Familial_type_3_hyperlipoproteinemia|not_specified|atorvastatin_response_-_Efficacy|not_provided;CLNHGVS=NC_000019.10:g.44908822C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_84|OMIM_Allelic_Variant:107741.0019|PharmGKB_Clinical_Annotation:1183492249|OMIM_Allelic_Variant:107741.0021|Molecular_Diagnostic_Laboratory_for_Inherited_Cardiovascular_Disease,Montreal_Heart_Institute:9115001|PharmGKB:1183492249PA448500|OMIM_Allelic_Variant:107741.0001|PharmGKB:1183492249|OMIM_Allelic_Variant:107741.0009|UniProtKB_(protein):P02649#VAR_000664;GENEINFO=APOE:348;MC=SO:0001583|missense_variant;ORIGIN=1;RS=7412;CLNDISDBINCL=.|MONDO:MONDO:0018473,MedGen:C0020479,OMIM:617347,Orphanet:ORPHA412,SNOMED_CT:398796005|MedGen:CN169374;CLNDNINCL=Apolipoproteinemia_E1|Familial_type_3_hyperlipoproteinemia|not_specified;CLNSIGINCL=441262:Pathogenic|441265:Pathogenic|441266:Pathogenic|666796:Uncertain_significance 20 3213196 14746 C A . . AF_EXAC=0.07710;AF_TGP=0.08946;ALLELEID=29785;CLNDISDB=.|MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MedGen:CN169374|MedGen:CN517202;CLNDN=peginterferon_alfa-2b_and_ribavirin_response_-_Toxicity|Inosine_triphosphatase_deficiency|not_specified|not_provided;CLNHGVS=NC_000020.11:g.3213196C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q9BY32#VAR_015576|PharmGKB:981237907|PharmGKB:1446905691|PharmGKB_Clinical_Annotation:1446905691|OMIM_Allelic_Variant:147520.0001|PharmGKB_Clinical_Annotation:981237907;GENEINFO=ITPA:3704;MC=SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1127354 20 3213247 14747 A C . . AF_ESP=0.11180;AF_EXAC=0.08863;AF_TGP=0.05911;ALLELEID=29786;CLNDISDB=.|MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MONDO:MONDO:0014719,MedGen:C4225256,OMIM:616647,Orphanet:ORPHA457375|MedGen:CN517202;CLNDN=peginterferon_alfa-2b_and_ribavirin_response_-_Toxicity|Inosine_triphosphatase_deficiency|Epileptic_encephalopathy,_early_infantile,_35|not_provided;CLNHGVS=NC_000020.11:g.3213247A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB_Clinical_Annotation:1446905703|PharmGKB:1449309975PA448515|PharmGKB:1446905703|OMIM_Allelic_Variant:147520.0002;GENEINFO=ITPA:3704;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7270101 21 34787885 339792 G A . . AF_TGP=0.00040;ALLELEID=336677;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34787885G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:666647|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:4586f0b8-a873-4ed9-9f03-7d1acc138c75;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=186103543 21 34787897 339793 C A . . AF_TGP=0.00220;ALLELEID=350599;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34787897C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:5a1a3357-69e2-4980-bed5-5aa7c277d6fe|Illumina_Laboratory_Services,Illumina:90968;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=138870671 21 34787995 339796 G A . . AF_TGP=0.00319;ALLELEID=336686;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34787995G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:128342|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:29652fe8-e9d3-411e-b7da-407a4d918e27;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=141693054 21 34788103 339797 A G . . AF_TGP=0.02716;ALLELEID=351653;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34788103A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:3c95e75d-735c-49cf-9bef-f6bd97b0da95|Illumina_Laboratory_Services,Illumina:583879;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=78335539 21 34788158 339799 C T . . AF_TGP=0.00060;ALLELEID=346357;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34788158C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:155358|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:da0bcbca-a4b1-4e32-a2e0-701807535636;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=189557277 21 34788414 339801 T A . . AF_TGP=0.00060;ALLELEID=346369;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34788414T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:d6249ec6-8bee-41b0-825c-9d9d2d30ddac|Illumina_Laboratory_Services,Illumina:482269;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=188246960 21 34788516 339802 T C . . AF_TGP=0.01498;ALLELEID=350602;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34788516T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:137365|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:a3156b5a-f778-4a4a-9a67-d1364c25bb90;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=139372063 21 34788561 339805 T C . . AF_TGP=0.02516;ALLELEID=350603;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34788561T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:583881|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:3e72271f-6c98-418b-8ac0-8bf19c94c55a;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=113375138 21 34788755 339809 T C . . AF_TGP=0.03654;ALLELEID=346372;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34788755T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:137372|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:0020f5d8-81da-4dcb-858c-f938446b51ef;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=79122814 21 34788790 339810 T A . . AF_TGP=0.01558;ALLELEID=350608;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34788790T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:86fc220e-350e-4d28-97db-e97caaba1f41|Illumina_Laboratory_Services,Illumina:102807;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=56151547 21 34789075 339815 A G . . AF_TGP=0.01617;ALLELEID=350609;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789075A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:e7aec9ba-f97e-483b-81a5-1ff39445b706|Illumina_Laboratory_Services,Illumina:137395;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=76478380 21 34789249 339817 A G . . AF_TGP=0.00280;ALLELEID=336699;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789249A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:145805|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:99b8d3fc-002a-45ad-ac49-c560be0144c6;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=140071395 21 34789365 339821 G C . . AF_TGP=0.01558;ALLELEID=336711;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789365G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:fb1db2a4-a843-4fb1-a28e-6efbdb11d647|Illumina_Laboratory_Services,Illumina:29685;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=75192893 21 34789367 339822 T G . . AF_TGP=0.02736;ALLELEID=351663;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789367T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:583883|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:3689a40d-1e1d-45dc-8039-377d77f041f0;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=74950917 21 34789493 339824 T C . . AF_TGP=0.00479;ALLELEID=351666;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789493T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:151037|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:c614c417-4269-486f-95f6-e2c7edd76593;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=112327235 21 34789509 339825 T C . . AF_TGP=0.00280;ALLELEID=351667;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789509T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:206774|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:a9821911-94cf-46fa-9cfe-3870b003eb13;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=77550657 21 34789584 339827 T TCA . . ALLELEID=351669;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789586AC[10];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:588b8cdc-075a-4421-9fbe-3f873c51af1c|Illumina_Laboratory_Services,Illumina:614716;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=371955155 21 34789661 339830 A G . . AF_TGP=0.05371;ALLELEID=351670;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789661A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:119917|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:30638b6b-bdfb-43ce-a760-0c02fe8c1ae2;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=56202419 21 34789667 339831 A AT . . ALLELEID=350615;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789675dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Laboratory_Services,Illumina:498402|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:75889656-d063-4c7c-9cc4-2934b98fb131;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=200050352 21 34789806 339833 T C . . AF_TGP=0.00300;ALLELEID=350616;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789806T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:736065|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:13a52a13-6d9c-4fac-889b-0e96dcfa5552;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=529363958 21 34789850 339835 T G . . AF_TGP=0.04373;ALLELEID=350619;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789850T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:137405|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:6220b404-e4a7-4f1e-b35d-e8e5f25fc6bd;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=75749444 21 34789933 339837 G GA . . ALLELEID=346386;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789941dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Laboratory_Services,Illumina:498404|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:99a689b0-3c05-4d64-9af3-b0a1da2540b5;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=201214658 21 34789941 339838 AC A . . AF_TGP=0.01358;ALLELEID=336717;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34789942del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:7069eaf3-7f60-45ec-b776-128e1fbd7466|Illumina_Laboratory_Services,Illumina:636619;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=201977305 21 34790130 339839 T C . . AF_TGP=0.00020;ALLELEID=350623;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34790130T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:747357;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=115087797 21 34790312 339841 T G . . AF_TGP=0.00599;ALLELEID=351675;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34790312T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:7a266754-d5a5-4f62-905b-a36beee11337|Illumina_Laboratory_Services,Illumina:455244;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=369678325 21 34790415 339842 G A . . AF_TGP=0.00060;ALLELEID=350626;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34790415G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:33cd1d5a-1363-4e32-bfd8-26f5959fa813|Illumina_Laboratory_Services,Illumina:272901;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=568766039 21 34790450 339843 CAT C . . AF_TGP=0.00220;ALLELEID=351677;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34790451_34790452del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:f5aa4c58-15b9-4b14-8262-80ae9e0fec59|Illumina_Laboratory_Services,Illumina:643963;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=55761346 21 34790669 339844 C T . . AF_TGP=0.00699;ALLELEID=351679;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34790669C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:ce344b02-0255-412c-bf58-71bed3365f26|Illumina_Laboratory_Services,Illumina:119927;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=144796880 21 34790997 339849 G T . . AF_TGP=0.02037;ALLELEID=351686;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34790997G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:64166|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:d96b432e-25aa-41d4-89cc-;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=55744508 21 34791576 339863 A G . . AF_TGP=0.04293;ALLELEID=336736;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34791576A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:0ea93da7-0cff-41ec-a783-aa9c3bc899c7|Illumina_Laboratory_Services,Illumina:120857;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=73362827 21 34792047 339871 C A . . AF_EXAC=0.00176;AF_TGP=0.01977;ALLELEID=336740;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792047C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:883d9d40-d6a1-4c11-b941-e3cf899911d3|Illumina_Laboratory_Services,Illumina:548366;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=539980908 21 34792065 339872 A G . . AF_EXAC=0.00784;AF_TGP=0.04573;ALLELEID=336742;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792065A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:255694|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:bb76b4f7-a031-486f-ab7d-c612186f8b15;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=150481777 21 34792108 258180 G T . . AF_EXAC=0.60031;AF_TGP=0.37061;ALLELEID=257452;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified|not_provided;CLNHGVS=NC_000021.9:g.34792108G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:29677|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:210d2128-e3f8-4416-9c59-354182020a63;GENEINFO=RUNX1:861;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=13051066 21 34792138 463985 G A . . ALLELEID=470630;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792138G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1555884783 21 34792156 339874 C A . . ALLELEID=350633;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792156C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:261908|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:272c05cd-977f-4310-b29b-61bd0a72da18;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886057047 21 34792164 532664 G GGC . . ALLELEID=533817;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792166CG[4];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:d4e4778b-1537-485e-88bb-36c15bebe04c;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555884790 21 34792182 463982 T A . . ALLELEID=471618;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792182T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:1815874;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762213305 21 34792183 666273 G T . . ALLELEID=653830;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792183G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:49879cb4-10b0-44b7-a695-0af82d9e37d5;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1447497062 21 34792189 258184 G C . . AF_ESP=0.03061;AF_TGP=0.05831;ALLELEID=257453;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified|none_provided|not_provided;CLNHGVS=NC_000021.9:g.34792189G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:119958|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:9ae68387-9090-4f9d-933e-8799521dac42;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61750222 21 34792223 339875 A C . . AF_EXAC=0.00020;ALLELEID=336744;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792223A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:1b105287-c135-44f7-b0a1-0719b8f91b20|Illumina_Laboratory_Services,Illumina:261914;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751710767 21 34792261 415831 G A . . ALLELEID=404243;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792261G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:2c4f9e62-f097-4573-acc3-;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504667 21 34792309 239042 G A . . AF_EXAC=0.00108;AF_TGP=0.00020;ALLELEID=243602;CLNDISDB=Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Acute_myeloid_leukemia|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792309G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:96227|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:35a9e328-f29e-49b8-8ad9-03779bd95996;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=9;RS=544247912 21 34792314 561226 C CGCCGCCCACCATGGAGAACTGGTAGGAGCCGGCCGAGGCGCCGTAGTACAGGTGGTAGGAGGGA . . ALLELEID=552358;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34792315_34792377GCC[2]CACCATGGAGAACTGGTAGGAGCCGGCCGAGGCGCCGTAGTACAGGTGGTAGGAGGGAGCCGCCCACCATGGAGAACTGGTAGGAGCCGGCCGAGGCGCCGTAGTACAGGTGGTAGGAGGG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569001972 21 34792321 436611 C T . . ALLELEID=430417;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified;CLNHGVS=NC_000021.9:g.34792321C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:45e8489f-6a97-40c0-8875-ebee7b797ef2;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1172332120 21 34792346 561224 G GCCGA . . ALLELEID=552360;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34792347_34792350dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569002077 21 34792376 561223 G GGCGA . . ALLELEID=552361;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34792379_34792382dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569002159 21 34792415 561222 G T . . ALLELEID=552362;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792415G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:37cf5142-fd3f-4896-9da9-ca4c54b542ea;GENEINFO=RUNX1:861;MC=SO:0001587|nonsense;ORIGIN=1;RS=1569002296 21 34792418 532662 C G . . ALLELEID=533838;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792418C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:796f47f4-6c31-4833-8a66-03f0dc55514a;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1238015554 21 34792474 239040 C CATGCCG . . ALLELEID=243603;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792480GATGCC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:06359166-e7e4-4c6e-8e13-8246247788c2|Invitae:143519;GENEINFO=RUNX1:861;MC=SO:0001821|inframe_insertion;ORIGIN=1;RS=750495319 21 34792492 415828 C G . . AF_ESP=0.00077;AF_TGP=0.00180;ALLELEID=404227;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792492C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:ce8d15b3-b9f0-4e41-bd0d-9e4806b3eaae;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143947839 21 34792573 239039 C A . . AF_EXAC=0.00027;AF_TGP=0.00020;ALLELEID=243604;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792573C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:637552|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:1ef12dd0-41cd-4ff0-897f-dd0a414457bc;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80314254 21 34792575 561221 G A . . ALLELEID=552363;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34792575G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:cbecae18-9ab1-44bb-af9a-;GENEINFO=RUNX1:861;MC=SO:0001587|nonsense;ORIGIN=1;RS=1569002881 21 34792580 572808 G C . . ALLELEID=571520;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792580G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:4e2707eb-f96a-47cd-b129-b2b5449560db;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200104203 21 34792593 464015 C T . . ALLELEID=469592;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792593C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:2967f0b8-1610-443c-bd6e-82e925e748ed;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1415582429 21 34792602 581331 C A . . ALLELEID=571527;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34792602C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:ea02a531-8c2f-48cd-9a21-68ec84cb451a;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1217420692 21 34792620 869208 G T . . ALLELEID=857421;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34792620G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:d74d85e4-02fd-4212-a6a5-6ddfcac28021;GENEINFO=RUNX1:861;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1476636108 21 34799310 618862 G A . . ALLELEID=610162;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Thrombocytopenia|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34799310G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:eca0a471-83bb-4860-bfa2-b0943d4a59e6|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:13416;GENEINFO=RUNX1:861;MC=SO:0001587|nonsense;ORIGIN=1;RS=1569008655 21 34799316 415833 A C . . AF_EXAC=0.00077;ALLELEID=403736;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34799316A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=545554349 21 34799341 239057 G A . . AF_ESP=0.01246;AF_EXAC=0.00343;AF_TGP=0.01198;ALLELEID=243606;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34799341G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:742560;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=59802347 21 34799344 415830 G A . . ALLELEID=404263;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34799344G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:8568b183-5fdb-4f4a-b47c-4a61cbaad38e;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504666 21 34799407 14467 G T . . ALLELEID=29506;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34799407G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:151385.0005|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:fed802a7-8c1d-4396-89f1-65546e996764;GENEINFO=RUNX1:861;MC=SO:0001587|nonsense;ORIGIN=1;RS=121912499 21 34799425 532679 G A . . AF_ESP=0.00008;AF_EXAC=0.00002;ALLELEID=533846;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34799425G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:71661a8d-85f7-4ba7-a0f0-d9815c807144;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=377142186 21 34799444 464009 G A . . AF_EXAC=0.00021;AF_TGP=0.00020;ALLELEID=471187;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34799444G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:ed562b68-0918-4a40-899c-7000d16d5da8;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201164283 21 34799447 561256 TG T . . ALLELEID=552365;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34799449del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569009004 21 34834447 464006 G A . . AF_EXAC=0.00001;ALLELEID=470637;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34834447G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780019726 21 34834471 532682 G A . . ALLELEID=533849;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34834471G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:4fbea03e-7dd2-4112-af41-3bea74ee084b;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1555889947 21 34834486 436613 T G . . ALLELEID=430418;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified;CLNHGVS=NC_000021.9:g.34834486T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=999807714 21 34834495 561255 TG T . . ALLELEID=552366;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34834498del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:5defe64f-3458-4674-9b63-4b575ecc3f0d;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569037127 21 34834501 464005 G A . . AF_EXAC=0.00002;ALLELEID=471623;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34834501G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:c9116a27-fbc3-48b0-a88d-105f910ddde7;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776056802 21 34834510 532686 G A . . ALLELEID=533863;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34834510G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:0296c915-483d-450c-bd77-48afc65e46a6;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772770088 21 34834517 415832 C T . . AF_ESP=0.00023;AF_EXAC=0.00016;AF_TGP=0.00020;ALLELEID=404272;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified;CLNHGVS=NC_000021.9:g.34834517C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:52a12148-1cdf-4d95-bf36-4dfae2e0e6e7;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150042294 21 34834524 561254 GC TT . . ALLELEID=552367;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34834524_34834525delinsTT;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:94cf2a91-76f4-4377-8df1-3e267f40dd07;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1569037241 21 34834536 545522 C A . . ALLELEID=536024;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34834536C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:1c4b6804-f641-4dd6-931b-84e1443249f2;GENEINFO=RUNX1:861;MC=SO:0001587|nonsense;ORIGIN=1;RS=1555889984 21 34834561 239052 G A . . AF_ESP=0.00046;AF_EXAC=0.00031;AF_TGP=0.00080;ALLELEID=243611;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34834561G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:4b6d6bcb-da2e-42b4-886e-38565501ee4a|Illumina_Laboratory_Services,Illumina:133597;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145230602 21 34834570 464001 C T . . ALLELEID=471631;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34834570C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:0db785bf-1e86-4ff3-b502-5b777605f7f2;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1312588693 21 34834635 258186 G A . . AF_EXAC=1.00000;AF_TGP=1.00000;ALLELEID=257457;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified|not_provided;CLNHGVS=NC_000021.9:g.34834635G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:e7c466ba-2630-4273-adcf-da7d8ca99b52;GENEINFO=RUNX1:861;MC=SO:0001627|intron_variant;ORIGIN=1;RS=11702841 21 34859466 339876 G A . . AF_ESP=0.00054;AF_EXAC=0.00259;AF_TGP=0.00060;ALLELEID=350636;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34859466G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:a5b1509f-a41a-4e1f-8abf-f00dfd44bcf5|Illumina_Laboratory_Services,Illumina:713180;GENEINFO=RUNX1:861;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186585782 21 34859476 561253 C T . . ALLELEID=552368;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Thrombocytopenia|Abnormal_bleeding|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34859476C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:ad45320e-ac57-472f-b6c0-f7a6ebda5841;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1569061762 21 34859477 561252 G A . . ALLELEID=552369;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Thrombocytopenia|Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34859477G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001587|nonsense;ORIGIN=1;RS=1569061768 21 34859485 14464 C T . . ALLELEID=29503;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34859485C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:52b9ca56-4641-4652-8c86-bee9650bacf2|OMIM_Allelic_Variant:151385.0002;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74315450 21 34859486 376018 G A . . ALLELEID=362897;CLNDISDB=Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Acute_myeloid_leukemia|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34859486G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:86145d7f-0d2f-4234-81b7-bd179ea8e91f;GENEINFO=RUNX1:861;MC=SO:0001587|nonsense;ORIGIN=3;RS=1057519748 21 34859491 869210 C T . . ALLELEID=857422;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34859491C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:de750d9a-56cc-4163-b7de-f2837e11ad9b;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2057541040 21 34859494 627342 T A . . ALLELEID=615635;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Thrombocytopenia|Abnormal_bleeding|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34859494T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:05236ec3-500a-4994-b830-31e58ed86bfb;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1569061786 21 34859520 561248 G C . . ALLELEID=552372;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34859520G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001587|nonsense;ORIGIN=1;RS=1569061831 21 34859524 532659 G C . . ALLELEID=533850;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34859524G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:cf85a4a4-1e5d-4f72-b064-0a7bbcc1e78e;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1343295642 21 34859530 212089 A T . . ALLELEID=208712;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34859530A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:3ff9a59f-f463-4e1a-942e-a60afc15686a;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=797045927 21 34859535 463997 C A . . ALLELEID=469595;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34859535C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=752586117 21 34859555 561246 T G . . ALLELEID=552374;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34859555T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:c1eaabe2-0120-42d8-8111-750503fe2b65;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1569061931 21 34880553 14466 GT G . . ALLELEID=29505;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880554del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:d7a48ae9-bd50-426d-bb9f-589c53013a9b|OMIM_Allelic_Variant:151385.0004;GENEINFO=RUNX1:861;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587776810 21 34880555 642956 A G . . ALLELEID=653667;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880555A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:1c4b0383-2515-4886-ac55-0a5bad0dc22a;GENEINFO=RUNX1:861;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1601515707 21 34880556 561244 C CCTCTT . . ALLELEID=552378;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34880558_34880562dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569078774 21 34880559 869207 C A . . ALLELEID=857423;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880559C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:35141b76-e7bf-4e0e-977a-0f8379520709;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2057883934 21 34880563 561243 C T . . ALLELEID=552379;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34880563C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:d6e9b950-bdb2-405a-b288-176c8db7a1c5;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1569078784 21 34880563 561242 CA C . . ALLELEID=552380;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34880564del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:ed51d746-8682-4c1e-b6ef-66feb364fcbe;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569078799 21 34880568 417961 C T . . ALLELEID=404848;CLNDISDB=MONDO:MONDO:0000009,MeSH:D001791,MedGen:C0005818,OMIM:PS231200|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Inherited_bleeding_disorder,_platelet-type|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880568C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:ba8c0c9c-028c-473b-9259-a8316db5b16d;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1060499616 21 34880579 376019 C A . . ALLELEID=362898;CLNDISDB=Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290;CLNDN=Acute_myeloid_leukemia|Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome;CLNHGVS=NC_000021.9:g.34880579C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1057519749 21 34880579 376020 C G . . ALLELEID=362899;CLNDISDB=Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290;CLNDN=Acute_myeloid_leukemia|Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome;CLNHGVS=NC_000021.9:g.34880579C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1057519749 21 34880580 376021 C T . . ALLELEID=362900;CLNDISDB=Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Acute_myeloid_leukemia|Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880580C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1057519750 21 34880581 376022 T C . . ALLELEID=362901;CLNDISDB=Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED_CT:17788007|Human_Phenotype_Ontology:HP:0011869,MedGen:C0855740|MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Acute_myeloid_leukemia|Abnormal_platelet_function|Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880581T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=3;RS=1057519751 21 34880598 14471 G T . . ALLELEID=29510;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880598G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:1023c045-33cc-4c4b-9297-ea4832be8def|OMIM_Allelic_Variant:151385.0010;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267607026 21 34880615 14470 GGCTGCGGT G . . ALLELEID=29509;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880616_34880623del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:029c6661-002e-49de-a67f-e2903b825e5b|OMIM_Allelic_Variant:151385.0009;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587776811 21 34880621 339877 G A . . AF_EXAC=0.00007;ALLELEID=346405;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880621G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:153558|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:2a26c020-4ebb-4160-a16b-4c5b8b5b9440;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773689002 21 34880640 561238 G GC . . ALLELEID=552382;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34880642dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:9a538152-2ada-41e8-9f16-2172b1c46648;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569079076 21 34880642 463996 C T . . AF_EXAC=0.00002;ALLELEID=470646;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880642C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:9ab1d255-0f11-4b19-833a-9c710a8ecc4e;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=745649956 21 34880665 14468 C G . . ALLELEID=29507;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880665C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:d5e03ae0-3ff2-428d-87e3-ae93412f6bf1|OMIM_Allelic_Variant:151385.0006;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=74315451 21 34880674 463994 T C . . ALLELEID=471189;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880674T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:1030c6f6-46f9-4881-bc0c-32d4bcfd2b33;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555898641 21 34880698 429813 C G . . AF_ESP=0.00008;ALLELEID=422354;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34880698C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:7e5378c7-f9d9-470d-9323-32fe9a5a69f7;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373498347 21 34880714 14463 C A . . ALLELEID=29502;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34880714C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:582e74ff-583d-43ab-9de0-41f6d60d889b|OMIM_Allelic_Variant:151385.0001;GENEINFO=RUNX1:861;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587776809 21 34880714 436616 C T . . ALLELEID=430421;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34880714C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:bacb4dd5-65e9-43dd-9c45-b3d9b6a59f6d;GENEINFO=RUNX1:861;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587776809 21 34886828 258185 T C . . AF_ESP=0.00408;AF_EXAC=0.00532;AF_TGP=0.00240;ALLELEID=257458;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified;CLNHGVS=NC_000021.9:g.34886828T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:252957|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:94e6e157-486c-4c38-a2be-d9aa1387bd45;GENEINFO=RUNX1:861;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199881885 21 34886842 409822 C G . . ALLELEID=403732;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34886842C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:5671cfda-4808-4020-8702-22f1816745bd;GENEINFO=RUNX1:861;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1060502579 21 34886842 561236 C T . . ALLELEID=552384;CLNDISDB=Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Thrombocytopenia|Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34886842C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1060502579 21 34886859 869209 AG A . . ALLELEID=857424;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34886862del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:5d2d9965-bde0-4928-a52c-ecfdb6b61291;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=2057997486 21 34886863 532671 T C . . ALLELEID=533856;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34886863T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:1823619f-a990-4590-a95b-0a7edb3671c1;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555899722 21 34886866 14465 T C . . ALLELEID=29504;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34886866T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:151385.0003|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:37efba9c-0430-4e4f-a3ce-fc8c501d717a;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121912498 21 34886878 436617 A T . . ALLELEID=430422;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified;CLNHGVS=NC_000021.9:g.34886878A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:8f98e7f4-4645-4121-8da3-bcf507754b5c;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1555899735 21 34886879 666274 G T . . ALLELEID=653831;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome;CLNHGVS=NC_000021.9:g.34886879G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:f6a20713-2a4b-4e08-91db-86f46749c256;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1601528621 21 34886880 561233 T G . . ALLELEID=552387;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34886880T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:42a3f999-4991-4180-8cb2-0e8975c5e5bb;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1569084116 21 34886935 436618 C A . . AF_EXAC=0.00001;AF_TGP=0.00020;ALLELEID=430423;CLNDISDB=MONDO:MONDO:0018702,MedGen:C4552543,Orphanet:ORPHA457077|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374|MedGen:CN517202;CLNDN=TAFRO_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified|not_provided;CLNHGVS=NC_000021.9:g.34886935C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:9b53e7f3-6c92-4c63-95f0-3c9f51ca59e4;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=561166961 21 34886941 14469 G T . . AF_EXAC=0.00003;ALLELEID=29508;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:C1835434|MedGen:C1860788;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|Leukemia,_acute_myeloid,_m0_subtype|Transient_myeloproliferative_disorder_of_Down_syndrome;CLNHGVS=NC_000021.9:g.34886941G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:151385.0008|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:c3870801-0fcc-45c8-9383-0ae10065097d;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121912500 21 34886952 561230 ACC A . . ALLELEID=552390;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34886953_34886954del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:e51a9323-787c-4449-b2e7-f05afb4a89ed;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569084388 21 34886970 561229 TCGCCGCTCCTCAGCTTGCCGGCCAGGGCAGCGCCGGCGTCCGGGGCGCCCAGC T . . ALLELEID=552391;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34886971_34887023del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569084451 21 34886975 532675 G A . . ALLELEID=533873;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34886975G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:f328f465-a8c2-4bc8-baee-39f4c9263b8a;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1157495777 21 34886977 463988 T TCC . . ALLELEID=471192;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34886978_34886979dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Invitae:2265960|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:1d884ce0-9d6e-40e7-a2aa-6f0ff56bae4c;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555899813 21 34886989 463990 C G . . AF_EXAC=0.00005;ALLELEID=471193;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34886989C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=777168865 21 34887000 571388 G GCGCCGGCGTCCGGGGCGCCCAGCGGCAA . . ALLELEID=573118;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34887005_34887032dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569084530 21 34887011 212088 C T . . AF_ESP=0.00412;AF_EXAC=0.00125;AF_TGP=0.00479;ALLELEID=208713;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified;CLNHGVS=NC_000021.9:g.34887011C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=76558016 21 34887014 463987 G A . . AF_ESP=0.00008;AF_EXAC=0.00001;ALLELEID=471194;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34887014G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375562861 21 34887015 463986 G A . . AF_EXAC=0.00004;ALLELEID=470649;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34887015G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765314703 21 34887027 239045 A G . . AF_ESP=0.01059;AF_EXAC=0.01629;AF_TGP=0.01038;ALLELEID=243617;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374|MedGen:CN517202;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified|not_provided;CLNHGVS=NC_000021.9:g.34887027A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:36a19c90-310a-4c8f-ad1d-8f186170daaa|Illumina_Laboratory_Services,Illumina:116151;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=111527738 21 34887029 532681 C T . . ALLELEID=533875;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34887029C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:01e24f51-2715-4a65-be17-9adaa7b8d808;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766206710 21 34887034 561228 CG C . . ALLELEID=552392;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|not_provided;CLNHGVS=NC_000021.9:g.34887035del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:c87368df-0745-4c45-8410-;GENEINFO=RUNX1:861;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1569084646 21 34887039 239044 A T . . AF_ESP=0.00047;AF_EXAC=0.00021;ALLELEID=243618;CLNDISDB=MONDO:MONDO:0016700,MedGen:C0280788,Orphanet:ORPHA251646|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN169374|MedGen:CN517202;CLNDN=Anaplastic_ependymoma|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_specified|not_provided;CLNHGVS=NC_000021.9:g.34887039A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:4ceacdfa-56c1-4933-a48a-f8c97e4f92e9;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200431130 21 34887050 239043 G A . . AF_ESP=0.00110;AF_EXAC=0.00388;AF_TGP=0.00140;ALLELEID=243619;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399|MedGen:CN517202;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy|not_provided;CLNHGVS=NC_000021.9:g.34887050G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:287162;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=147889692 21 34887083 532683 G A . . ALLELEID=533867;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34887083G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:7d5daf11-a43e-4d62-924a-f3cf45a73b5c;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1555899908 21 34887089 575051 G A . . ALLELEID=573128;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34887089G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1569084817 21 34892921 339878 A C . . AF_EXAC=0.00003;ALLELEID=350638;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34892921A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:174713|ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:bdea36eb-db13-4ea7-9d70-efa5d6e16c01;GENEINFO=RUNX1:861;MC=SO:0001627|intron_variant;ORIGIN=1;RS=754042987 21 34892926 415836 G A . . AF_EXAC=0.00002;ALLELEID=403738;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34892926G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:926bc384-fd5c-49ea-87e3-7f2d0b6ab223;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748758482 21 34892957 464002 A T . . AF_EXAC=0.00019;ALLELEID=469605;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.34892957A>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:6426c4e0-697d-4b39-a0dd-56f81c978e1a;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=749430925 21 35048846 650319 C A . . AF_ESP=0.00008;AF_EXAC=0.00003;ALLELEID=648982;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.35048846C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371736038 21 35048864 239048 C T . . AF_TGP=0.00020;ALLELEID=243620;CLNDISDB=MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:ORPHA71290|MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome|Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.35048864C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:9ccc823a-e760-436c-a8d0-5597cbf6853d;GENEINFO=RUNX1:861;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201490575 21 35048882 463989 T C . . AF_EXAC=0.00014;ALLELEID=469611;CLNDISDB=MONDO:MONDO:0100083,MedGen:C1832388,OMIM:601399;CLNDN=Familial_platelet_disorder_with_associated_myeloid_malignancy;CLNHGVS=NC_000021.9:g.35048882T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Myeloid_Malignancy_Variant_Curation_Expert_Panel:ff29e264-e204-4efc-bb2e-f3f16e5d88d0;GENEINFO=RUNX1:861;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199929612 21 45537880 157588 T C . . AF_ESP=0.50932;AF_EXAC=0.57697;AF_TGP=0.48862;ALLELEID=167450;CLNDISDB=Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890|MedGen:CN236565;CLNDN=Gastrointestinal_stromal_tumor|methotrexate_response_-_Efficacy;CLNHGVS=NC_000021.9:g.45537880T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P41440#VAR_020210;GENEINFO=SLC19A1:6573;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1051266 X 18507155 918032 G T . . ALLELEID=906351;CLNDISDB=MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942;CLNDN=Angelman_syndrome|Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder;CLNHGVS=NC_000023.11:g.18507155G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:b09d88a5-341c-4085-be46-89ee10c7cf6f;GENEINFO=CDKL5:6792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=786204962 X 18510816 434661 A G . . AF_EXAC=0.00001;ALLELEID=430756;CLNDISDB=MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN169374;CLNDN=CDKL5_disorder|not_specified;CLNHGVS=NC_000023.11:g.18510816A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:485aaa97-b63b-484e-918a-fc3528fc11d3;GENEINFO=CDKL5:6792;MC=SO:0001627|intron_variant;ORIGIN=1;RS=777490768 X 18564496 11502 C T . . ALLELEID=26541;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:ORPHA3095|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|Atypical_Rett_syndrome|CDKL5_disorder|Angelman_syndrome-like|not_provided;CLNHGVS=NC_000023.11:g.18564496C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:300203.0009|Génétique_des_Maladies_du_Développement,_Hospices_Civils_de_Lyon:16A6607|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:0e323081-868b-43b4-974c-8893a942d274|UniProtKB_(protein):O76039#VAR_058022|RettBASE_(CDKL5):44;GENEINFO=CDKL5:6792;MC=SO:0001583|missense_variant;ORIGIN=33;RS=122460159 X 18575353 158179 G A . . ALLELEID=170097;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|not_provided;CLNHGVS=NC_000023.11:g.18575353G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:0305323e-a1e9-44ca-a970-405bbb93be98;GENEINFO=CDKL5:6792;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=587783399 X 18575388 94107 G A . . AF_EXAC=0.00062;AF_TGP=0.00132;ALLELEID=100007;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN169374;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|Angelman_syndrome-like|not_specified;CLNHGVS=NC_000023.11:g.18575388G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:366fe5fb-49b5-47f1-8b83-008f62074465;GENEINFO=CDKL5:6792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=148697943 X 18575423 11503 T C . . ALLELEID=26542;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|Rett_syndrome|CDKL5_disorder|Angelman_syndrome-like|not_provided;CLNHGVS=NC_000023.11:g.18575423T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:52d0dedf-0fba-4aeb-b0db-0185cef7c6dd|RettBASE_(CDKL5):87|UniProtKB_(protein):O76039#VAR_058024|OMIM_Allelic_Variant:300203.0010|HGMD:CM092314;GENEINFO=CDKL5:6792;MC=SO:0001583|missense_variant;ORIGIN=33;RS=62641235 X 18584312 143822 C A . . ALLELEID=153554;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|not_provided;CLNHGVS=NC_000023.11:g.18584312C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=RettBASE_(CDKL5):195|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:97f599c7-1e02-4611-ad6e-421907114ae2;GENEINFO=CDKL5:6792;MC=SO:0001587|nonsense;ORIGIN=33;RS=267608490 X 18584332 94113 G A . . ALLELEID=100013;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|Angelman_syndrome-like|not_provided;CLNHGVS=NC_000023.11:g.18584332G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=HGMD:CM118357|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:1bf4c21f-9836-4b36-9366-021907530816|RettBASE_(CDKL5):132|UniProtKB_(protein):O76039#VAR_071103;GENEINFO=CDKL5:6792;MC=SO:0001583|missense_variant;ORIGIN=33;RS=267606715 X 18587977 143826 A G . . ALLELEID=153558;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|not_provided;CLNHGVS=NC_000023.11:g.18587977A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=RettBASE_(CDKL5):194|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:ca9cd59d-d8f3-466f-a2e9-fa39541401c8;GENEINFO=CDKL5:6792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267608500 X 18604120 143770 A C . . AF_EXAC=0.00001;ALLELEID=153502;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:ORPHA3095|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|Atypical_Rett_syndrome|CDKL5_disorder|not_provided;CLNHGVS=NC_000023.11:g.18604120A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:a8ba6a85-7562-4d1c-8dc4-0145eb331856|UniProtKB_(protein):O76039#VAR_058030|RettBASE_(CDKL5):85;GENEINFO=CDKL5:6792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267608611 X 18604131 423029 C CCA . . ALLELEID=411222;CLNDISDB=MONDO:MONDO:0100039,MedGen:CN296942|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=CDKL5_disorder|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000023.11:g.18604133AC[3];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:22973cbf-64a1-4e30-9dbf-9c3f3682b6c3;GENEINFO=CDKL5:6792;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1555951981 X 18604158 423898 A G . . AF_EXAC=0.00001;ALLELEID=411223;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|Angelman_syndrome-like|not_provided;CLNHGVS=NC_000023.11:g.18604158A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:e9ae730b-09c8-4a77-977e-f285e9b2c990;GENEINFO=CDKL5:6792;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770340766 X 18604168 189554 CAG C . . ALLELEID=187611;CLNDISDB=Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MeSH:D030342,MedGen:C0950123|MedGen:CN128785|MedGen:CN517202;CLNDN=Epileptic_encephalopathy|Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|Inborn_genetic_diseases|Angelman_syndrome-like|not_provided;CLNHGVS=NC_000023.11:g.18604169AG[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Microsatellite;CLNVCSO=SO:0000289;CLNVI=Invitae:4965729|RettBASE_(CDKL5):169|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:933d9c7c-3865-4a89-9a0a-565d7134d1a8;GENEINFO=CDKL5:6792;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=786204967 X 18604218 434662 AAGT A . . ALLELEID=430757;CLNDISDB=MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN169374;CLNDN=CDKL5_disorder|not_specified;CLNHGVS=NC_000023.11:g.18604220_18604222del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:99372a9a-2138-4096-9af1-33d081eda9ba;GENEINFO=CDKL5:6792;MC=SO:0001820|inframe_indel;ORIGIN=1;RS=1555951997 X 18625196 258978 C T . . AF_ESP=0.00038;AF_EXAC=0.00014;AF_TGP=0.00026;ALLELEID=257790;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN169374|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|Angelman_syndrome-like|not_specified|not_provided;CLNHGVS=NC_000023.11:g.18625196C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:6d433d86-063b-4149-9c07-abb30a1f5bc2;GENEINFO=CDKL5:6792;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371902632 X 18650508 210646 G A . . AF_EXAC=0.00002;ALLELEID=208993;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN169374|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|Angelman_syndrome-like|not_specified|not_provided;CLNHGVS=NC_000023.11:g.18650508G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:6358edd6-1663-4d8a-9784-64f135a14164;GENEINFO=RS1:6247|CDKL5:6792;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=747799506 X 18650520 143812 C T . . AF_EXAC=0.00001;ALLELEID=153544;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0017746,MedGen:C2748910,Orphanet:ORPHA3095|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN517202;CLNDN=Early_infantile_epileptic_encephalopathy_2|Atypical_Rett_syndrome|CDKL5_disorder|Angelman_syndrome-like|not_provided;CLNHGVS=NC_000023.11:g.18650520C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=RettBASE_(CDKL5):99|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:d1466290-ae92-4343-88ba-88e98b897c23;GENEINFO=RS1:6247|CDKL5:6792;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=267608665 X 18650539 156694 C T . . AF_EXAC=0.00005;ALLELEID=166548;CLNDISDB=MONDO:MONDO:0010396,MedGen:C4750718,OMIM:300672,Orphanet:ORPHA505652|MONDO:MONDO:0100039,MedGen:CN296942|MedGen:CN128785|MedGen:CN169374;CLNDN=Early_infantile_epileptic_encephalopathy_2|CDKL5_disorder|Angelman_syndrome-like|not_specified;CLNHGVS=NC_000023.11:g.18650539C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=RettBASE_(CDKL5):186|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:68b2dec4-9be9-413d-8245-733323b08447;GENEINFO=RS1:6247|CDKL5:6792;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=33;RS=587783161 X 19350033 214938 C T . . ALLELEID=212004;CLNDISDB=MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000023.11:g.19350033C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P08559#VAR_004949;GENEINFO=PDHA1:5160;MC=SO:0001583|missense_variant;ORIGIN=1;RS=863224148 X 19353169 214941 C T . . ALLELEID=212009;CLNDISDB=MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007|MedGen:CN517202;CLNDN=Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency|not_provided;CLNHGVS=NC_000023.11:g.19353169C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:dc5261dd-3db5-4b9d-a01b-0c4006234082;GENEINFO=PDHA1:5160;MC=SO:0001583|missense_variant;ORIGIN=1;RS=863224150 X 19355721 92772 A G . . AF_ESP=0.32462;AF_EXAC=0.13389;AF_TGP=0.30464;ALLELEID=98679;CLNDISDB=MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000023.11:g.19355721A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Laboratory_Services,Illumina:873117;GENEINFO=PDHA1:5160;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1126565 X 19357659 655703 T G . . ALLELEID=649926;CLNDISDB=MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007;CLNDN=Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency;CLNHGVS=NC_000023.11:g.19357659T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:b9bde7c4-6fe2-4b39-b2df-05689181e6be;GENEINFO=PDHA1:5160;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1602229682 X 19357664 10885 A C . . AF_EXAC=0.02070;AF_TGP=0.04954;ALLELEID=25924;CLNDISDB=MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000023.11:g.19357664A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P08559#VAR_021054|ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:9b20eee9-ea40-4e89-b0d2-b35d745e803a|Illumina_Laboratory_Services,Illumina:928508|OMIM_Allelic_Variant:300502.0015;GENEINFO=PDHA1:5160;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2229137 X 19358926 214935 C T . . ALLELEID=212014;CLNDISDB=MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007|MedGen:CN517202;CLNDN=Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency|not_provided;CLNHGVS=NC_000023.11:g.19358926C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Génétique_des_Maladies_du_Développement,_Hospices_Civils_de_Lyon:15A3946;GENEINFO=PDHA1:5160;MC=SO:0001587|nonsense;ORIGIN=33 X 19359015 378343 A C . . AF_ESP=0.00161;AF_EXAC=0.00045;AF_TGP=0.00079;ALLELEID=379278;CLNDISDB=MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007|MedGen:C2711754|MedGen:CN169374;CLNDN=Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency|History_of_neurodevelopmental_disorder|not_specified;CLNHGVS=NC_000023.11:g.19359015A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Mitochondrial_Disease_Nuclear_and_Mitochondrial__Variant_Curation_Expert_Panel,ClinGen:b000cfe0-fa2b-4a64-89d9-917fee0b821c;GENEINFO=PDHA1:5160;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2228067 X 19359612 214936 C T . . ALLELEID=212019;CLNDISDB=EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120,SNOMED_CT:51178009|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007|MedGen:CN517202;CLNDN=SUDDEN_INFANT_DEATH_SYNDROME|Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency|not_provided;CLNHGVS=NC_000023.11:g.19359612C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Center_of_Genomic_medicine,_Geneva,University_Hospital_of_Geneva:5_July_2017|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_548;GENEINFO=PDHA1:5160;MC=SO:0001583|missense_variant;ORIGIN=33;RS=863224147 X 19359619 10880 C CCAAT . . ALLELEID=25919;CLNDISDB=MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170,Orphanet:ORPHA79243|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:ORPHA765,SNOMED_CT:46683007|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=Pyruvate_dehydrogenase_E1-alpha_deficiency|Pyruvate_dehydrogenase_complex_deficiency|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000023.11:g.19359622_19359625dup;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=OMIM_Allelic_Variant:300502.0010|Illumina_Laboratory_Services,Illumina:1727709;GENEINFO=PDHA1:5160;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=606231189 X 135985504 383439 T G . . ALLELEID=378886;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN517202;CLNDN=Christianson_syndrome|not_provided;CLNHGVS=NC_000023.11:g.135985504T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:edd71aa4-4781-4084-94db-45b76d126d9a;GENEINFO=SLC9A6:10479;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=1006154022 X 135985527 159933 G T . . AF_EXAC=0.00781;AF_TGP=0.00053;ALLELEID=169937;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Christianson_syndrome|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000023.11:g.135985527G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:b32cef3b-1a71-4c9f-9ec6-004e6cc38d60;GENEINFO=SLC9A6:10479;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=201523857 X 135985639 429629 G A . . AF_EXAC=0.00001;ALLELEID=422416;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN517202;CLNDN=Christianson_syndrome|not_provided;CLNHGVS=NC_000023.11:g.135985639G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:1ed59d6e-bfa4-49bc-b625-0b74b39858b3;GENEINFO=SLC9A6:10479;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=782736274 X 135985650 207247 G T . . AF_ESP=0.00019;AF_EXAC=0.00006;ALLELEID=203981;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN517202;CLNDN=Christianson_syndrome|not_provided;CLNHGVS=NC_000023.11:g.135985650G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:e27a7c99-bde5-458e-882c-e89717bc9221;GENEINFO=SLC9A6:10479;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=367724979 X 135985655 389505 A G . . AF_EXAC=0.00010;AF_TGP=0.00106;ALLELEID=379920;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN169374|MedGen:CN517202;CLNDN=Christianson_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.135985655A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:81b0a730-704f-4747-b373-6126b5702767;GENEINFO=SLC9A6:10479;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=782090744 X 135985673 379120 C G . . AF_EXAC=0.00003;ALLELEID=377787;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN517202;CLNDN=Christianson_syndrome|not_provided;CLNHGVS=NC_000023.11:g.135985673C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:49d2f73b-f691-4301-b4ad-d1ad231e5274;GENEINFO=SLC9A6:10479;MC=SO:0001583|missense_variant;ORIGIN=1;RS=782296172 X 135998481 167702 G A . . ALLELEID=178080;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN517202;CLNDN=Christianson_syndrome|not_provided;CLNHGVS=NC_000023.11:g.135998481G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:217ba976-d6f6-4342-b89a-dec9dfc194f7;GENEINFO=SLC9A6:10479;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=797044508 X 135998521 207239 G A . . ALLELEID=203988;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN517202;CLNDN=Christianson_syndrome|not_provided;CLNHGVS=NC_000023.11:g.135998521G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:8f2ff5f7-85a1-40c8-9cc2-708b3fd42382;GENEINFO=SLC9A6:10479;MC=SO:0001583|missense_variant;ORIGIN=1;RS=796053281 X 135998550 469637 C T . . ALLELEID=472065;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN169374;CLNDN=Christianson_syndrome|not_specified;CLNHGVS=NC_000023.11:g.135998550C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:80930d02-04a4-47cd-bd49-a427b39b4670;GENEINFO=SLC9A6:10479;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1423014570 X 136012979 95378 C T . . ALLELEID=101277;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN517202;CLNDN=Christianson_syndrome|not_provided;CLNHGVS=NC_000023.11:g.136012979C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:80d7ccbd-f35d-44d7-948b-78fb99a442a0;GENEINFO=SLC9A6:10479;MC=SO:0001587|nonsense;ORIGIN=1;RS=398124224 X 136033411 139206 C T . . AF_EXAC=0.00110;AF_TGP=0.00185;ALLELEID=142909;CLNDISDB=MONDO:MONDO:0010278,MedGen:C2678194,OMIM:300243,Orphanet:ORPHA85278|MedGen:CN169374|MedGen:CN517202;CLNDN=Christianson_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.136033411C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:7baa86cb-8d45-4b9d-b456-eb9cc14e2ec9;GENEINFO=SLC9A6:10479;MC=SO:0001627|intron_variant;ORIGIN=1;RS=563279759 X 154030381 133342 C A . . ALLELEID=137081;CLNDISDB=MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Autism,_susceptibility_to,_X-linked_3|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030381C>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:300005.0039|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:62d4086b-b03e-43a3-b2c6-2993d86a62a8;GENEINFO=MECP2:4204;MC=SO:0001587|nonsense;ORIGIN=1;RS=587777421 X 154030398 143475 C G . . ALLELEID=153207;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified;CLNHGVS=NC_000023.11:g.154030398C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267608328 X 154030489 143465 C T . . AF_EXAC=0.00007;AF_TGP=0.00026;ALLELEID=153197;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154030489C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=25;RS=267608626 X 154030614 143438 G A . . AF_EXAC=0.00001;ALLELEID=153170;CLNDISDB=MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Mental_retardation,_X-linked,_syndromic_13|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030614G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Génétique_des_Maladies_du_Développement,_Hospices_Civils_de_Lyon:16A2267;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=49;RS=61753016 X 154030620 143406 GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT G . . ALLELEID=153138;CLNDISDB=.|Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644|Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658|Human_Phenotype_Ontology:HP:0006957,MedGen:C1849097|MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orphanet:ORPHA1762|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MeSH:D030342,MedGen:C0950123|MedGen:C2677682|MedGen:CN169374|MedGen:CN238491|MedGen:CN517202;CLNDN=See_cases|Delayed_speech_and_language_development|Delayed_gross_motor_development|Loss_of_ability_to_walk|Mental_retardation,_X-linked,_syndromic_13|Syndromic_X-linked_intellectual_disability_Lubs_type|Autism,_susceptibility_to,_X-linked_3|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|Inborn_genetic_diseases|Rett_syndrome,_zappella_variant|not_specified|Smith-Magenis_Syndrome-like|not_provided;CLNHGVS=NC_000023.11:g.154030627_154030670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab),_CHU_de_Nantes:CLIN291|Invitae:870130|Centre_for_Mendelian_Genomics,University_Medical_Centre_Ljubljana:CMGVARID00607|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:234c54c2-8825-49ba-9156-a14d379d903e|OMIM_Allelic_Variant:300005.0014|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2045427|MECP2_@_LOVD:MECP2_000185|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_118|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1783931;GENEINFO=MECP2:4204;MC=SO:0001589|frameshift_variant;ORIGIN=53;RS=61752992 X 154030648 143421 C T . . AF_ESP=0.00010;AF_EXAC=0.00002;ALLELEID=153153;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified;CLNHGVS=NC_000023.11:g.154030648C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:cb6d3431-d972-4851-bc8e-700dee1752ff|UniProtKB_(protein):P51608#VAR_018219;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=25;RS=63094662 X 154030648 143396 CGGGCTCAGGTGGAGGTGG C . . ALLELEID=153128;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154030653_154030670del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MECP2:4204;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=267608406 X 154030656 156616 GGTGGAGGTGGGGGCAGGGGTGGGAGCA G . . ALLELEID=166470;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030661_154030687del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:ed1ff5b9-300b-487d-8b4e-f7b18aa9de17;GENEINFO=MECP2:4204;MC=SO:0001822|inframe_deletion;ORIGIN=1;RS=587783094 X 154030664 197244 T G . . ALLELEID=194405;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030664T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=797044732 X 154030665 143398 G A . . ALLELEID=153130;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030665G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P51608#VAR_023559;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=33;RS=61753006 X 154030666 143393 G A . . ALLELEID=153125;CLNDISDB=Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Intellectual_disability|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030666G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P51608#VAR_018218;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=49;RS=61753000 X 154030668 143383 G A . . AF_EXAC=0.00004;AF_TGP=0.00026;ALLELEID=153115;CLNDISDB=MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN517202;CLNDN=Mental_retardation,_X-linked,_syndromic_13|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154030668G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=17;RS=63390262 X 154030688 138194 C T . . AF_ESP=0.00029;AF_EXAC=0.00011;AF_TGP=0.00053;ALLELEID=141897;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154030688C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:7277ad9e-b07e-4eeb-a2db-80b1b1fe619f;GENEINFO=MECP2:4204;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201711454 X 154030690 143344 C T . . AF_ESP=0.00019;AF_EXAC=0.00028;AF_TGP=0.00026;ALLELEID=153076;CLNDISDB=MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Mental_retardation,_X-linked,_syndromic_13|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030690C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267608572 X 154030798 143309 G A . . AF_ESP=0.00009;AF_EXAC=0.00003;ALLELEID=153041;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030798G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:21ffb64d-8c26-49f1-b485-49b92c825bfc|UniProtKB_(protein):P51608#VAR_018214;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=17;RS=61752361 X 154030822 156628 G C . . ALLELEID=166482;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154030822G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587783104 X 154030912 11824 G A . . ALLELEID=26863;CLNDISDB=Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|MONDO:MONDO:0007113,MedGen:C0162635,OMIM:105830,Orphanet:ORPHA72,SNOMED_CT:76880004|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN235283|MedGen:CN517202;CLNDN=Intellectual_disability|Angelman_syndrome|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|none_provided|not_provided;CLNHGVS=NC_000023.11:g.154030912G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:306280ba-f29e-479c-a220-4d3eb2bc93d9|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab),_CHU_de_Nantes:CLIN0132|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_varv_593|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1785494|HGMD:CM993354|UniProtKB_(protein):P51608#VAR_010282|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:113536|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MECP2-A10|OMIM_Allelic_Variant:300005.0016;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=33;RS=28935468 X 154030948 11819 G A . . ALLELEID=26858;CLNDISDB=.|MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orphanet:ORPHA1762|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MeSH:D030342,MedGen:C0950123|MedGen:CN517202;CLNDN=See_cases|Mental_retardation,_X-linked,_syndromic_13|Syndromic_X-linked_intellectual_disability_Lubs_type|Autism,_susceptibility_to,_X-linked_3|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|Inborn_genetic_diseases|not_provided;CLNHGVS=NC_000023.11:g.154030948G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:ede88874-946c-4213-9897-197e908f3c6d|Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MECP2-A9|OMIM_Allelic_Variant:300005.0011|Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_149|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1784544|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:25679|HGMD:CM000750;GENEINFO=MECP2:4204;MC=SO:0001587|nonsense;ORIGIN=33;RS=61751362 X 154030949 156671 G C . . ALLELEID=166525;CLNDISDB=Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,Human_Phenotype_Ontology:HP:HP:0001249,MONDO:MONDO:0001071,MedGen:C3714756,SNOMED_CT:228156007|Human_Phenotype_Ontology:HP:0025356,MedGen:C0424230|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:C4305438|MedGen:CN517202;CLNDN=Microcephaly|Intellectual_disability|Psychomotor_retardation|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|Severe_underweight_in_infancy_childhood_and_adolescence|not_provided;CLNHGVS=NC_000023.11:g.154030949G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=33;RS=587783140 X 154030969 143716 C G . . AF_ESP=0.00009;AF_EXAC=0.00003;ALLELEID=153448;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified;CLNHGVS=NC_000023.11:g.154030969C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P51608#VAR_018204;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61750257 X 154031021 95202 GC G . . ALLELEID=101102;CLNDISDB=MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orphanet:ORPHA1762|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MeSH:D030342,MedGen:C0950123|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Mental_retardation,_X-linked,_syndromic_13|Syndromic_X-linked_intellectual_disability_Lubs_type|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|Inborn_genetic_diseases|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154031025del;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Center_for_Human_Genetics,_Inc,Center_for_Human_Genetics,_Inc:MECP2-A3|CHEO_Genetics_Diagnostic_Laboratory,Children's_Hospital_of_Eastern_Ontario:1784588|HGMD:CD993407|OMIM_Allelic_Variant:300005.0003|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:1e897fde-76a7-45dc-8f7f-6e1191668335|Invitae:846224|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:113533;GENEINFO=MECP2:4204;MC=SO:0001589|frameshift_variant;ORIGIN=49;RS=61750241 X 154031026 143700 G A . . AF_ESP=0.00009;AF_EXAC=0.00001;ALLELEID=153432;CLNDISDB=MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orphanet:ORPHA1762|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Mental_retardation,_X-linked,_syndromic_13|Syndromic_X-linked_intellectual_disability_Lubs_type|Autism,_susceptibility_to,_X-linked_3|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031026G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61750239 X 154031079 143679 C T . . ALLELEID=153411;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154031079C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant;ORIGIN=9;RS=61750227 X 154031220 95198 G A . . AF_ESP=0.00038;AF_EXAC=0.00065;AF_TGP=0.00026;ALLELEID=101098;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154031220G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:49670d6c-9ef7-465b-a280-333556f92e42|UniProtKB_(protein):P51608#VAR_018196;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=9;RS=61749720 X 154031260 156667 G A . . AF_EXAC=0.00001;ALLELEID=166521;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031260G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587783137 X 154031300 143612 G C . . AF_EXAC=0.00006;ALLELEID=153344;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031300G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=61754420 X 154031356 143590 T C . . ALLELEID=153322;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031356T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P51608#VAR_023557;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=33;RS=61748411 X 154031361 143583 T C . . ALLELEID=153315;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MeSH:D030342,MedGen:C0950123;CLNDN=Rett_syndrome|Inborn_genetic_diseases;CLNHGVS=NC_000023.11:g.154031361T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P51608#VAR_018191;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=33;RS=61748407 X 154031373 143579 G C . . ALLELEID=153311;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154031373G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P51608#VAR_010280|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:12661;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=33;RS=61748404 X 154031374 11844 G C . . ALLELEID=26883;CLNDISDB=MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010283,MedGen:C1846058,OMIM:300260,Orphanet:ORPHA1762|MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:C2677682|MedGen:CN517202;CLNDN=Mental_retardation,_X-linked,_syndromic_13|Syndromic_X-linked_intellectual_disability_Lubs_type|Autism,_susceptibility_to,_X-linked_3|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|Rett_syndrome,_zappella_variant|not_provided;CLNHGVS=NC_000023.11:g.154031374G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:692d4de8-21e1-4102-8ec2-4da4b8d9c892|OMIM_Allelic_Variant:300005.0036;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=25;RS=179363900 X 154031376 143578 T C . . ALLELEID=153310;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome;CLNHGVS=NC_000023.11:g.154031376T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:b6d47811-23c9-458c-b9ae-f33311d4bb97;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=61748403 X 154031390 143574 G A . . ALLELEID=153306;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031390G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001819|synonymous_variant,SO:0001627|intron_variant;ORIGIN=1;RS=61748386 X 154031425 143564 T C . . ALLELEID=153296;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031425T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Institute_of_Human_Genetics,_University_of_Leipzig_Medical_Center:CV_407|UniProtKB_(protein):P51608#VAR_018190;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=61748391 X 154031427 143563 G A . . ALLELEID=153295;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031427G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=33;RS=61748390 X 154031430 143559 C T . . ALLELEID=153291;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031430C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P51608#VAR_018189;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=33;RS=61748389 X 154031435 143557 G C . . ALLELEID=153289;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:C2711754|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|History_of_neurodevelopmental_disorder|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154031435G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=61748385 X 154031448 143552 G A . . ALLELEID=153284;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome;CLNHGVS=NC_000023.11:g.154031448G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608387 X 154031453 522665 G A . . AF_EXAC=0.00002;ALLELEID=513391;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome;CLNHGVS=NC_000023.11:g.154031453G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Service_de_Génétique_Moléculaire,Hôpital_Robert_Debré:58912;GENEINFO=MECP2:4204;MC=SO:0001627|intron_variant;ORIGIN=5;RS=267608465 X 154031453 156068 G C . . ALLELEID=165864;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154031453G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:ebca151d-4737-4a75-b5f1-1cb0d64bae0f|ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:2196523;GENEINFO=MECP2:4204;MC=SO:0001627|intron_variant;ORIGIN=33;RS=267608465 X 154031456 236301 G C . . ALLELEID=237857;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154031456G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:33ec58c4-5da7-46bb-a761-b2be245c972b;GENEINFO=MECP2:4204;MC=SO:0001627|intron_variant;ORIGIN=1;RS=782482746 X 154032183 156055 G T . . AF_EXAC=0.00003;ALLELEID=165851;CLNDISDB=MONDO:MONDO:0010235,MedGen:C1968550,OMIM:300055,Orphanet:ORPHA3077|MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Mental_retardation,_X-linked,_syndromic_13|Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154032183G>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001627|intron_variant;ORIGIN=17;RS=267608462 X 154032189 156051 G C . . AF_TGP=0.00026;ALLELEID=165847;CLNDISDB=MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN517202;CLNDN=Autism,_susceptibility_to,_X-linked_3|Rett_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154032189G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001627|intron_variant;ORIGIN=1;RS=267608461 X 154032197 156059 TCTTA T . . ALLELEID=165855;CLNDISDB=MONDO:MONDO:0010342,MedGen:C1845336,OMIM:300496|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN235283|MedGen:CN517202;CLNDN=Autism,_susceptibility_to,_X-linked_3|Rett_syndrome|not_specified|none_provided|not_provided;CLNHGVS=NC_000023.11:g.154032201ACTT[1];CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=Microsatellite;CLNVCSO=SO:0000289;GENEINFO=MECP2:4204;MC=SO:0001575|splice_donor_variant;ORIGIN=33;RS=267608459 X 154032220 143546 C T . . ALLELEID=153278;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154032220C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=33;RS=267608455 X 154032241 143541 G A . . ALLELEID=153273;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:C2711754|MedGen:CN517202;CLNDN=Rett_syndrome|History_of_neurodevelopmental_disorder|not_provided;CLNHGVS=NC_000023.11:g.154032241G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=267608388 X 154032283 143524 G A . . ALLELEID=153256;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008;CLNDN=Rett_syndrome;CLNHGVS=NC_000023.11:g.154032283G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P51608#VAR_023554|ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:2b8ace0a-d687-49ca-a70c-e5ca323bc4b3;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=33;RS=61754452 X 154032289 859603 T G . . ALLELEID=849791;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome;CLNHGVS=NC_000023.11:g.154032289T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:53cbe232-7c99-4325-bff3-5a5ee6b4f5ec;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=2065984609 X 154032359 143505 C T . . ALLELEID=153237;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified;CLNHGVS=NC_000023.11:g.154032359C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=61754442 X 154032369 143501 G A . . AF_EXAC=0.00003;ALLELEID=153233;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified;CLNHGVS=NC_000023.11:g.154032369G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=61754440 X 154032416 143496 G A . . AF_ESP=0.00009;AF_EXAC=0.00027;ALLELEID=153228;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN169374|MedGen:CN517202;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome|not_specified|not_provided;CLNHGVS=NC_000023.11:g.154032416G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics,_ARUP_Laboratories:5795;GENEINFO=MECP2:4204;MC=SO:0001819|synonymous_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=61754435 X 154097602 503729 A C . . ALLELEID=495805;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154097602A>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ClinGen_Rett_and_Angelman-like_Disorders_Variant_Curation_Expert_Panel,_ClinGen:24ff2099-d294-442d-b5e4-c9a13d900acd;GENEINFO=MECP2:4204;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=1557150841 X 154097603 189776 C T . . ALLELEID=187559;CLNDISDB=MONDO:MONDO:0010397,MedGen:C1968556,OMIM:300673,Orphanet:ORPHA209370|MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008;CLNDN=Severe_neonatal-onset_encephalopathy_with_microcephaly|Rett_syndrome;CLNHGVS=NC_000023.11:g.154097603C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001575|splice_donor_variant;ORIGIN=33;RS=786205048 X 154097665 156661 T A . . ALLELEID=166515;CLNDISDB=MONDO:MONDO:0010726,MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED_CT:68618008|MedGen:CN517202;CLNDN=Rett_syndrome|not_provided;CLNHGVS=NC_000023.11:g.154097665T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MECP2:4204;MC=SO:0001582|initiatior_codon_variant,SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=587783132 MT 1095 9631 T C . . ALLELEID=24670;CLNDISDB=.|.|.|.|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008,Orphanet:ORPHA90641|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000,Orphanet:ORPHA168609|MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129|MedGen:CN169374;CLNDN=aminoglycoside_antibacterials_response_-_Toxicity|gentamicin_response_-_Toxicity|kanamycin_response_-_Toxicity|streptomycin_response_-_Toxicity|Deafness,_nonsyndromic_sensorineural,_mitochondrial|Aminoglycoside-induced_deafness|Auditory_neuropathy|not_specified;CLNHGVS=NC_012920.1:m.1095T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1444699743PA451704|PharmGKB:1444699743PA449753|PharmGKB:1444699743PA450137|PharmGKB:1444699743PA451512|PharmGKB:1444699743PA164744372|OMIM_Allelic_Variant:561000.0003|PharmGKB:1444699743|PharmGKB:1444699743PA450608|PharmGKB:1444699743PA452167;GENEINFO=MT-RNR1:4549;ORIGIN=1;RS=267606618 MT 1494 9632 C T . . ALLELEID=24671;CLNDISDB=.|.|.|.|.|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008,Orphanet:ORPHA90641|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000,Orphanet:ORPHA168609|MedGen:CN184225|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=aminoglycoside_antibacterials_response_-_Toxicity|gentamicin_response_-_Toxicity|kanamycin_response_-_Toxicity|streptomycin_response_-_Toxicity|tobramycin_response_-_Toxicity|Deafness,_nonsyndromic_sensorineural,_mitochondrial|Aminoglycoside-induced_deafness|Gentamicin_response|Rare_genetic_deafness;CLNHGVS=NC_012920.1:m.1494C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1444699308PA452167|PharmGKB:1444699308PA450137|Medical_Genetics_Summaries:m.1494C>T|PharmGKB:1444699308PA450608|PharmGKB:1444699308PA164744372|PharmGKB:1444699308PA451704|OMIM_Allelic_Variant:561000.0004|PharmGKB:1444699308PA449753|PharmGKB:1444699308|PharmGKB:1444699308PA451512;GENEINFO=MT-RNR1:4549|MT-TS1:4574;ORIGIN=17;RS=267606619 MT 1555 9628 A G . . ALLELEID=24667;CLNDISDB=.|.|.|.|.|.|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:ORPHA217632|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008,Orphanet:ORPHA90641|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000,Orphanet:ORPHA168609|MedGen:CN184225|MedGen:CN517202|MedGen:CN826980,Orphanet:ORPHA96210;CLNDN=amikacin_response_-_Toxicity|aminoglycoside_antibacterials_response_-_Toxicity|gentamicin_response_-_Toxicity|kanamycin_response_-_Toxicity|streptomycin_response_-_Toxicity|tobramycin_response_-_Toxicity|Restrictive_cardiomyopathy|Deafness,_nonsyndromic_sensorineural,_mitochondrial|Aminoglycoside-induced_deafness|Gentamicin_response|not_provided|Rare_genetic_deafness;CLNHGVS=NC_012920.1:m.1555A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=PharmGKB:1444608367|PharmGKB:1444608367PA450137|PharmGKB:1444608367PA452167|Medical_Genetics_Summaries:m.1555A>G|Donald_Williams_Parsons_Laboratory,Baylor_College_of_Medicine:298953_2|PharmGKB:1444608367PA449753|PharmGKB:1444608367PA164744372|PharmGKB:1444608367PA450608|PharmGKB:1444608367PA451704|PharmGKB:1444608367PA451512|OMIM_Allelic_Variant:561000.0001;GENEINFO=MT-ND1:4535|MT-RNR1:4549;ORIGIN=19;RS=267606617 MT 1644 689846 G A . . ALLELEID=677683;CLNDISDB=MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED_CT:39925003|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.1644G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-TV:4577;ORIGIN=1;RS=587776441 MT 3357 692343 G C . . ALLELEID=680879;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Leigh_syndrome|Mitochondrial_disease|not_provided;CLNHGVS=NC_012920.1:m.3357G>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ND1:4535;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1556422714 MT 4735 1328512 C G . . ALLELEID=1319161;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Mitochondrial_disease;CLNHGVS=NC_012920.1:m.4735C>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ND2:4536;MC=SO:0001583|missense_variant;ORIGIN=1 MT 5538 689930 G A . . ALLELEID=677767;CLNDISDB=MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED_CT:39925003|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.5538G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-TW:4578;ORIGIN=1;RS=1603220012 MT 5558 689941 A G . . ALLELEID=677778;CLNDISDB=MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED_CT:39925003|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.5558A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-TW:4578;ORIGIN=1;RS=370471013 MT 7092 1328511 T C . . ALLELEID=1319160;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Mitochondrial_disease;CLNHGVS=NC_012920.1:m.7092T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-CO1:4512;MC=SO:0001583|missense_variant;ORIGIN=1 MT 8344 9579 A G . . ALLELEID=24618;CLNDISDB=.|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED_CT:39925003|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000,Orphanet:ORPHA551|MONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=MT-TK-related_mitochondrial_disorder|Leigh_syndrome|Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|MERRF_syndrome|Parkinson_disease,_mitochondrial|Mitochondrial_disease|not_provided;CLNHGVS=NC_012920.1:m.8344A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:590060.0001|Undiagnosed_Diseases_Network,NIH:f0e49de6-1fde-4438-98ef-1a064a011a04_1;GENEINFO=MT-TK:4566;ORIGIN=17;RS=118192098 MT 8932 235343 C T . . ALLELEID=237030;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Leigh_syndrome|Mitochondrial_disease|not_provided;CLNHGVS=NC_012920.1:m.8932C>T;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ATP6:4508;MC=SO:0001583|missense_variant;ORIGIN=1;RS=878853013 MT 8936 1172526 T A . . ALLELEID=1161635;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Mitochondrial_disease;CLNHGVS=NC_012920.1:m.8936T>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ATP6:4508;MC=SO:0001583|missense_variant;ORIGIN=1 MT 8993 9642 T C . . ALLELEID=24681;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0010781,MedGen:C1838916,OMIM:500010|MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500,Orphanet:ORPHA644|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Leigh_syndrome|Ataxia_and_polyneuropathy,_adult-onset|NARP_syndrome|Mitochondrial_complex_v_(atp_synthase)_deficiency,_mitochondrial_type_1|Mitochondrial_disease|not_provided;CLNHGVS=NC_012920.1:m.8993T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:516060.0002;GENEINFO=MT-ATP6:4508;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199476133 MT 8993 9641 T G . . ALLELEID=24680;CLNDISDB=Human_Phenotype_Ontology:HP:0000046,MedGen:C0431659|Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400|Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234|Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714|Human_Phenotype_Ontology:HP:0000779,Human_Phenotype_Ontology:HP:0001554,Human_Phenotype_Ontology:HP:0006610,MedGen:C1827524|Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED_CT:58610003|Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:ORPHA102002,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526|Human_Phenotype_Ontology:HP:0002744,MedGen:C1398522|Human_Phenotype_Ontology:HP:0005651,Human_Phenotype_Ontology:HP:0005662,Human_Phenotype_Ontology:HP:0005713,Human_Phenotype_Ontology:HP:0005801,Human_Phenotype_Ontology:HP:0005821,Human_Phenotype_Ontology:HP:0006195,Human_Phenotype_Ontology:HP:0006218,Human_Phenotype_Ontology:HP:0006240,Human_Phenotype_Ontology:HP:0009698,Human_Phenotype_Ontology:HP:0100490,MedGen:C0409348|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500,Orphanet:ORPHA644|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Scrotal_hypoplasia|Hypertelorism|Low-set_ears|Rod-cone_dystrophy|Wide_intermamillary_distance|Leber_optic_atrophy|Postaxial_hand_polydactyly|Cerebellar_ataxia|Premature_birth|Bilateral_cleft_lip_and_palate|Camptodactyly_of_finger|Leigh_syndrome|NARP_syndrome|Mitochondrial_complex_v_(atp_synthase)_deficiency,_mitochondrial_type_1|Mitochondrial_disease|not_provided;CLNHGVS=NC_012920.1:m.8993T>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Centre_for_Mendelian_Genomics,University_Medical_Centre_Ljubljana:CMGVARID00017|Centre_for_Mendelian_Genomics,University_Medical_Centre_Ljubljana:CMGVARID00650|OMIM_Allelic_Variant:516060.0001;GENEINFO=MT-ATP6:4508;MC=SO:0001583|missense_variant;ORIGIN=49;RS=199476133 MT 9026 693058 G A . . ALLELEID=681594;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Leigh_syndrome|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.9026G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ATP6:4508;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1603221987 MT 9032 693061 T C . . ALLELEID=681597;CLNDISDB=Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:ORPHA102002,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0001272,Human_Phenotype_Ontology:HP:0002364,Human_Phenotype_Ontology:HP:0006839,Human_Phenotype_Ontology:HP:0007072,Human_Phenotype_Ontology:HP:0007203,MedGen:C0740279|Human_Phenotype_Ontology:HP:0001295,Human_Phenotype_Ontology:HP:0001309,Human_Phenotype_Ontology:HP:0001337,MedGen:C0040822|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Rod-cone_dystrophy|Cerebellar_ataxia|Cerebellar_atrophy|Tremor|Leigh_syndrome|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.9032T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ATP6:4508;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1603221994 MT 9055 693067 G A . . ALLELEID=681603;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Leigh_syndrome|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.9055G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ATP6:4508;MC=SO:0001583|missense_variant;ORIGIN=1;RS=193303045 MT 10158 9714 T C . . ALLELEID=24753;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0027068,MedGen:C4746992,OMIM:500014|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202;CLNDN=Leigh_syndrome|Mitochondrial_complex_1_deficiency,_mitochondrial_type_1|Mitochondrial_disease|not_provided;CLNHGVS=NC_012920.1:m.10158T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:516002.0003;GENEINFO=MT-ND3:4537;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199476117 MT 10172 1328510 G A . . ALLELEID=1319159;CLNDISDB=MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Mitochondrial_disease;CLNHGVS=NC_012920.1:m.10172G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ND3:4537;MC=SO:0001819|synonymous_variant;ORIGIN=1 MT 10455 690123 A G . . ALLELEID=677515;CLNDISDB=MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED_CT:39925003|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.10455A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-TR:4573;ORIGIN=1;RS=1603222840 MT 12544 693460 A G . . ALLELEID=680350;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Leigh_syndrome|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.12544A>G;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-ND5:4540;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1603223798 MT 13513 9702 G A . . ALLELEID=24741;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED_CT:39925003|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C1838951|MedGen:CN517202;CLNDN=Leigh_syndrome|Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|Mitochondrial_disease|Leigh_syndrome_due_to_mitochondrial_complex_I_deficiency|not_provided;CLNHGVS=NC_012920.1:m.13513G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:516005.0007;GENEINFO=MT-ND5:4540;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267606897 MT 14459 9689 G A . . ALLELEID=24728;CLNDISDB=Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED_CT:58610003|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C1838951;CLNDN=Leber_optic_atrophy|Leigh_syndrome|Leber_optic_atrophy_and_dystonia|Mitochondrial_disease|Leigh_syndrome_due_to_mitochondrial_complex_I_deficiency;CLNHGVS=NC_012920.1:m.14459G>A;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:516006.0002;GENEINFO=MT-ND6:4541;MC=SO:0001583|missense_variant;ORIGIN=17;RS=199476105 MT 15117 693828 T C . . ALLELEID=680718;CLNDISDB=MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380;CLNDN=Leigh_syndrome|Mitochondrial_disease;CLNHGVS=NC_012920.1:m.15117T>C;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MT-CYB:4519;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1603225092